• Gene id: 434

Gene Summary

• Gene Symbol: ASIP   Gene   UCSC   Ensembl
• Aliases: AGSW, AGTI, AGTIL, ASP, SHEP9
• Gene name: agouti signaling protein
• Alternate names: agouti-signaling protein, agouti signaling protein, nonagouti homolog, agouti switch protein, nonagouti homolog,
• Gene location: 20q11.22 (84459279: 84423527)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 600201

Protein Summary

• Protein general information: P42127  
  • Name: Agouti signaling protein (ASP) (Agouti switch protein)
  • Length: 132  
  • Mass: 14515
  • Tissue specificity: Expressed in adipose tissue, testis, ovary and heart and at lower levels in liver, kidney and foreskin.
• Sequence:

  MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSKQIGRKAAEKKRSSKK
  EASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFRSACSCRVLSLNC

• Structural information:
  • Protein Domains: (93..13-)
    (/note="Agouti-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00494"-)
  • Interpro: IPR007733  IPR027300  IPR036836  
  • Prosite: PS60024 PS51150
  • PDB: 1Y7J 1Y7K 2IQW 2KZA 2L1J
  • PDBsum: 1Y7J 1Y7K 2IQW 2KZA 2L1J
  • STRING: ENSP00000454804
• Other Databases: GeneCards:  ASIP  Malacards:  ASIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048023	positive regulation of melanin biosynthetic process	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005184	neuropeptide hormone activity	IBA	molecular function
GO:0032438	melanosome organization	IBA	biological process
GO:0031779	melanocortin receptor binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0009755	hormone-mediated signaling pathway	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0005615	extracellular space	TAS	cellular component
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	IEA	biological process
GO:0008343	adult feeding behavior	IEA	biological process
GO:0031781	type 3 melanocortin receptor binding	IEA	molecular function
GO:0031782	type 4 melanocortin receptor binding	IEA	molecular function
GO:0032402	melanosome transport	IEA	biological process
GO:0040030	regulation of molecular function, epigenetic	IEA	biological process
GO:0048023	positive regulation of melanin biosynthetic process	IEA	biological process
GO:0071514	genetic imprinting	IEA	biological process
GO:0031779	melanocortin receptor binding	IEA	molecular function
GO:0032438	melanosome organization	IEA	biological process
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04916	Melanogenesis

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:14633851
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)