ID   TUB1_CAEEL     STANDARD;      PRT;   426 AA.
AC   Q09306; Q9UB22;
DT   01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT   02-AUG-2002, sequence version 3.
DT   18-APR-2006, entry version 35.
DE   Tubby protein homolog 1.
GN   Name=tub-1; ORFNames=F10B5.4;
OS   Caenorhabditis elegans.
OC   Eukaryota; Metazoa; Nematoda; Chromadorea; Rhabditida; Rhabditoidea;
OC   Rhabditidae; Peloderinae; Caenorhabditis.
OX   NCBI_TaxID=6239;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   STRAIN=Bristol N2;
RA   Nelson L., Basson M., Spoerke J., Liu L.X., Yan G., North M.A.,
RA   Johnson C.D.;
RT   "A tubby family member in Caenorhabditis elegans is required for
RT   normal sensory behavior.";
RL   Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Bristol N2;
RX   MEDLINE=99069613; PubMed=9851916; DOI=10.1126/science.282.5396.2012;
RG   The C. elegans sequencing consortium;
RT   "Genome sequence of the nematode C. elegans: a platform for
RT   investigating biology.";
RL   Science 282:2012-2018(1998).
RN   [3]
RP   SEQUENCE REVISION.
RG   WormBase consortium;
RL   Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: Required for normal sensory behavior.
CC   -!- INTERACTION:
CC       Q17491:B0393.2; NbExp=1; IntAct=EBI-319236, EBI-319244;
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; AF143297; AAD33902.1; -; mRNA.
DR   EMBL; Z48334; CAB61010.2; -; Genomic_DNA.
DR   UniGene; Cel.19577; -.
DR   HSSP; P50586; 1I7E.
DR   IntAct; Q09306; -.
DR   Ensembl; F10B5.4; Caenorhabditis elegans.
DR   WormBase; WBGene00006655; tub-1.
DR   WormPep; F10B5.4; CE29091.
DR   GO; GO:0005515; F:protein binding; IPI.
DR   GO; GO:0007399; P:nervous system development; NAS.
DR   InterPro; IPR000007; Tubby.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
KW   Complete proteome; Sensory transduction.
FT   CHAIN         1    426       Tubby protein homolog 1.
FT                                /FTId=PRO_0000186474.
SQ   SEQUENCE   426 AA;  48454 MW;  F907CA1191E011D3 CRC64;
     MTDTNSQWIE MNLQRQRKML EDKQKQKRHQ SAGSVRTTST AMSMNSMKDY PTFDNSLPFS
     ISDNSSVSVS MNTPLIPTQD PIAQPRMQSM PRQQPQQVQE SLISIGDYPD NDINAKLSKV
     NLTSCVVSDD EDEDKRSYAD SPWNTDVVAD RIPSEVLPDY NFIKNNLAKF VEDPAVEHCL
     YKCSITRQKS GVDKGMFPTY FLHLEEFDTD KRQKIFLLAA RKRKKSTTAN YLLSTDPTNL
     SREGEGYCAK VRSNALGTQF TVYDSGQNPK KTTNHAAIRQ ELAAVIYETN VLGFKGPRKM
     TIVMPGIEPP TENRPAVRCP VRPIQDKHTL LERYRLNDLD SLKILSNKSP QWNDETQSYV
     LNFHGRVTQA SVKNFQIIHQ SSPEYIVMQF GRISDDEFTM DFRYPLSAVQ AFGIAMTSFH
     GKLACE
//
ID   TUB_HUMAN      STANDARD;      PRT;   506 AA.
AC   P50607; O00293;
DT   01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-1996, sequence version 1.
DT   18-APR-2006, entry version 36.
DE   Tubby protein homolog.
GN   Name=TUB;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=96200779; PubMed=8612280; DOI=10.1016/S0092-8674(00)81104-6;
RA   Kleyn P.W., Fan W., Kovats S.G., Lee J.L., Pulido J.C., Wu Y.,
RA   Berkemeier L.R., Misumi D.J., Holmgren L., Charlat O., Woolf E.A.,
RA   Tayber O., Brody T., Shu P., Hawkins F., Kennedy B., Baldini L.,
RA   Ebeling C., Alperin G.D., Deeds J., Lakey N.D., Culpepper J., Chen H.,
RA   Gluecksmann-Kuis M.A., Carlson G.A., Duyk G.M., Moore K.J.;
RT   "Identification and characterization of the mouse obesity gene tubby:
RT   a member of a novel gene family.";
RL   Cell 85:281-290(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Brain;
RX   MEDLINE=97250501; PubMed=9096357; DOI=10.1073/pnas.94.7.3128;
RA   North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M.;
RT   "Molecular characterization of TUB, TULP1, and TULP2, members of the
RT   novel tubby gene family and their possible relation to ocular
RT   diseases.";
RL   Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997).
CC   -!- FUNCTION: Could be involved in the hypothalamic regulation of body
CC       weight.
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; U54644; AAB53494.1; -; mRNA.
DR   EMBL; U82467; AAB53699.1; -; mRNA.
DR   UniGene; Hs.568986; -.
DR   PDB; 1S31; X-ray; A=234-506.
DR   Ensembl; ENSG00000166402; Homo sapiens.
DR   HGNC; HGNC:12406; TUB.
DR   MIM; 601197; gene.
DR   GO; GO:0005737; C:cytoplasm; TAS.
