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    ASIP agouti signaling protein [ Homo sapiens (human) ]

    Gene ID: 434, updated on 13-Feb-2019

    Summary

    Official Symbol
    ASIPprovided by HGNC
    Official Full Name
    agouti signaling proteinprovided by HGNC
    Primary source
    HGNC:HGNC:745
    See related
    Ensembl:ENSG00000101440 MIM:600201
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See ASIP in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (34186493..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 eukaryotic translation initiation factor 2 subunit beta Neighboring gene ribosomal protein S2 pseudogene 1 Neighboring gene exportin for tRNA pseudogene 1 Neighboring gene density regulated re-initiation and release factor pseudogene Neighboring gene adenosylhomocysteinase Neighboring gene uncharacterized LOC107985381 Neighboring gene itchy E3 ubiquitin protein ligase Neighboring gene cell division cycle 42 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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
    Two newly identified genetic determinants of pigmentation in Europeans.
    NHGRI GWA Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126092, MGC126093

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    signaling 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
     
    positive regulation of melanin biosynthetic process 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
    cell IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    agouti-signaling protein
    Names
    agouti signaling protein, nonagouti homolog
    agouti switch protein
    nonagouti homolog

    NCBI Reference Sequences (RefSeq)

    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 RefSeqGene

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001663.2

      Status: REVIEWED

      Source sequence(s)
      L37019
      Consensus CDS
      CCDS13232.1
      UniProtKB/Swiss-Prot
      P42127
      Related
      ENSP00000364092.3, ENST00000374954.3
      Conserved Domains (1) summary
      smart00792
      Location:16128
      Agouti; Agouti protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      34186493..34269344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528821.1XP_011527123.1  agouti-signaling protein isoform X2

      See identical proteins and their annotated locations for XP_011527123.1

      UniProtKB/Swiss-Prot
      P42127
      Conserved Domains (1) summary
      smart00792
      Location:16128
      Agouti; Agouti protein
    2. XM_011528820.2XP_011527122.1  agouti-signaling protein isoform X2

      See identical proteins and their annotated locations for XP_011527122.1

      UniProtKB/Swiss-Prot
      P42127
      Conserved Domains (1) summary
      smart00792
      Location:16128
      Agouti; Agouti protein
    3. XM_005260412.3XP_005260469.1  agouti-signaling protein isoform X1

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