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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 Insulin-mediated glucose transport and Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. 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

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
GH20F033731 0.9 FANTOM5 ENCODE 6.2 -453.2 -453239 4.0 HDGF PKNOX1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 ZNF207 CBFA2T2 ASIP ZNF341-AS1 ENSG00000229188 PIR41069
GH20F033441 0.5 ENCODE 6 -745.1 -745061 0.7 ARID4B ZNF2 ZNF48 ZNF263 YY2 MXD4 MIER2 NFIL3 MEF2D MIER3 ASIP SNTA1 PIR51053
GH20F033672 1 ENCODE 4.7 -512.1 -512136 4.5 MLX ARID4B SIN3A DMAP1 ZNF2 SP3 MXD4 REST KAT8 SSRP1 CBFA2T2 PXMP4 ZNF341 ENSG00000229188 E2F1 ZNF341-AS1 ASIP NECAB3 ACTL10
GH20F033836 1.2 FANTOM5 Ensembl ENCODE 4.7 -345.9 -345881 8.0 PKNOX1 ZNF2 RAD21 RARA ZNF121 GATA2 CREM MIXL1 ZNF280D ZEB2 CHMP4B ZNF341-AS1 CBFA2T2 ASIP TPM3P2
GH20F033662 0.8 ENCODE 4.6 -522.8 -522770 2.2 HDGF ATF1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 ENSG00000272945 NECAB3 ASIP ACTL10 C20orf144
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ASIP on UCSC Golden Path with GeneCards custom track

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 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

Post-translational modifications for ASIP Gene

  • Glycosylation at Asn 39
  • Modification sites at PhosphoSitePlus

Other Protein References for ASIP Gene

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.
  • 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: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

miRNA for ASIP Gene

miRTarBase miRNAs that target ASIP

Inhibitory RNA 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
Jensen Localization Image for ASIP Gene COMPARTMENTS Subcellular localization image for ASIP gene
Compartment Confidence
extracellular 5
nucleus 1

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:0005623 cell 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 IEA,TAS --
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

(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

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:

Inhibitory RNA 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

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 (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.
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 and Protein tissue co-expression partners 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
rs10084495 -- 34,229,285(+) ctccc(A/G)gacgg intron-variant
rs10084496 -- 34,229,308(+) ggcgg(A/G)gggct intron-variant
rs10084537 -- 34,229,321(+) ccccc(A/C)cacct intron-variant
rs10084550 -- 34,229,573(+) agagg(C/T)gcccc 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
  • 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. 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
  5. 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

Products for ASIP Gene

Sources for ASIP Gene

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