DR   GO; GO:0005634; C:nucleus; TAS.
DR   InterPro; IPR000007; Tubby.
DR   InterPro; IPR005398; Tubby_N.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PRINTS; PR01574; TUBBYPROTEIN.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
KW   3D-structure; Obesity.
FT   CHAIN         1    506       Tubby protein homolog.
FT                                /FTId=PRO_0000186463.
FT   COMPBIAS    197    204       Asp/Glu-rich.
FT   COMPBIAS    206    210       Poly-Ser.
FT   CONFLICT      1     13       MTSKPHSDWIPYS -> MGARTPLPSFWVSFFAETGILFPG
FT                                GTPWPMGSQHSKQHRKPGPLKRGHRRDRRTTRRKYWKEGRE
FT                                IAR (in Ref. 2).
FT   STRAND      238    240
FT   STRAND      249    250
FT   HELIX       251    255
FT   TURN        256    256
FT   STRAND      257    258
FT   TURN        261    262
FT   STRAND      265    272
FT   TURN        274    275
FT   HELIX       276    278
FT   TURN        279    279
FT   STRAND      283    289
FT   TURN        291    292
FT   STRAND      293    293
FT   STRAND      295    303
FT   STRAND      305    306
FT   STRAND      308    309
FT   STRAND      311    316
FT   HELIX       318    322
FT   TURN        323    324
FT   STRAND      329    334
FT   TURN        336    337
FT   STRAND      338    348
FT   STRAND      350    350
FT   STRAND      352    353
FT   TURN        355    357
FT   STRAND      358    363
FT   STRAND      366    372
FT   STRAND      376    377
FT   TURN        379    380
FT   STRAND      385    390
FT   STRAND      392    392
FT   TURN        394    395
FT   STRAND      396    396
FT   STRAND      398    398
FT   STRAND      404    405
FT   HELIX       406    408
FT   STRAND      409    409
FT   HELIX       410    415
FT   TURN        416    417
FT   TURN        419    420
FT   STRAND      421    427
FT   STRAND      431    433
FT   TURN        434    437
FT   STRAND      438    441
FT   TURN        444    445
FT   STRAND      446    446
FT   STRAND      449    449
FT   STRAND      451    451
FT   TURN        452    453
FT   STRAND      455    459
FT   TURN        460    461
FT   TURN        463    464
FT   STRAND      465    465
FT   STRAND      467    474
FT   TURN        475    476
FT   STRAND      477    482
FT   TURN        484    485
FT   STRAND      487    487
FT   HELIX       488    500
FT   STRAND      502    503
SQ   SEQUENCE   506 AA;  55651 MW;  B2A7D230795346C3 CRC64;
     MTSKPHSDWI PYSVLDDEGR NLRQQKLDRQ RALLEQKQKK KRQEPLMVQA NADGRPRSRR
     ARQSEEQAPL VESYLSSSGS TSYQVQEADS LASVQLGATR PTAPASAKRT KAAATAGGQG
     GAARKEKKGK HKGTSGPAAL AEDKSEAQGP VQILTVGQSD HAQDAGETAA GGGERPSGQD
     LRATMQRKGI SSSMSFDEDE EDEEENSSSS SQLNSNTRPS SATSRKSVRE AASAPSPTAP
     EQPVDVEVQD LEEFALRPAP QGITIKCRIT RDKKGMDRGM YPTYFLHLDR EDGKKVFLLA
     GRKRKKSKTS NYLISVDPTD LSRGGDSYIG KLRSNLMGTK FTVYDNGVNP QKASSSTLES
     GTLRQELAAV CYETNVLGFK GPRKMSVIVP GMNMVHERVS IRPRNEHETL LARWQNKNTE
     SIIELQNKTP VWNDDTQSYV LNFHGRVTQA SVKNFQIIHG NDPDYIVMQF GRVAEDVFTM
     DYNYPLCALQ AFAIALSSFD SKLACE
//
ID   TUB_MOUSE      STANDARD;      PRT;   505 AA.
AC   P50586;
DT   01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-1996, sequence version 1.
DT   30-MAY-2006, entry version 48.
DE   Tubby protein.
GN   Name=Tub; Synonyms=Rd5;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi;
OC   Muroidea; Muridae; Murinae; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE.
RC   STRAIN=C57BL/6J;
RX   MEDLINE=96200779; PubMed=8612280; DOI=10.1016/S0092-8674(00)81104-6;
RA   Kleyn P.W., Fan W., Kovats S.G., Lee J.L., Pulido J.C., Wu Y.,
RA   Berkemeier L.R., Misumi D.J., Holmgren L., Charlat O., Woolf E.A.,
RA   Tayber O., Brody T., Shu P., Hawkins F., Kennedy B., Baldini L.,
RA   Ebeling C., Alperin G.D., Deeds J., Lakey N.D., Culpepper J., Chen H.,
RA   Gluecksmann-Kuis M.A., Carlson G.A., Duyk G.M., Moore K.J.;
RT   "Identification and characterization of the mouse obesity gene tubby:
RT   a member of a novel gene family.";
RL   Cell 85:281-290(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE.
RC   STRAIN=C57BL/6J, and CD-1; TISSUE=Brain, and Testis;
RX   MEDLINE=96195061; PubMed=8606774; DOI=10.1038/380534a0;
RA   Noben-Trauth K., Naggert J.K., North M.A., Nishina P.M.;
RT   "A candidate gene for the mouse mutation tubby.";
RL   Nature 380:534-538(1996).
