ASIP (agouti signaling protein)

Gene

• Entrez ID: 434
• Gene name: Agouti signaling protein
• Gene symbol: ASIP
• Synonyms (NCBI Gene): AGSW, AGTI, AGTIL, ASP, SHEP9
• Chromosome: 20
• Chromosome location: 20q11.22
• Summary: In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mous

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016804	hsa-miR-335-5p	Microarray	18185580
MIRT802999	hsa-miR-1258	CLIP-seq
MIRT803000	hsa-miR-146b-3p	CLIP-seq
MIRT803001	hsa-miR-3162-5p	CLIP-seq
MIRT803002	hsa-miR-4447	CLIP-seq
MIRT803003	hsa-miR-4472	CLIP-seq
MIRT803004	hsa-miR-4481	CLIP-seq
MIRT803005	hsa-miR-4488	CLIP-seq
MIRT803006	hsa-miR-4632	CLIP-seq
MIRT803007	hsa-miR-4697-5p	CLIP-seq
MIRT803008	hsa-miR-4745-5p	CLIP-seq
MIRT803009	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	TAS	7757071
GO:0005184	Function	Neuropeptide hormone activity	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	36536132
GO:0005615	Component	Extracellular space	TAS	7937887
GO:0006091	Process	Generation of precursor metabolites and energy	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	7937887
GO:0007165	Process	Signal transduction	TAS	7757071
GO:0007267	Process	Cell-cell signaling	TAS	7757071
GO:0008343	Process	Adult feeding behavior	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0031779	Function	Melanocortin receptor binding	IBA
GO:0031779	Function	Melanocortin receptor binding	IEA
GO:0031781	Function	Type 3 melanocortin receptor binding	IEA
GO:0031782	Function	Type 4 melanocortin receptor binding	IEA
GO:0032402	Process	Melanosome transport	IEA
GO:0032438	Process	Melanosome organization	IBA
GO:0032438	Process	Melanosome organization	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042438	Process	Melanin biosynthetic process	ISS
GO:0043473	Process	Pigmentation	IEA
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IEA
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IEA

Other IDs

• MIM: 600201
• HGNC: 745
• e!Ensembl: ENSG00000101440

Protein

• UniProt ID: P42127
• Protein name: Agouti-signaling protein (ASP) (Agouti switch protein)
• Protein function: Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthes
• PDB: 1Y7J, 1Y7K, 2KZA, 2L1J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05039	Agouti	42 → 128	Agouti protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed at low levels. Highly expressed in the skin. Expressed in adipose tissue. {ECO:0000269|PubMed:36536132, ECO:0000269|PubMed:7757071, ECO:0000269|PubMed:7937887}.
• Sequence:

  MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSK
  QIGRKAAEKKRSSKKEASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFR
  SACSCRVLSLNC

• Sequence length: 132

Pathways

KEGG:

Melanogenesis

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ASIP-related condition	Uncertain significance; Benign	rs963476143, rs36093428	RCV004758952 RCV004758767
SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR	association	rs6058017	RCV000009892

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Basal Cell	Associate	33248005
Carcinoma Squamous Cell	Associate	27424798
Carpal Tunnel Syndrome	Associate	37878141
Cystic Fibrosis	Inhibit	36313742
Diabetes Mellitus Type 2	Associate	37878141
Hereditary leiomyomatosis and renal cell cancer	Associate	24890271
Melanoma	Associate	21983785, 33248005
Melanosis	Associate	29190509
Metrorrhagia	Associate	25705849
Obesity	Associate	12055320
Pigmentation Disorders	Associate	11833005
Skin Neoplasms	Associate	21221757, 25705849