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Aliases for ASIP Gene

Aliases for ASIP Gene

  • Agouti Signaling Protein 2 3
  • AGTIL 3 4 6
  • Agouti Switch Protein 3 4
  • SHEP9 3 6
  • AGTI 3 4
  • ASP 3 4
  • Agouti Signaling Protein, Nonagouti Homolog (Mouse) 2
  • Agouti Signaling Protein, Nonagouti Homolog 3
  • Agouti (Mouse)-Signaling Protein 2
  • Nonagouti Homolog (Mouse) 2
  • Agouti-Signaling Protein 3
  • Nonagouti Homolog 3
  • AGSW 3

External Ids for ASIP Gene

Previous HGNC Symbols for ASIP Gene

  • AGTIL

Previous GeneCards Identifiers for ASIP Gene

  • GC20P032606
  • GC20P033516
  • GC20P033563
  • GC20P032312
  • GC20P032848
  • GC20P029629
  • GC20P032783
  • GC20P032785
  • GC20P032790

Summaries for ASIP Gene

Entrez Gene Summary for ASIP Gene

  • 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]

GeneCards Summary for ASIP Gene

ASIP (Agouti Signaling Protein) is a Protein Coding gene. Diseases associated with ASIP include autoimmune hepatitis and obesity. Among its related pathways are Insulin-mediated glucose transport and Adipogenesis. GO annotations related to this gene include receptor binding and type 4 melanocortin receptor binding.

UniProtKB/Swiss-Prot for ASIP Gene

  • 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 synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIP Gene

Genomics for ASIP Gene

Regulatory Elements for ASIP Gene

Genomic Location for ASIP Gene

Start:
34,194,569 bp from pter
End:
34,269,344 bp from pter
Size:
74,776 bases
Orientation:
Plus strand

Genomic View for ASIP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASIP Gene

Proteins for ASIP Gene

  • Protein details for ASIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42127-ASIP_HUMAN
    Recommended name:
    Agouti-signaling protein
    Protein Accession:
    P42127
    Secondary Accessions:
    • Q3SXL2

    Protein attributes for ASIP Gene

    Size:
    132 amino acids
    Molecular mass:
    14515 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ASIP Gene

neXtProt entry for ASIP Gene

Proteomics data for ASIP Gene at MOPED

Post-translational modifications for ASIP Gene

  • Glycosylation at Asn39
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASIP Gene

Domains for ASIP Gene

Protein Domains for ASIP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42127

UniProtKB/Swiss-Prot:

ASIP_HUMAN :
  • P42127
Domain:
  • The presence of a disulfide through disulfide knot structurally defines this protein as a knottin
  • Contains 1 agouti domain.
genes like me logo Genes that share domains with ASIP: view

No data available for Gene Families for ASIP Gene

Function for ASIP Gene

Molecular function for ASIP Gene

GENATLAS Biochemistry: murine agouti (A) signaling protein,homolog,also antagonizing MC4R,predominantly expressed in skin,testis,ovary,heart,melanocortin receptor (MC1R) antagonist
UniProtKB/Swiss-Prot 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 synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes

Gene Ontology (GO) - Molecular Function for ASIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding TAS 7757071
GO:0005515 protein binding --
GO:0031779 melanocortin receptor binding --
GO:0031781 type 3 melanocortin receptor binding IEA --
GO:0031782 type 4 melanocortin receptor binding IEA --
genes like me logo Genes that share ontologies with ASIP: view
genes like me logo Genes that share phenotypes with ASIP: view

miRNA for ASIP Gene

miRTarBase miRNAs that target ASIP

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ASIP Gene

Localization for ASIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASIP Gene COMPARTMENTS Subcellular localization image for ASIP gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for ASIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space TAS 7937887
genes like me logo Genes that share ontologies with ASIP: view

Pathways for ASIP Gene

genes like me logo Genes that share pathways with ASIP: view

Pathways by source for ASIP Gene

2 BioSystems pathways for ASIP Gene
1 KEGG pathway for ASIP Gene

Gene Ontology (GO) - Biological Process for ASIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy IEA --
GO:0007165 signal transduction TAS 7757071
GO:0007267 cell-cell signaling TAS 7757071
GO:0008343 adult feeding behavior IEA --
GO:0009755 hormone-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with ASIP: view

Compounds for ASIP Gene

(1) HMDB Compounds for ASIP Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4