RN   [3]
RP   NUCLEOTIDE SEQUENCE.
RA   Brueckmann T., Winterpacht A., Hankeln T., Schmidt E.R., Zabel B.U.;
RT   "Mouse chromosome 7 BAC clone 287P4, sequenced in DHGP-project:
RT   comparative sequencing of 1 Mb region in man (Chromosome 11p15) and
RT   mouse (Chromosome 7).";
RL   Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 241-505.
RX   MEDLINE=20059926; PubMed=10591637; DOI=10.1126/science.286.5447.2119;
RA   Boggon T.J., Shan W.S., Santagata S., Myers S.C., Shapiro L.;
RT   "Implication of tubby proteins as transcription factors by structure-
RT   based functional analysis.";
RL   Science 286:2119-2125(1999).
CC   -!- FUNCTION: Could be involved in the hypothalamic regulation of body
CC       weight.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=Long;
CC         IsoId=P50586-1; Sequence=Displayed;
CC       Name=Short;
CC         IsoId=P50586-2; Sequence=VSP_006675;
CC   -!- DISEASE: Defects in Tub are the cause of maturity-onset obesity,
CC       insulin resistance and sensory deficits.
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; U54643; AAB53495.1; -; mRNA.
DR   EMBL; U52433; AAC52510.1; -; mRNA.
DR   EMBL; U52824; AAC52512.1; ALT_INIT; mRNA.
DR   EMBL; AJ296303; CAC39309.1; -; Genomic_DNA.
DR   PIR; S68518; S68518.
DR   UniGene; Mm.241469; -.
DR   PDB; 1C8Z; X-ray; A=243-505.
DR   SMR; P50586; 233-504.
DR   Ensembl; ENSMUSG00000031028; Mus musculus.
DR   MGI; MGI:2651573; Tub.
DR   GO; GO:0005829; C:cytosol; IMP.
DR   GO; GO:0008020; F:G-protein coupled photoreceptor activity; IMP.
DR   GO; GO:0007602; P:phototransduction; IMP.
DR   GO; GO:0007605; P:sensory perception of sound; IMP.
DR   InterPro; IPR000007; Tubby.
DR   InterPro; IPR005398; Tubby_N.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PRINTS; PR01574; TUBBYPROTEIN.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
KW   3D-structure; Alternative splicing; Obesity.
FT   CHAIN         1    505       Tubby protein.
FT                                /FTId=PRO_0000186464.
FT   COMPBIAS    197    204       Asp/Glu-rich.
FT   COMPBIAS    206    210       Poly-Ser.
FT   VAR_SEQ     153    208       Missing (in isoform Short).
FT                                /FTId=VSP_006675.
FT   STRAND      249    249
FT   HELIX       250    255
FT   TURN        260    261
FT   STRAND      264    270
FT   STRAND      272    273
FT   STRAND      275    278
FT   STRAND      282    288
FT   TURN        290    291
FT   STRAND      292    292
FT   STRAND      294    315
FT   HELIX       317    320
FT   TURN        321    323
FT   STRAND      328    333
FT   TURN        335    336
FT   STRAND      337    343
FT   STRAND      345    347
FT   HELIX       349    351
FT   TURN        354    355
FT   HELIX       356    358
FT   STRAND      359    362
FT   STRAND      365    371
FT   STRAND      376    377
FT   STRAND      380    380
FT   STRAND      384    389
FT   STRAND      391    391
FT   TURN        393    394
FT   STRAND      395    395
FT   STRAND      397    397
FT   STRAND      403    404
FT   TURN        405    406
FT   STRAND      407    408
FT   HELIX       409    414
FT   TURN        415    416
FT   STRAND      419    426
FT   STRAND      430    432
FT   TURN        433    436
FT   STRAND      437    442
FT   TURN        443    444
FT   STRAND      445    448
FT   STRAND      450    450
FT   TURN        451    452
FT   STRAND      453    457
FT   TURN        459    460
FT   TURN        462    463
FT   STRAND      464    473
FT   TURN        474    475
FT   STRAND      476    481
FT   TURN        483    484
FT   HELIX       487    499
FT   STRAND      500    501
SQ   SEQUENCE   505 AA;  55362 MW;  32E160BBF5265211 CRC64;
     MTSKPHSDWI PYSVLDDEGS NLRQQKLDRQ RALLEQKQKK KRQEPLMVQA NADGRPRSRR
     ARQSEEQAPL VESYLSSSGS TSYQVQEADS IASVQLGATR PPAPASAKKS KGAAASGGQG
     GAPRKEKKGK HKGTSGPATL AEDKSEAQGP VQILTVGQSD HDKDAGETAA GGGAQPSGQD
     LRATMQRKGI SSSMSFDEDE DEDENSSSSS QLNSNTRPSS ATSRKSIREA ASAPSPAAPE
     PPVDIEVQDL EEFALRPAPQ GITIKCRITR DKKGMDRGMY PTYFLHLDRE DGKKVFLLAG
     RKRKKSKTSN YLISVDPTDL SRGGDSYIGK LRSNLMGTKF TVYDNGVNPQ KASSSTLESG
     TLRQELAAVC YETNVLGFKG PRKMSVIVPG MNMVHERVCI RPRNEHETLL ARWQNKNTES
     IIELQNKTPV WNDDTQSYVL NFHGRVTQAS VKNFQIIHGN DPDYIVMQFG RVAEDVFTMD
     YNYPLCALQA FAIALSSFDS KLACE
//
ID   TUB_RAT        STANDARD;      PRT;   505 AA.
