AP1B1
entrez
162
canonical
uniprot
Q10567
canonical
ensembl
ENSG00000100280
resolver
ensp
ENSP00000319361
resolver
ensp
ENSP00000350199
resolver
ensp
ENSP00000400065
resolver
ensp
ENSP00000522401
resolver
ensp
ENSP00000522407
resolver
genesymbol
AP1B1
resolver
genesymbol_syn
ADTB1
resolver
genesymbol_syn
BAM22
resolver
genesymbol_syn
CLAPB2
resolver
hgnc
HGNC:554
resolver
uniprot
C9JRD1
resolver
uniprot
F8WDL0
resolver
uniprot
P78436
resolver
uniprot
Q20WL3
resolver
uniprot
Q86X54
resolver
uniprot_entry
AP1B1_HUMAN
resolver
uniprot_sec
C9JRD1
resolver
uniprot_sec
F8WDL0
resolver
uniprot_sec
P78436
resolver
uniprot_sec
Q20WL3
resolver
uniprot_sec
Q86X54
resolver
amino_acid_sequence
MTDSKYFTTTKKGEIFELKAELNSDKKEKKKEAVKKVIASMTVGKDVSALFPDVVNCMQTDNLELKKLVYLYLMNYAKSQPDMAIMAVNTFVKDCEDPNPLIRALAVRTMGCIRVDKITEYLCEPLRKCLKDEDPYVRKTAAVCVAKLHDINAQLVEDQGFLDTLKDLISDSNPMVVANAVAALSEIAESHPSSNLLDLNPQSINKLLTALNECTEWGQIFILDCLANYMPKDDREAQSICERVTPRLSHANSAVVLSAVKVLMKFMEMLSKDLDYYGTLLKKLAPPLVTLLSAEPELQYVALRNINLIVQKRPEILKHEMKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKEYATEVDVDFVRKAVRAIGRCAIKVEQSAERCVSTLLDLIQTKVNYVVQEAIVVIKDIFRKYPNKYESVIATLCENLDSLDEPEARAAMIWIVGEYAERIDNADELLESFLEGFHDESTQVQLQLLTAIVKLFLKKPTETQELVQQVLSLATQDSDNPDLRDRGYIYWRLLSTDPVAAKEVVLAEKPLISEETDLIEPTLLDELICYIGTLASVYHKPPSAFVEGGRGVVHKSLPPRTASSESAESPETAPTGAPPGEQPDVIPAQGDLLGDLLNLDLGPPVSGPPLATSSVQMGAVDLLGGGLDSLMGDEPEGIGGTNFVAPPTAAVPANLGAPIGSGLSDLFDLTSGVGTLSGSYVAPKAVWLPAMKAKGLEISGTFTRQVGSISMDLQLTNKALQVMTDFAIQFNRNSFGLAPAAPLQVHAPLSPNQTVEISLPLSTVGSVMKMEPLNNLQVAVKNNIDVFYFSTLYPLHILFVEDGKMDRQMFLATWKDIPNENEAQFQIRDCPLNAEAASSKLQSSNIFTVAKRNVEGQDMLYQSLKLTNGIWVLAELRIQPGNPSCTDLELSLKCRAPEVSQHVYQAYETILKN
uniprot
proteins
disease_involvement
DISEASE: Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) [MIM:242150]: An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients. {ECO:0000269|PubMed:31630788, ECO:0000269|PubMed:31630791}. 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 (PubMed:31630791, PubMed:36261523). 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 (PubMed:36261523). {ECO:0000269|PubMed:31630791, ECO:0000269|PubMed:36261523}.
uniprot
proteins
mass_dalton
104607
uniprot
proteins
protein_family
Adaptor complexes large subunit family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31630788
uniprot
proteins
pubmed
31630791
uniprot
proteins
pubmed
36261523
uniprot
proteins
pubmed
7987321
uniprot
proteins
pubmed
8812422
uniprot
proteins
sequence_length
949
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
uniprot
proteins