PERCC1
entrez
105371045
canonical
uniprot
A0A1W2PR82
canonical
ensembl
ENSG00000284395
resolver
ensp
ENSP00000492108
resolver
enst
ENST00000640283
resolver
genesymbol
PERCC1
resolver
hgnc
HGNC:52293
resolver
uniprot
Q96RY9
resolver
uniprot_entry
PERC1_HUMAN
resolver
uniprot_sec
Q96RY9
resolver
amino_acid_sequence
MAAGVIRPLCDFQLPLLRHHPFLPSDPEPPETSEEEEEEEEEEEEEEGEGEGLGGCGRILPSSGRAEATEEAAPEGPGSPETPLQLLRFSELISDDIRRYFGRKDKGQDPDACDVYADSRPPRSTARELYYADLVRLARGGSLEDEDTPEPRVPQGQVCRPGLSGDRAQPLGPLAELFDYGLQQYWGSRAAAGWSLTLERKYGHITPMAQRKLPPSFWKEPTPSPLGLLHPGTPDFSDLLASWSTEACPELPGRGTPALEGARPAEA
uniprot
proteins
disease_involvement
DISEASE: Diarrhea 11, malabsorptive, congenital (DIAR11) [MIM:618662]: A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. DIAR11 is characterized by onset of intractable diarrhea within the first few weeks of life. {ECO:0000269|PubMed:31217582}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a critical role in intestinal function (PubMed:31217582). Acts by promoting the development of enteroendocrine cells (EECs) of the gastrointestinal tract and pancreas (By similarity). It is thereby required for normal enteroendocrine peptide hormone secretion (By similarity). {ECO:0000250|UniProtKB:A0A286YDK6, ECO:0000269|PubMed:31217582}.
uniprot
proteins
mass_dalton
29212
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
31217582
uniprot
proteins
sequence_length
267
uniprot
proteins