AC   O88808; Q9Z1A2;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   18-APR-2006, entry version 29.
DE   Tubby protein homolog.
GN   Name=Tub;
OS   Rattus norvegicus (Rat).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi;
OC   Muroidea; Muridae; Murinae; Rattus.
OX   NCBI_TaxID=10116;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Brain;
RA   Miyakita A., Okuno S., Watanabe T.K., Oga K., Tsuji A., Hishigaki H.,
RA   Suto T., Nakagawa K., Nakahara Y., Higashi K.;
RT   "Molecular cloning of rat TUBBY gene.";
RL   Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 291-404.
RC   STRAIN=Wistar;
RA   Koritschoner N.P., Alvarez-Dolado M., Zenke M.;
RT   "Cloning and expression of the rat gene tubby.";
RL   Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: Could be involved in the hypothalamic regulation of body
CC       weight.
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; AB011544; BAA32734.1; -; mRNA.
DR   EMBL; U92546; AAD09251.1; -; mRNA.
DR   UniGene; Rn.30017; -.
DR   HSSP; P50586; 1C8Z.
DR   SMR; O88808; 233-504.
DR   RGD; 3918; Tub.
DR   InterPro; IPR000007; Tubby.
DR   InterPro; IPR005398; Tubby_N.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PRINTS; PR01574; TUBBYPROTEIN.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
KW   Obesity.
FT   CHAIN         1    505       Tubby protein homolog.
FT                                /FTId=PRO_0000186465.
FT   COMPBIAS    197    204       Asp/Glu-rich.
FT   COMPBIAS    206    210       Poly-Ser.
FT   CONFLICT    362    379       LRQELAAVCYETNVLGFK -> CARSWQPCAMRQMSRLQ
FT                                (in Ref. 2).
SQ   SEQUENCE   505 AA;  55318 MW;  8ECAAB751B06469F CRC64;
     MTSKPHSDWI PYSVLDDEGS NLRQQKLDRQ RALLEQKQKK KRQEPLMVQA NADGRPRSRR
     ARQSEEQAPL VESYLSSSGS TSYQVQEADS LASVQPGATR PPAPASAKKT KGAAASGGQG
     GAPRKEKKGK HKGTSGPATL AEDKSEAQGP VQILTVGQSD HAKDAGETAA GGGAQPSGQD
     LRATMQRKGI SSSMSFDEEE DEDENSSSSS QLNSNTRPSS ATSRKSTREA ASAPSPAAPE
     PPVDIEVQDL EEFALRPAPQ GITIKCRITR DKKGMDRGMY PTYFLHLDRE DGKKVFLLAG
     RKRKKSKTSN YLISVDPTDL SRGGDSYIGK LRSNLMGTKF TVYDNGVNPQ KASSSTLESG
     TLRQELAAVC YETNVLGFKG PRKMSVIVPG MNMVHERVCI RPRNEHETLL ARWQNKNTES
     IIELQNKTPV WNDDTQSYVL NFHGRVTQAS VKNFQIIHGN DPDYIVMQFG RVAEDVFTMD
     YNYPLCALQA FAIALSSFDS KLACE
//
ID   TULP1_HUMAN    STANDARD;      PRT;   542 AA.
AC   O00294; O43536;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   30-MAY-2000, sequence version 2.
DT   30-MAY-2006, entry version 44.
DE   Tubby-related protein 1 (Tubby-like protein 1).
GN   Name=TULP1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE.
RC   TISSUE=Retina;
RX   MEDLINE=97250501; PubMed=9096357; DOI=10.1073/pnas.94.7.3128;
RA   North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M.;
RT   "Molecular characterization of TUB, TULP1, and TULP2, members of the
RT   novel tubby gene family and their possible relation to ocular
RT   diseases.";
RL   Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE.
RX   MEDLINE=98122583; PubMed=9462751; DOI=10.1038/ng0298-177;
RA   Banerjee P., Kleyn P.W., Knowles J.A., Lewis C.A., Ross B.M.,
RA   Parano E., Kovats S.G., Lee J.J., Penchaszadeh G.K., Ott J.,
RA   Jacobson S.G., Gilliam T.C.;
RT   "TULP1 mutation in two extended Dominican kindreds with autosomal
RT   recessive retinitis pigmentosa.";
RL   Nat. Genet. 18:177-179(1998).
RN   [3]
RP   VARIANTS RP14 120-GLU--ASP-127 DEL; ARG-489 AND THR-496, AND VARIANT
RP   THR-67.
RX   MEDLINE=98322025; PubMed=9660588;
RA   Gu S., Lennon A., Li Y., Lorenz B., Fossarello M., North M., Gal A.,
RA   Wright A.;
RT   "Tubby-like protein-1 mutations in autosomal recessive retinitis
RT   pigmentosa.";
RL   Lancet 351:1103-1104(1998).
RN   [4]
RP   VARIANTS RP14 PRO-420; LYS-459 AND LEU-491.
