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ASIP agouti signaling protein [ Homo sapiens (human) ]

Gene ID: 434, updated on 19-Jul-2014
Official Symbol
ASIPprovided by HGNC
Official Full Name
agouti signaling proteinprovided by HGNC
Primary source
HGNC:745
See related
Ensembl:ENSG00000101440; HPRD:02562; MIM:600201; Vega:OTTHUMG00000032289
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASP; AGSW; AGTI; AGTIL; SHEP9
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 mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
See ASIP in Epigenomics, MapViewer
Location:
20q11.2-q12
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (34241382..34269344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32829188..32857150)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 1 Neighboring gene exportin, tRNA pseudogene 1 Neighboring gene uncharacterized LOC101926916 Neighboring gene density-regulated protein pseudogene Neighboring gene adenosylhomocysteinase Neighboring gene itchy E3 ubiquitin protein ligase Neighboring gene cell division cycle 42 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Skin/hair/eye pigmentation, variation in, 9
MedGen: C2673200 OMIM: 611742 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
NHGRI GWA Catalog
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
NHGRI GWA Catalog
Genome-wide association study identifies three new melanoma susceptibility loci.
NHGRI GWA Catalog
Web-based, participant-driven studies yield novel genetic associations for common traits.
NHGRI GWA Catalog
  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
    Insulin-mediated glucose transport, organism-specific biosystem
    Insulin-mediated glucose transport
  • Melanogenesis, organism-specific biosystem (from KEGG)
    Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Melanogenesis, conserved biosystem (from KEGG)
    Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126092, MGC126093

Gene Ontology Provided by GOA

Function Evidence Code Pubs
receptor binding TAS
Traceable Author Statement
more info
PubMed 
type 3 melanocortin receptor binding IEA
Inferred from Electronic Annotation
more info
 
type 4 melanocortin receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adult feeding behavior IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
generation of precursor metabolites and energy IEA
Inferred from Electronic Annotation
more info
 
genetic imprinting IEA
Inferred from Electronic Annotation
more info
 
hormone-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
melanosome organization IEA
Inferred from Electronic Annotation
more info
 
melanosome transport IEA
Inferred from Electronic Annotation
more info
 
regulation of molecular function, epigenetic IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular space TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
agouti-signaling protein
Names
agouti-signaling protein
nonagouti homolog
agouti switch protein
agouti signaling protein, nonagouti homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011439.1 

    Range
    5001..13978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001672.2NP_001663.2  agouti-signaling protein precursor

    See proteins identical to NP_001663.2

    Status: REVIEWED

    Source sequence(s)
    L37019
    Consensus CDS
    CCDS13232.1
    UniProtKB/Swiss-Prot
    P42127
    Related
    ENSP00000364092, OTTHUMP00000030681, ENST00000374954, OTTHUMT00000078767
    Conserved Domains (1) summary
    smart00792
    Location:16128
    Blast Score: 339
    Agouti; Agouti protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    34241382..34269344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260412.1XP_005260469.1  

    Conserved Domains (1) summary
    smart00792
    Location:20132
    Blast Score: 341
    Agouti; Agouti protein

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    29629973..29638950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    32749256..32758241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)