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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 Albinism, Oculocutaneous, Type Ii. Among its related pathways are Aldosterone synthesis and secretion and Adipogenesis. 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:0031779 | melanocortin receptor binding | IEA | -- |
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 | 7937887 |
GO:0005623 | cell | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Aldosterone synthesis and secretion |
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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 | 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 | -- |
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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ASIP 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | ASIP 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | a 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Asip 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | ASIP 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ASIP 33 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | asip 33 |
|
OneToOne |
SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs6058017 | association, Skin/hair/eye pigmentation, variation in, 9 | 34,269,192(+) | A/G | 3_prime_UTR_variant | |
rs1000030908 | -- | 34,199,384(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
rs1000123331 | -- | 34,269,080(+) | A/C/G | coding_sequence_variant, synonymous_variant | |
rs1000165443 | -- | 34,188,351(+) | G/T | genic_upstream_transcript_variant, intron_variant | |
rs1000184697 | -- | 34,244,051(+) | T/C | genic_upstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1059756 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
skin/hair/eye pigmentation, variation in, 9 |
|
|
albinism, oculocutaneous, type ii |
|
|
melanoma, cutaneous malignant 1 |
|
|
body mass index quantitative trait locus 11 |
|