RX   MEDLINE=98122582; PubMed=9462750; DOI=10.1038/ng0298-174;
RA   Hagstrom S.A., North M.A., Nishina P.M., Berson E.L., Dryja T.P.;
RT   "Recessive mutations in the gene encoding the tubby-like protein TULP1
RT   in patients with retinitis pigmentosa.";
RL   Nat. Genet. 18:174-176(1998).
CC   -!- FUNCTION: Not known; probably plays an essential role in the
CC       physiology of photoreceptors.
CC   -!- TISSUE SPECIFICITY: Retinal specific.
CC   -!- DISEASE: Defects in TULP1 are the cause of retinitis pigmentosa
CC       type 14 (RP14) [MIM:600132]; an autosomal recessive form of vision
CC       defect.
CC   -!- SIMILARITY: Belongs to the TUB family.
CC   -!- WEB RESOURCE: NAME=Mutations of the TULP1 gene;
CC       NOTE=Retina International's Scientific Newsletter;
CC       URL="http://www.retina-international.com/sci-news/tulpmut.htm".
CC   -!- WEB RESOURCE: NAME=GeneReviews;
CC       URL="http://www.genetests.org/query?gene=TULP1".
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DR   EMBL; U82468; AAB53700.1; -; mRNA.
DR   EMBL; AF034923; AAB97966.1; -; Genomic_DNA.
DR   EMBL; AF034919; AAB97966.1; JOINED; Genomic_DNA.
DR   EMBL; AF034920; AAB97966.1; JOINED; Genomic_DNA.
DR   EMBL; AF034921; AAB97966.1; JOINED; Genomic_DNA.
DR   EMBL; AF034922; AAB97966.1; JOINED; Genomic_DNA.
DR   UniGene; Hs.485208; -.
DR   PDB; 2FIM; X-ray; A/B=-.
DR   SMR; O00294; 276-541.
DR   Ensembl; ENSG00000112041; Homo sapiens.
DR   HGNC; HGNC:12423; TULP1.
DR   MIM; 600132; phenotype.
DR   MIM; 602280; gene.
DR   GO; GO:0007601; P:visual perception; TAS.
DR   InterPro; IPR000007; Tubby.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
KW   3D-structure; Disease mutation; Polymorphism; Retinitis pigmentosa;
KW   Sensory transduction; Vision.
FT   CHAIN         1    542       Tubby-related protein 1.
FT                                /FTId=PRO_0000186466.
FT   COMPBIAS    115    131       Poly-Glu.
FT   COMPBIAS    248    254       Poly-Glu.
FT   VARIANT      67     67       R -> T.
FT                                /FTId=VAR_008274.
FT   VARIANT     120    127       Missing (in RP14).
FT                                /FTId=VAR_013310.
FT   VARIANT     245    245       A -> V (in RP14).
FT                                /FTId=VAR_008275.
FT   VARIANT     259    259       I -> T (in RP14; dbSNP:2064317).
FT                                /FTId=VAR_008276.
FT   VARIANT     261    261       N -> T (in RP14).
FT                                /FTId=VAR_008277.
FT   VARIANT     378    378       R -> H (in RP14).
FT                                /FTId=VAR_008278.
FT   VARIANT     420    420       R -> P (in RP14).
FT                                /FTId=VAR_007941.
FT   VARIANT     454    454       T -> M (in RP14).
FT                                /FTId=VAR_008279.
FT   VARIANT     459    459       I -> K (in RP14).
FT                                /FTId=VAR_007942.
FT   VARIANT     489    489       K -> R (in RP14).
FT                                /FTId=VAR_008280.
FT   VARIANT     491    491       F -> L (in RP14).
FT                                /FTId=VAR_007943.
FT   VARIANT     496    496       A -> T (in RP14).
FT                                /FTId=VAR_008281.
SQ   SEQUENCE   542 AA;  60650 MW;  EC94308E0FF9B3E9 CRC64;
     MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE SPCPTGSKPR
     KPGAGRRGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR DPRETFLVAR APDAEDEEEE
     EEEDEEDEEE EAEEKKEKIL LPPKKPLREK SSADLKERRA KAQGPRGDLG SPDPPPKPLR
     VRNKEAPAGE GTKMRKTKKK GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG
     TPKGARKEEE EEEEAATVIK NSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP
     QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY LISIDPTNLS
     RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR QELAAVIYET NVLGFRGPRR
     MTVIIPGMSA ENERVPIRPR NASDGLLVRW QNKTLESLIE LHNKPPVWND DSGSYTLNFQ
     GRVTQASVKN FQIVHADDPD YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA
     CE
//
ID   TULP1_MOUSE    STANDARD;      PRT;   543 AA.
AC   Q9Z273;
DT   31-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-1999, sequence version 1.
DT   18-APR-2006, entry version 31.
DE   Tubby-related protein 1 (Tubby-like protein 1).
GN   Name=Tulp1;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi;
OC   Muroidea; Muridae; Murinae; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   STRAIN=BALB/c;
RA   Naggert J.K., Nishina P.M., Fitch D., McGinnis N., Basson M., Yan G.,
RA   Cardon L., Shiva N., Duyao M., Ikeda A., McGinnis A., North M.A.;
RT   "Molecular evolution of the tubby gene family.";
RL   Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   STRAIN=BALB/c;
RA   Ikeda S., Sorokina I., Naggert J.K., North M.A., Nishina P.M.;
RT   "Apoptotic photoreceptor cell death in tubby mice and the localization
RT   of tubby gene family members in the retina.";
RL   Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: Not known; probably plays an essential role in the
CC       physiology of photoreceptors.
