ASIP
entrez
434
canonical
uniprot
P42127
canonical
ensembl
ENSG00000101440
resolver
ensp
ENSP00000364092
resolver
ensp
ENSP00000454804
resolver
ensp
ENSP00000632518
resolver
ensp
ENSP00000632519
resolver
enst
ENST00000374954
resolver
enst
ENST00000568305
resolver
enst
ENST00000962459
resolver
enst
ENST00000962460
resolver
genesymbol
ASIP
resolver
genesymbol_syn
AGTI
resolver
genesymbol_syn
AGTIL
resolver
genesymbol_syn
ASP
resolver
hgnc
HGNC:745
resolver
uniprot
Q3SXL2
resolver
uniprot_entry
ASIP_HUMAN
resolver
uniprot_sec
Q3SXL2
resolver
amino_acid_sequence
MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSKQIGRKAAEKKRSSKKEASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFRSACSCRVLSLNC
uniprot
proteins
disease_involvement
DISEASE: Obesity and hypopigmentation (OBHP) [MIM:620195]: An autosomal dominant disorder characterized by early-onset obesity, overgrowth, hyperinsulinemia, and hypopigmentation of the skin. Some affected individuals experience hyperphagia and exhibit reduced energy expenditure. {ECO:0000269|PubMed:36536132}. Note=The gene represented in this entry is involved in disease pathogenesis. A tandem duplication on chromosome 20 encompassing the neighboring genes ASIP and ITCH creates an ITCH-ASIP transcript consisting of the first two non-coding ITCH exons fused to the ASIP coding exons. This results in ASIP ectopic overexpression controlled by the ubiquitously active ITCH promoter. Ectopically expressed ASIP may antagonize MC4R signaling in the hypothalamus and may affect processes related to eating behavior and energy expenditure. {ECO:0000269|PubMed:36536132}.
uniprot
proteins
function
FUNCTION: Signaling protein that functions as an antagonist of melanocyte-stimulating-hormone receptor MC1R, thereby playing a role in the regulation of melanogenesis (PubMed:36536132). Binding to MC1R prevents alpha-MSH-induced signaling and inhibits cAMP production, resulting in down-regulation of eumelanogenesis (brown/black pigment) and increased pheomelanin (yellow/red pigment) synthesis (By similarity). In higher primates, Agouti may affect the quality of hair pigmentation rather than the pattern of pigment deposition (PubMed:11833005). May also play a role in neuroendocrine aspects of melanocortin action. {ECO:0000250|UniProtKB:Q03288, ECO:0000269|PubMed:11833005, ECO:0000269|PubMed:36536132}.
uniprot
proteins
mass_dalton
14515
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11833005
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15701517
uniprot
proteins
pubmed
36536132
uniprot
proteins
pubmed
7757071
uniprot
proteins
pubmed
7937887
uniprot
proteins
sequence_length
132
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:36536132}.
uniprot
proteins