AP1G1
entrez
164
canonical
uniprot
O43747
canonical
ensembl
ENSG00000166747
resolver
ensp
ENSP00000299980
resolver
ensp
ENSP00000377148
resolver
genesymbol
AP1G1
resolver
genesymbol_syn
ADTG
resolver
genesymbol_syn
CLAPG1
resolver
hgnc
HGNC:555
resolver
uniprot
A0A140VJE7
resolver
uniprot
O75709
resolver
uniprot
O75842
resolver
uniprot
Q8IY97
resolver
uniprot
Q9UG09
resolver
uniprot
Q9Y3U4
resolver
uniprot_entry
A0A140VJE7_HUMAN
resolver
uniprot_entry
AP1G1_HUMAN
resolver
uniprot_entry
Q8IY97_HUMAN
resolver
uniprot_sec
O75709
resolver
uniprot_sec
O75842
resolver
uniprot_sec
Q9UG09
resolver
uniprot_sec
Q9Y3U4
resolver
amino_acid_sequence
MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKNLIMSGYSPEHDVSGISDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINILGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCIGEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQQRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPTEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFTFERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFPPQSWQ
uniprot
proteins
disease_involvement
DISEASE: Usmani-Riazuddin syndrome, autosomal dominant (USRISD) [MIM:619467]: A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Usmani-Riazuddin syndrome, autosomal recessive (USRISR) [MIM:619548]: A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025). {ECO:0000269|PubMed:15758025, ECO:0000269|PubMed:34102099}.
uniprot
proteins
mass_dalton
91351
uniprot
proteins
protein_family
Adaptor complexes large subunit family
uniprot
proteins
pubmed
12042876
uniprot
proteins
pubmed
12773381
uniprot
proteins
pubmed
14665628
uniprot
proteins
pubmed
15598649
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15758025
uniprot
proteins
pubmed
15775984
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27293189
uniprot
proteins
pubmed
34102099
uniprot
proteins
pubmed
9653655
uniprot
proteins
pubmed
9733768
uniprot
proteins
sequence_length
822
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:12773381}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000269|PubMed:12773381}; Peripheral membrane protein {ECO:0000269|PubMed:12773381}; Cytoplasmic side {ECO:0000269|PubMed:12773381}. Cytoplasm {ECO:0000269|PubMed:15758025}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15758025, ECO:0000269|PubMed:34102099}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:15758025}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:34102099}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (PubMed:12773381). Co-localizes with AFTPH/aftiphilin in the cytoplasm (PubMed:15758025). {ECO:0000269|PubMed:12773381, ECO:0000269|PubMed:15758025}.
uniprot
proteins