CC   -!- TISSUE SPECIFICITY: Retinal specific.
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; AF085681; AAD13757.1; -; mRNA.
DR   EMBL; AF105711; AAD38451.1; -; mRNA.
DR   UniGene; Mm.42102; -.
DR   HSSP; P50586; 1I7E.
DR   SMR; Q9Z273; 287-542.
DR   Ensembl; ENSMUSG00000037446; Mus musculus.
DR   MGI; MGI:109571; Tulp1.
DR   GO; GO:0008020; F:G-protein coupled photoreceptor activity; IMP.
DR   GO; GO:0007602; P:phototransduction; IMP.
DR   InterPro; IPR000007; Tubby.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
KW   Sensory transduction; Vision.
FT   CHAIN         1    543       Tubby-related protein 1.
FT                                /FTId=PRO_0000186467.
FT   COMPBIAS    118    127       Poly-Asp.
FT   COMPBIAS    128    132       Poly-Glu.
FT   COMPBIAS    246    254       Poly-Glu.
SQ   SEQUENCE   543 AA;  60336 MW;  0F0D9E4D2A2731E7 CRC64;
     MPLQEETLRE VWASDSGHEE DCLSPEPPLR PKQRPAQGQK LRKKKPETPD SLESKPRKAG
     AGRRKHEEPP ADSAEPRAAQ TVYAKFLRDP EAKKRDPREN FLVARAPDLG GEENSEEDSD
     DDDNDDDEEE EEKKEGKKEK SSLPPKKAPK EREKKAKALG PRGDVGSPDA PRKPLRTKKK
     EVGEGTKLRK AKKKGPGETD KDPAGSPAAL RKEFPAAMFL VGEGGAAEKG VKKKGPPKGS
     EEEKKEEEEE VEEEVASAVM KNSNQKGRAK GKGKKKVKEE RASSPPVEVG EPREFVLQPA
     PQGRAVRCRL TRDKKGMDRG MYPSYFLHLD TEKKVFLLAG RKRKRSKTAN YLISSDPTNL
     SRGGENFIGK LRSNLLGNRF TVFDNGQNPQ RGGGGDVGSL RQELAAVVYE TNVLGFRGPR
     RMTVIIPGMN SDNERVPIRP RNASDGLLVR WQNKTLESLI ELHNKPPIWN EDSGSYTLNF
     QGRVTQASVK NFQIVHADDP DYIVLQFGRV AEDAFTLDYR YPLCALQAFA IALSSFDGKL
     ACE
//
ID   TULP2_MOUSE    STANDARD;      PRT;   564 AA.
AC   P46686; Q9R1I8;
DT   01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT   18-OCT-2001, sequence version 2.
DT   18-APR-2006, entry version 31.
DE   Tubby-related protein 2 (Tubby-like protein 2) (P4-6 protein)
DE   (Fragment).
GN   Name=Tulp2; Synonyms=Pdet;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi;
OC   Muroidea; Muridae; Murinae; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   STRAIN=BALB/c;
RA   Ikeda S., Sorokina I., Naggert J.K., North M.A., Nishina P.M.;
RT   "Apoptotic photoreceptor cell death in tubby mice and the localization
RT   of tubby gene family members in the retina.";
RL   Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 247-564.
RC   TISSUE=Testis;
RX   MEDLINE=94153998; PubMed=7509194; DOI=10.1016/0167-4781(94)90036-1;
RA   Vambutas V., Wolgemuth D.J.;
RT   "Identification and characterization of the developmentally regulated
RT   pattern of expression in the testis of a mouse gene exhibiting
RT   similarity to the family of phosphodiesterases.";
RL   Biochim. Biophys. Acta 1217:203-206(1994).
CC   -!- TISSUE SPECIFICITY: Expressed in retina and testis.
CC   -!- SIMILARITY: Belongs to the TUB family.
CC   -!- CAUTION: Was originally (Ref.2) thought to be a phosphodiesterase
CC       on the basis of spurious sequence similarities.
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DR   EMBL; AF105712; AAD38452.1; -; mRNA.
DR   EMBL; X69827; CAA49481.1; ALT_INIT; mRNA.
DR   UniGene; Mm.383209; -.
DR   HSSP; P50586; 1I7E.
DR   Ensembl; ENSMUSG00000023467; Mus musculus.
DR   MGI; MGI:1861600; Tulp2.
DR   InterPro; IPR000007; Tubby.
DR   InterPro; IPR005398; Tubby_N.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PRINTS; PR01574; TUBBYPROTEIN.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
FT   CHAIN        1    564       Tubby-related protein 2.
FT                                /FTId=PRO_0000186469.
FT   CONFLICT    316    316       L -> V (in Ref. 2).
FT   CONFLICT    506    506       T -> S (in Ref. 2).
