PERC1_HUMAN
ID PERC1_HUMAN Reviewed; 267 AA.
AC A0A1W2PR82; Q96RY9;
DT 18-SEP-2019, integrated into UniProtKB/Swiss-Prot.
DT 07-JUN-2017, sequence version 1.
DT 03-AUG-2022, entry version 24.
DE RecName: Full=Protein PERCC1 {ECO:0000305};
DE AltName: Full=Proline and glutamage-rich protein with a coiled coil domain {ECO:0000303|PubMed:31217582};
GN Name=PERCC1 {ECO:0000303|PubMed:31217582, ECO:0000312|HGNC:HGNC:52293};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [3]
RP FUNCTION, AND INVOLVEMENT IN DIAR11.
RX PubMed=31217582; DOI=10.1038/s41586-019-1312-2;
RA Oz-Levi D., Olender T., Bar-Joseph I., Zhu Y., Marek-Yagel D., Barozzi I.,
RA Osterwalder M., Alkelai A., Ruzzo E.K., Han Y., Vos E.S.M., Reznik-Wolf H.,
RA Hartman C., Shamir R., Weiss B., Shapiro R., Pode-Shakked B., Tatarskyy P.,
RA Milgrom R., Schvimer M., Barshack I., Imai D.M., Coleman-Derr D.,
RA Dickel D.E., Nord A.S., Afzal V., van Bueren K.L., Barnes R.M., Black B.L.,
RA Mayhew C.N., Kuhar M.F., Pitstick A., Tekman M., Stanescu H.C., Wells J.M.,
RA Kleta R., de Laat W., Goldstein D.B., Pras E., Visel A., Lancet D.,
RA Anikster Y., Pennacchio L.A.;
RT "Noncoding deletions reveal a gene that is critical for intestinal
RT function.";
RL Nature 571:107-111(2019).
CC -!- FUNCTION: Plays a critical role in intestinal function
CC (PubMed:31217582). Acts by promoting the development of enteroendocrine
CC cells (EECs) of the gastrointestinal tract and pancreas (By
CC similarity). It is thereby required for normal enteroendocrine peptide
CC hormone secretion (By similarity). {ECO:0000250|UniProtKB:A0A286YDK6,
CC ECO:0000269|PubMed:31217582}.
CC -!- DISEASE: Diarrhea 11, malabsorptive, congenital (DIAR11) [MIM:618662]:
CC A disease characterized by severe, life-threatening watery diarrhea
CC associated with generalized malabsorption and a paucity of
CC enteroendocrine cells. DIAR11 is characterized by onset of intractable
CC diarrhea within the first few weeks of life.
CC {ECO:0000269|PubMed:31217582}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK61281.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AL032819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AE006467; AAK61281.1; ALT_SEQ; Genomic_DNA.
DR RefSeq; XP_011521082.1; XM_011522780.2.
DR AlphaFoldDB; A0A1W2PR82; -.
DR BioMuta; ENSG00000284395; -.
DR PeptideAtlas; A0A1W2PR82; -.
DR Ensembl; ENST00000640283.2; ENSP00000492108.2; ENSG00000284395.2.
DR MANE-Select; ENST00000640283.2; ENSP00000492108.2; NM_001365310.2; NP_001352239.1.
DR GeneCards; PERCC1; -.
DR HGNC; HGNC:52293; PERCC1.
DR HPA; ENSG00000284395; Tissue enhanced (prostate, stomach).
DR MalaCards; PERCC1; -.
DR MIM; 618656; gene.
DR MIM; 618662; phenotype.
DR neXtProt; NX_A0A1W2PR82; -.
DR VEuPathDB; HostDB:ENSG00000284395; -.
DR GeneTree; ENSGT00390000002827; -.
DR OMA; YEDDRMS; -.
DR OrthoDB; 1457597at2759; -.
DR PRO; PR:A0A1W2PR82; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; A0A1W2PR82; protein.
DR Bgee; ENSG00000284395; Expressed in duodenum and 27 other tissues.
DR GO; GO:0048546; P:digestive tract morphogenesis; ISS:UniProtKB.
DR GO; GO:0035883; P:enteroendocrine cell differentiation; ISS:UniProtKB.
PE 3: Inferred from homology;
KW Developmental protein; Reference proteome.
FT CHAIN 1..267
FT /note="Protein PERCC1"
FT /id="PRO_0000447991"
FT REGION 19..88
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 142..163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 247..267
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..50
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 267 AA; 29212 MW; A7DD33F118372509 CRC64;
MAAGVIRPLC DFQLPLLRHH PFLPSDPEPP ETSEEEEEEE EEEEEEEGEG EGLGGCGRIL
PSSGRAEATE EAAPEGPGSP ETPLQLLRFS ELISDDIRRY FGRKDKGQDP DACDVYADSR
PPRSTARELY YADLVRLARG GSLEDEDTPE PRVPQGQVCR PGLSGDRAQP LGPLAELFDY
GLQQYWGSRA AAGWSLTLER KYGHITPMAQ RKLPPSFWKE PTPSPLGLLH PGTPDFSDLL
ASWSTEACPE LPGRGTPALE GARPAEA
