PACS1
entrez
55690
canonical
uniprot
Q6VY07
canonical
ensembl
ENSG00000175115
resolver
ensp
ENSP00000316454
resolver
genesymbol
PACS1
resolver
genesymbol_syn
KIAA1175
resolver
hgnc
HGNC:30032
resolver
uniprot
Q6PJY6
resolver
uniprot
Q6PKB6
resolver
uniprot
Q7Z590
resolver
uniprot
Q7Z5W4
resolver
uniprot
Q8N8K6
resolver
uniprot
Q96MW0
resolver
uniprot
Q9NW92
resolver
uniprot
Q9ULP5
resolver
uniprot_entry
PACS1_HUMAN
resolver
uniprot_sec
Q6PJY6
resolver
uniprot_sec
Q6PKB6
resolver
uniprot_sec
Q7Z590
resolver
uniprot_sec
Q7Z5W4
resolver
uniprot_sec
Q8N8K6
resolver
uniprot_sec
Q96MW0
resolver
uniprot_sec
Q9NW92
resolver
uniprot_sec
Q9ULP5
resolver
amino_acid_sequence
MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSSTSAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYATWEVDRSSSSCVPRLFSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIVLPASGLVETELQLTFSLQYPHFLKRDANKLQIMLQRRKRYKNRTILGYKTLAVGLINMAEVMQHPNEGALVLGLHSNVKDVSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQDLFYEDEDLRKVKKTRRKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIREVEEDLDELYDSLEMYNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNSKGSLGKDTTSPMELAALEKIKSTWIKNQDDSLTETDTLEITDQDMFGDASTSLVVPEKVKTPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSERTNSSDSERSPDLGHSTQIPRKVVYDQLNQILVSDAALPENVILVNTTDWQGQYVAELLQDQRKPVVCTCSTVEVQAVLSALLTRIQRYCNCNSSMPRPVKVAAVGGQSYLSSILRFFVKSLANKTSDWLGYMRFLIIPLGSHPVAKYLGSVDSKYSSSFLDSGWRDLFSRSEPPVSEQLDVAGRVMQYVNGAATTHQLPVAEAMLTCRHKFPDEDSYQKFIPFIGVVKVGLVEDSPSTAGDGDDSPVVSLTVPSTSPPSSSGLSRDATATPPSSPSMSSALAIVGSPNSPYGDVIGLQVDYWLGHPGERRREGDKRDASSKNTLKSVFRSVQVSRLPHSGEAQLSGTMAMTVVTKEKNKKVPTIFLSKKPREKEVDSKSQVIEGISRLICSAKQQQTMLRVSIDGVEWSDIKFFQLAAQWPTHVKHFPVGLFSGSKAT
uniprot
proteins
disease_involvement
DISEASE: Schuurs-Hoeijmakers syndrome (SHMS) [MIM:615009]: An autosomal dominant intellectual developmental disorder characterized by intellectual disability in combination with distinct craniofacial features and genital abnormalities. {ECO:0000269|PubMed:23159249}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN. Required for normal ER Ca2+ handling in lymphocytes. Together with WDR37, it plays an essential role in lymphocyte development, quiescence and survival. Required for stabilizing peripheral lymphocyte populations (By similarity). {ECO:0000250|UniProtKB:Q8K212, ECO:0000269|PubMed:11331585, ECO:0000269|PubMed:15692563}.
uniprot
proteins
mass_dalton
104898
uniprot
proteins
protein_family
PACS family
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
10707087
uniprot
proteins
pubmed
11331585
uniprot
proteins
pubmed
12526811
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15692563
uniprot
proteins
pubmed
16308564
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17646382
uniprot
proteins
pubmed
17855360
uniprot
proteins
pubmed
18296443
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22740416
uniprot
proteins
pubmed
23159249
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
34642815
uniprot
proteins
sequence_length
963
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:O88588}. Note=Localizes in the perinuclear region, probably the TGN. {ECO:0000305|PubMed:11331585}.
uniprot
proteins