FT   NON_TER       1      1
SQ   SEQUENCE   564 AA;  62914 MW;  F343F5507330E16C CRC64;
     GTRDREGPRG PRSGASQENE QWKKETLEDE FSGVRLQKLE QQRQLFEKKQ RRKRQEPLMV
     QANPDATLRH RRPRRGEERF QSDSSWGLGV GSPFLQENVP QAHLPSGAHS ALVTMSYVAD
     GSGERAPLLS PRGAVYTRGN GPAVRHHLCW LPDSSDSDVE EVTMEDIPVI SRPPQTNLAN
     LRRGWLASPG PGISQEEKEE EVGSTDARVE DKTPSPDPDP DPTVNSDGDH GDLAPCKVEE
     NTAQKNTETA SGIGDEDREK GEVTESTETN YAPVASKVLQ GDDGDASNHN AWNMTCPQPR
     IPGPRLGEDM EAYVLLPAPR DHMVQWRIVR NKHGMDKGMF PSYYLYLEGE DGVAHFLLAG
     RKRKRSKTSN YLISLDPKDM SRNGSNFVGK VRSNVLGTKF TIFDNGVNPE RSYWVPDSAR
     IREELGVVCY ETNVLGFRGP RKMTVILPGM DSRKQRMKVQ PQNDQDSILS RVQKGAGHGL
     LLLQNKAPSW SDESGAYVLN FHGRVTRASV KNFQIVHPDE PDHLVLQFGR VAPNIFTMDF
     RYPLCPLQAF AICLSSFDGK LACE
//
ID   TULP3_HUMAN    STANDARD;      PRT;   442 AA.
AC   O75386;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   30-MAY-2006, entry version 32.
DE   Tubby-related protein 3 (Tubby-like protein 3).
GN   Name=TULP3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=99047527; PubMed=9828123; DOI=10.1006/geno.1998.5567;
RA   Nishina P.M., North M.A., Ikeda A., Yan Y., Naggert J.K.;
RT   "Molecular characterization of a novel tubby gene family member,
RT   TULP3, in mouse and humans.";
RL   Genomics 54:215-220(1998).
CC   -!- TISSUE SPECIFICITY: Expressed at high levels in testis, ovaries,
CC       thyroid, and spinal chord.
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; AF045583; AAC95431.1; -; mRNA.
DR   UniGene; Hs.198853; -.
DR   HSSP; P50586; 1I7E.
DR   Ensembl; ENSG00000078246; Homo sapiens.
DR   H-InvDB; HIX0010336; -.
DR   HGNC; HGNC:12425; TULP3.
DR   MIM; 604730; gene.
DR   GO; GO:0005634; C:nucleus; NAS.
DR   GO; GO:0005886; C:plasma membrane; NAS.
DR   GO; GO:0005546; F:phosphatidylinositol-4,5-bisphosphate binding; NAS.
DR   GO; GO:0007186; P:G-protein coupled receptor protein signalin...; NAS.
DR   GO; GO:0006355; P:regulation of transcription, DNA-dependent; NAS.
DR   InterPro; IPR000007; Tubby.
DR   InterPro; IPR005398; Tubby_N.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PRINTS; PR01574; TUBBYPROTEIN.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
FT   CHAIN         1    442       Tubby-related protein 3.
FT                                /FTId=PRO_0000186470.
SQ   SEQUENCE   442 AA;  49745 MW;  1447469885680283 CRC64;
     MEASRCRLSP SGDSVFHEEM MKMRQAKLDY QRLLLEKRQR KKRLEPFMVQ PNPEARLRRA
     KPRASDEQTP LVNCHTPHSN VILHGIDGPA AVLKPDEVHA PSVSSSVVEE DAENTVDTAS
     KPGLQERLQK HDISESVNFD EETDGISQSA CLERPNSASS QNSTDTGIPV LLLPPNQLIT
     FLGDIDDLED FVLVPAPQGV TVRCRIIRDK RGMDRGLFSH LLYVLGKEEN QKIFLLAARK
     RKKSKTANYL ISIDPVDLSR EGESYVGKLR SNLMGTKFTV YDRGICPMKG RGLVGAAHTR
     QELAAISYET NVLGFKGPRK MSVIIPGMTL NHKQIPYQPQ NNHDSLLSRW QNRTMENLVE
     LHNKAPVWNS DTQSYVLNFR GRVTQASVKN FQLVHKNDPD YIVMQFGRVA DDVFTLDYNY
     PLCAVQAFAI SLSSFDSKLA CE
//
ID   TULP3_MOUSE    STANDARD;      PRT;   460 AA.
AC   O88413;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1998, sequence version 1.
DT   18-APR-2006, entry version 33.
DE   Tubby-related protein 3 (Tubby-like protein 3).
GN   Name=Tulp3;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi;
OC   Muroidea; Muridae; Murinae; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   STRAIN=BALB/c;
RX   MEDLINE=99047527; PubMed=9828123; DOI=10.1006/geno.1998.5567;
RA   Nishina P.M., North M.A., Ikeda A., Yan Y., Naggert J.K.;
RT   "Molecular characterization of a novel tubby gene family member,
RT   TULP3, in mouse and humans.";
RL   Genomics 54:215-220(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   STRAIN=ICR;
RA   Shirayoshi Y., Kawamura A., Nakatsuji N.;
RL   Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=C57BL/6; TISSUE=Brain;
RX   MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899;
RA   Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA   Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA   Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA   Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA   Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA   Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA   Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA   Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA   Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA   Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA   Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA   Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA   Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA   Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA   Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
RA   Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
RA   Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
RT   "Generation and initial analysis of more than 15,000 full-length human
RT   and mouse cDNA sequences.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; AF045582; AAC95430.1; -; mRNA.
