ID CD041_DANRE Reviewed; 1132 AA. AC Q1RLX4; Q6DRL6; Q6PGX1; DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot. DT 16-MAY-2006, sequence version 1. DT 24-MAR-2009, entry version 21. DE RecName: Full=UPF0636 protein C4orf41 homolog; DE AltName: Full=Protein foie gras; GN Name=foigr; Synonyms=fgr; ORFNames=zgc:136723, zgc:63684; OS Danio rerio (Zebrafish) (Brachydanio rerio). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; OC Cyprinidae; Danio. OX NCBI_TaxID=7955; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Embryo; RX PubMed=15256591; DOI=10.1073/pnas.0403929101; RA Amsterdam A., Nissen R.M., Sun Z., Swindell E.C., Farrington S., RA Hopkins N.; RT "Identification of 315 genes essential for early zebrafish RT development."; RL Proc. Natl. Acad. Sci. U.S.A. 101:12792-12797(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). RC STRAIN=SJD; RG NIH - Zebrafish Gene Collection (ZGC) project; RL Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases. RN [3] RP DISRUPTION PHENOTYPE. RX PubMed=16000385; DOI=10.1242/dev.01918; RA Sadler K.C., Amsterdam A., Soroka C., Boyer J., Hopkins N.; RT "A genetic screen in zebrafish identifies the mutants vps18, nf2 and RT foie gras as models of liver disease."; RL Development 132:3561-3572(2005). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q1RLX4-1; Sequence=Displayed; CC Name=2; CC IsoId=Q1RLX4-2; Sequence=VSP_035103; CC Note=No experimental confirmation available; CC -!- DISRUPTION PHENOTYPE: Pronounced hepatomegaly accompanied by lipid CC accumulation in the liver. CC -!- SIMILARITY: Belongs to the UPF0636 family. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY648743; AAT68061.1; -; mRNA. DR EMBL; BC056800; AAH56800.1; -; mRNA. DR EMBL; BC115242; AAI15243.1; -; mRNA. DR IPI; IPI00481446; -. DR IPI; IPI00552000; -. DR RefSeq; NP_955920.2; -. DR UniGene; Dr.65392; -. DR Ensembl; ENSDARG00000004726; Danio rerio. DR GeneID; 323003; -. DR ZFIN; ZDB-GENE-030131-1723; foigr. DR HOGENOM; Q1RLX4; -. DR HOVERGEN; Q1RLX4; -. DR ArrayExpress; Q1RLX4; -. DR Bgee; Q1RLX4; -. DR GO; GO:0060041; P:retina development in camera-type eye; IMP:ZFIN. DR InterPro; IPR012880; DUF1683_C. DR Pfam; PF07919; DUF1683; 1. PE 2: Evidence at transcript level; KW Alternative splicing. FT CHAIN 1 1132 UPF0636 protein C4orf41 homolog. FT /FTId=PRO_0000348075. FT VAR_SEQ 339 938 Missing (in isoform 2). FT /FTId=VSP_035103. FT CONFLICT 5 5 R -> Q (in Ref. 1; AAT68061 and 2; FT AAH56800). FT CONFLICT 1118 1118 V -> I (in Ref. 2; AAH56800). SQ SEQUENCE 1132 AA; 128647 MW; EBA227724FE58452 CRC64; MSPARWDLPP ELCCRPMAFV ALTGLDVVYN AIHRAIWDAF CANRRADRVP ISFKVLPGDH EYPKCRTKRT SYEWYIPKGI LKTGWMNKHL NLVPALVVLF YELDWDDPQW KEKQSECATK VEIVRTSLQG RNTKVAVVLI QKKTPLPPGE DLVASERASA LCGACDLSGK SLFVLPHTDH LVGYIIRLEN AFYEHAQTYY YNEIRRVKSH KEFLNKTTHQ LLFVRHQFKM GFFSELKQDT QNALKYYRTA YSLVHELRAH ETNVLEIKTM AGFINYKICR LCFQHNTPLD AIAQFRKHID LCKKKIGSAE LAFEHTAWMS KQFQSFGDLF DEAIKLGLTA IQTQNPGFYY QQAAYYAQER KQQAGQLCSH EPGVGYPAPD PLETTSGALD FYGQRPWRQG HQSIDPPDSE KEKQGILALQ VKERDVLHSE LIIALLSNAV AQFKKYKCPR MKSHLMVQMG EEYYHAKDYT KALKLLDYVM CDYRTERWWS LLTSIVCTAL KCSYLMGQVK DYITYSMELV GRASILSEEQ KSRIEKNLIK VLMNEVPEPE PDCDPVSVKA AQSLWSDRVS LAGNNEFTID VQDYVPFVQC KAKFLSPSFH IDEPVQLHVY VRADCPHPVR FSKLCVSLSN QEYNQYCLLE DAYKGKDILE PSSQENMCLV PGKTRKYCFN FVAKTEDVGK KIEITSVGLM LGRETGRYVY LNWRGGWGDA ASSHESLQAS RSFKRRTRLP EQHVDWDAVS VQSSTMIISR VPKISVQLTH EPPALTNEMF CMTVTIKSEE DTVGKDIKLT AGLKPGQDAN LTQSTQITLN GSEVCDDSHP ALLPDIPLGD LQPGQKIVKP LYIRCVSTGS RIFLFHVAYS VSATVEGKDI TCKCHKDETV TVETVVPFEV AMKFVSSKFE HLERVYVDIP FLLMMDILSA SPWPIELVES EVQLASSMTA IDQPQSQVEG VTLQTSECAS ECFLLKCPPV QNGTSTVASG HYIISWKRKS TFTETSVVRT VITLPHVMVE NIPLYVHAEV PSFGRVRESL PVRYHLENRT GLVQDVEISV EPSDAFMFSG LKQVRMRILP GAEQEMLYNF YPLMAGYQVL PQLNINLLRF PNISSQLLRR FLPSRIFVKP QGRNGDASIE AA //