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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]
ASIP (Agouti Signaling Protein) is a Protein Coding gene. Diseases associated with ASIP include Skin/Hair/Eye Pigmentation, Variation In, 9 and Skin Carcinoma. Among its related pathways are Adipogenesis and Insulin-mediated glucose transport. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and type 4 melanocortin receptor binding. An important paralog of this gene is AGRP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | TAS | 7757071 |
GO:0005184 | neuropeptide hormone activity | IBA | 21873635 |
GO:0031779 | melanocortin receptor binding | IBA | 21873635 |
GO:0031781 | type 3 melanocortin receptor binding | IEA | -- |
GO:0031782 | type 4 melanocortin receptor binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | TAS,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Aldosterone synthesis and secretion |
.41
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2 | Adipogenesis | ||
3 | Insulin-mediated glucose transport |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cyclic amp | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASIP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASIP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASIP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Asip 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ASIP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASIP 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | asip 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs36093428 | Benign: not provided | 34,269,032(+) |
C/A NM_001672.2(ASIP):c.264C>A (p.Pro88=) |
SYNONYMOUS | |
rs6058017 | Association: Skin/hair/eye pigmentation, variation in, 9 | 34,269,192(+) |
A/G NM_001672.2(ASIP):c.*25A>G |
THREE_PRIME_UTR | |
rs1129414 | - |
p.Gln61Pro |
|||
rs2296151 | - |
p.Val13Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1059756 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
skin/hair/eye pigmentation, variation in, 9 |
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skin carcinoma |
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albinism, oculocutaneous, type iv |
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albinism, oculocutaneous, type ii |
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albinism, oculocutaneous, type iii |
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