DR   EMBL; AB016963; BAA74752.1; -; mRNA.
DR   EMBL; BC060068; AAH60068.1; -; mRNA.
DR   UniGene; Mm.291783; -.
DR   HSSP; P50586; 1I7E.
DR   SMR; O88413; 202-459.
DR   Ensembl; ENSMUSG00000001521; Mus musculus.
DR   MGI; MGI:1329045; Tulp3.
DR   InterPro; IPR000007; Tubby.
DR   InterPro; IPR005398; Tubby_N.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PRINTS; PR01574; TUBBYPROTEIN.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; 1.
FT   CHAIN         1    460       Tubby-related protein 3.
FT                                /FTId=PRO_0000186471.
SQ   SEQUENCE   460 AA;  51231 MW;  02EBC62899BB8B3B CRC64;
     MEAARCAPGP RGDSAFDDET LRLRQLKLDN QRALLEKKQR KKRLEPLMVQ PNPEARLRRL
     KPRGSEEHTP LVDPQMPRSD VILHGIDGPA AFLKPEAQDL ESKPQVLSVG SPAPEEGTEG
     SADGESPEET APKPDLQEIL QKHGILSSVN YDEEPDKEED EGGNLSSPSA RSEESAAASQ
     KAASETGASG VTAQQGDAQL GEVENLEDFA YSPAPRGVTV KCKVTRDKKG MDRGLFPTYY
     MHLEREENRK IFLLAGRKRK KSKTSNYLVS TDPTDLSREG ESYIGKLRSN LMGTKFTVYD
     HGVNPVKAQG LVEKAHTRQE LAAICYETNV LGFKGPRKMS VIIPGMNMNH ERIPFRPRNE
     HESLLSKWQN KSMENLIELH NKAPVWNDDT QSYVLNFHGR VTQASVKNFQ IVHGNDPDYI
     VMQFGRVADD VFTLDYNYPL CALQAFAIGL SSFDSKLACE
//
ID   TULP2_HUMAN    STANDARD;      PRT;   520 AA.
AC   O00295;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-JUL-1997, sequence version 1.
DT   18-APR-2006, entry version 32.
DE   Tubby-related protein 2 (Tubby-like protein 2).
GN   Name=TULP2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Brain;
RX   MEDLINE=97250501; PubMed=9096357; DOI=10.1073/pnas.94.7.3128;
RA   North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M.;
RT   "Molecular characterization of TUB, TULP1, and TULP2, members of the
RT   novel tubby gene family and their possible relation to ocular
RT   diseases.";
RL   Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997).
CC   -!- TISSUE SPECIFICITY: Expressed in retina and testis.
CC   -!- SIMILARITY: Belongs to the TUB family.
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DR   EMBL; U82469; AAB53701.1; -; mRNA.
DR   UniGene; Hs.104636; -.
DR   HSSP; P50586; 1I7E.
DR   Ensembl; ENSG00000104804; Homo sapiens.
DR   H-InvDB; HIX0015306; -.
DR   HGNC; HGNC:12424; TULP2.
DR   MIM; 602309; gene.
DR   GO; GO:0007601; P:visual perception; TAS.
DR   InterPro; IPR000007; Tubby.
DR   InterPro; IPR005398; Tubby_N.
DR   Pfam; PF01167; Tub; 1.
DR   PRINTS; PR01573; SUPERTUBBY.
DR   PRINTS; PR01574; TUBBYPROTEIN.
DR   PROSITE; PS01200; TUB_1; 1.
DR   PROSITE; PS01201; TUB_2; FALSE_NEG.
KW   Polymorphism.
FT   CHAIN         1    520       Tubby-related protein 2.
FT                                /FTId=PRO_0000186468.
FT   VARIANT     245    245       E -> K (in dbSNP:2270945).
FT                                /FTId=VAR_022136.
FT   VARIANT     251    251       D -> N (in dbSNP:8112811).
FT                                /FTId=VAR_024679.
SQ   SEQUENCE   520 AA;  58640 MW;  9C76363A537EB6EC CRC64;
     MSQDNDTLMR DILGHELAAM RLQKLEQQRR LFEKKQRQKR QELLMVQANP DASPWLWRSC
     LREERLLGDR GLGNPFLRKK VSEAHLPSGI HSALGTVSCG GDGRGERGLP TPRTEAVFRN
     LGLQSPFLSW LPDNSDAELE EVSVENGSVS PPPFKQSPRI RRKGWQAHQR PGTRAEGESD
     SQDMGDAHKS PNMGPNPGMD GDCVYENLAF QKEEDLEKKR EASESTGTNS SAAHNEELSK
     ALKGEGGTDS DHMRHEASLA IRSPCPGLEE DMEAYVLRPA LPGTMMQCYL TRDKHGVDKG
     LFPLYYLYLE TSDSLQRFLL AGRKRRRSKT SNYLISLDPT LLSRDGDNFV GKVRSNVFST
     KFTIFDNGVN PDREHLTRNT ARIRQELGAV CYEPNVLGYL GPRKMTVILP GTNSQNQRIN
     VQPLNEQESL LSRYQRGDKQ GLLLLHNKTP SWDKENGVYT LNFHGRVTRA SVKNFQIVDP
     KHQEHLVLQF GRVGPDTFTM DFCFPFSPLQ AFSICLSSFN
//