Free for academic non-profit institutions. Other users need a Commercial license

ASIP Gene(Protein Coding)

Agouti Signaling Protein

GCID:
GC20P034194
GIFtS:
57
Genes Participants
UDN Logo

Aliases for ASIP Gene

Aliases for ASIP Gene

  • Agouti Signaling Protein 2 3 5
  • Agouti Switch Protein 3 4
  • AGTIL 3 4
  • 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
  • SHEP9 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 Malignant Melanoma, Somatic and Obesity. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASIP Gene

Genomics for ASIP Gene

Products:

  1. Regulatory Element

Regulatory Elements for ASIP Gene

Enhancers for ASIP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G033731 1.5 FANTOM5 ENCODE 6.2 -453.2 -453239 4.0 HDGF HNRNPUL1 FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 CBFA2T2 ASIP ZNF341-AS1 ENSG00000229188 PIR41069
GH20G033441 1.2 ENCODE dbSUPER 6 -745.1 -745061 0.7 FOXA2 ARID4B ZNF48 ZNF2 ZNF263 YY2 MXD4 MIER2 MEF2D NFIL3 ASIP SNTA1 PIR51053
GH20G033837 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.7 -347.8 -347786 3.1 CTCF PKNOX1 ESRRA ZNF2 RAD21 TCF12 ZNF121 GATA3 PRDM10 TRIM24 CHMP4B ZNF341-AS1 ASIP TPM3P2
GH20G033421 1.8 VISTA Ensembl ENCODE dbSUPER 3.9 -762.9 -762895 3.6 HDAC1 TBL1XR1 ZNF121 CREM EGR2 ZBTB11 ZNF623 ZNF592 NR2F2 MEF2D CBFA2T2 ASIP PIR51053 CDK5RAP1
GH20G033672 1.3 ENCODE dbSUPER 4.7 -512.1 -512136 4.5 FOXA2 MLX AGO1 SIN3A ARID4B DMAP1 ZNF2 SP3 MXD4 REST CBFA2T2 PXMP4 ENSG00000229188 ZNF341 E2F1 ZNF341-AS1 ASIP NECAB3 ACTL10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASIP on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ASIP gene promoter:

Genomic Location for ASIP Gene

Chromosome:
20
Start:
34,186,493 bp from pter
End:
34,269,344 bp from pter
Size:
82,852 bases
Orientation:
Plus strand

Genomic View for ASIP Gene

Genes around ASIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASIP Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASIP Gene

Proteins for ASIP Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Post-translational modifications for ASIP Gene

  • Glycosylation at posLast=3939
  • 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 & Families 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 :
  • The presence of a disulfide through disulfide knot structurally defines this protein as a knottin.
Domain:
  • The presence of a disulfide through disulfide knot structurally defines this protein as a knottin.
genes like me logo Genes that share domains with ASIP: view

No data available for Gene Families for ASIP Gene

Function for ASIP Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0031779 melanocortin receptor binding IEA --
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

Animal Model Products

CRISPR Products

miRNA for ASIP Gene

miRTarBase miRNAs that target ASIP

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASIP Gene

Localization for ASIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASIP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 IEA --
GO:0005615 extracellular space TAS 7937887
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with ASIP: view

Pathways & Interactions 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

SIGNOR curated interactions for ASIP Gene

Activates:

Gene Ontology (GO) - Biological Process for ASIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS,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

Drugs & Compounds for ASIP Gene

Products:

  1. Drug

(3) Drugs for ASIP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0

(4) Additional Compounds for ASIP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ASIP: view

Transcripts for ASIP Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ASIP Gene

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

Unigene Clusters for ASIP Gene

Agouti signaling protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASIP Gene

mRNA expression in normal human tissues for ASIP Gene
mRNA expression by BioGPS for ASIP GenemRNA expression by GTEx 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 (x19.0) and Heart - Left Ventricle (x9.3).

NURSA nuclear receptor signaling pathways regulating expression of ASIP Gene:

ASIP

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.

Evidence on tissue expression from TISSUES for ASIP Gene

  • Skin(2.2)
genes like me logo Genes that share expression patterns with ASIP: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 98.99 (n)
dog
(Canis familiaris)
 Mammalia ASIP 34 35
  • 86.26 (n)
cow
(Bos Taurus)
 Mammalia ASIP 34 35
  • 85.61 (n)
mouse
(Mus musculus)
 Mammalia a 34 16 35
  • 84.62 (n)
rat
(Rattus norvegicus)
 Mammalia Asip 34
  • 83.85 (n)
oppossum
(Monodelphis domestica)
 Mammalia ASIP 35
  • 52 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ASIP 35
  • 40 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii asip 35
  • 33 (a)
 OneToOne
Species where no ortholog for ASIP was found in the sources mined by GeneCards:
  • 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

ASIP_HUMAN-P42127
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
rs6058017 other 34,269,192(+) CGAGC(A/G)GGCAG intron-variant, utr-variant-3-prime
rs1000030908 -- 34,199,384(+) TTTTA(C/T)AGATA intron-variant
rs1000123331 -- 34,269,080(+) CCGGC(A/G)CCCGC intron-variant, reference, synonymous-codon
rs1000165443 -- 34,188,351(+) TTTAA(G/T)TTAAA intron-variant
rs1000184697 -- 34,244,051(+) CAGAG(C/T)GAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASIP Gene

Variant ID Type Subtype PubMed ID
nsv1059756 CNV gain 25217958

Variation tolerance for ASIP Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASIP Gene

Human Gene Mutation Database (HGMD)
ASIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIP

Disorders for ASIP Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASIP Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
malignant melanoma, somatic
  • familial melanoma
obesity
  • obesity, association with
- elite association - COSMIC cancer census association via MalaCards
Search ASIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASIP

Genetic Association Database (GAD)
ASIP
Human Genome Epidemiology (HuGE) Navigator
ASIP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASIP
genes like me logo Genes that share disorders with ASIP: view

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

Publications for ASIP Gene

  1. 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 22 46 64
  2. 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 22 64
  3. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PMID: 19710684) Duffy D.L. … Montgomery G.W. (J. Invest. Dermatol. 2010) 3 22 46 64
  4. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. (PMID: 18637131) Brudnik U. … Kanas P. (Exp. Dermatol. 2009) 3 22 46 64
  5. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. (PMID: 19384953) Nan H. … Han J. (Int. J. Cancer 2009) 3 22 46 64

Products for ASIP Gene

Sources for ASIP Gene

Content
Loading form....