(6) Novoseek inferred chemical compound relationships for ASIP Gene

Compound -log(P) Hits PubMed IDs
eumelanin 89.2 4
alpha msh 79.1 3
phaeomelanin 76.7 1
acth 46.6 4
forskolin 11.6 1
genes like me logo Genes that share compounds with ASIP: view

Transcripts for ASIP Gene

mRNA/cDNA for ASIP Gene

(8) Selected AceView cDNA sequences:
(6) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASIP Gene

Agouti signaling protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASIP Gene

No ASD Table

Relevant External Links for ASIP Gene

GeneLoc Exon Structure for
ASIP
ECgene alternative splicing isoforms for
ASIP

Expression for ASIP Gene

mRNA expression in normal human tissues for ASIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASIP Gene

This gene is overexpressed in Ovary (19.0) and Heart - Left Ventricle (9.3).

SOURCE GeneReport for Unigene cluster for ASIP Gene Hs.659995

mRNA Expression by UniProt/SwissProt for ASIP Gene

P42127-ASIP_HUMAN
Tissue specificity: Expressed in adipose tissue, testis, ovary and heart and at lower levels in liver, kidney and foreskin
genes like me logo Genes that share expressions with ASIP: view

No data available for Protein expression for ASIP Gene

Orthologs for ASIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASIP 35
  • 98.99 (n)
  • 97.73 (a)
ASIP 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASIP 35
  • 85.61 (n)
  • 75.76 (a)
ASIP 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASIP 35
  • 86.26 (n)
  • 81.68 (a)
ASIP 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia a 35
  • 84.62 (n)
  • 80.77 (a)
a 16
a 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASIP 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asip 35
  • 83.85 (n)
  • 77.69 (a)
chicken
(Gallus gallus)
Aves ASIP 36
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii asip 36
  • 33 (a)
OneToOne
Species with no ortholog for ASIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASIP Gene

ENSEMBL:
Gene Tree for ASIP (if available)
TreeFam:
Gene Tree for ASIP (if available)

Paralogs for ASIP Gene

No data available for Paralogs for ASIP Gene

Variants for ASIP Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ASIP Gene

P42127-ASIP_HUMAN
Genetic variants in ASIP define the skin/hair/eye pigmentation variation locus 9 (SHEP9) [MIM:611742]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair

Sequence variations from dbSNP and Humsavar for ASIP Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs819160 -- 34,266,490(-) tcacc(A/G)tgttg intron-variant
rs819161 -- 34,266,344(-) gagac(C/G)gagtc intron-variant
rs819162 -- 34,264,476(-) actac(A/T)caagg intron-variant
rs819163 -- 34,254,551(-) TGCCA(A/C)ATGTC intron-variant
rs819164 -- 34,251,648(-) gaaca(C/T)agcaA intron-variant

Relevant External Links for ASIP Gene

HapMap Linkage Disequilibrium report
ASIP
Human Gene Mutation Database (HGMD)
ASIP

No data available for Structural Variations from Database of Genomic Variants (DGV) for ASIP Gene

Disorders for ASIP Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ASIP Gene including...

Search for ASIP Gene in MalaCards »

(1) OMIM Diseases for ASIP Gene (600201)

(5) Novoseek inferred disease relationships for ASIP Gene

Disease -log(P) Hits PubMed IDs
melanoma 53.2 14
skin cancer 45.6 1
obesity 26.1 5
niddm 0.93 1
necrosis 0 1

Relevant External Links for ASIP

Genetic Association Database (GAD)
ASIP
Human Genome Epidemiology (HuGE) Navigator
ASIP
genes like me logo Genes that share disorders with ASIP: view

No data available for UniProtKB/Swiss-Prot for ASIP Gene

Publications for ASIP Gene

  1. Structure and function of ASP, the human homolog of the mouse agouti gene. (PMID: 7757071) Wilson B.D. … Barsh G.S. (Hum. Mol. Genet. 1995) 2 3 4 23
  2. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. (PMID: 11833005) Kanetsky P.A. … Rebbeck T.R. (Am. J. Hum. Genet. 2002) 3 4 23 48
  3. Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphism. (PMID: 15016309) Zeigler-Johnson C. … Kanetsky P.A. (Pigment Cell Res. 2004) 3 23 48
  4. The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. (PMID: 15726415) Bonilla C. … Kittles R.A. (Hum. Genet. 2005) 3 23 48
  5. A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA. (PMID: 16704456) Voisey J. … van Daal A. (Pigment Cell Res. 2006) 3 23 48

Products for ASIP Gene

Sources for ASIP Gene

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