Nomenclature | Genomic Location |
Symbol | Asip | Chromosome | 1 |
Name | Agouti Signaling Protein | Linkage map | 20 cM |
Species | Dracomimus familiaris | Genome Coordinates | 1: 20 Mbp |
Molecular 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).
Causes hair follicle melanocytes to synthesize phaeomelanin instead of black or brown pigment eumelanin and produces hairs
with a subapical yellow band on an otherwise black or brown background when expressed during the mid-portion of hair growth.
Molecular Function Terms:
binding
protein binding
receptor binding
G-protein-coupled receptor binding
neuropeptide receptor binding
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Human Disease Association |
No disease association.
Polymorphism: Genetic variations in ASIP are associated with variation in skin/hair/eye pigmentation type 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.
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....................................................ATGACAGT
9 GGGATTTTTTCTCCCAACAATGAAAAGGAAGAACCTTTTCCTAAGCCTATTGCTCTGCTA
69 CAGTTTGCTCAGAGCTGCCAGTTCTCACCTCATAATCGAGGAGAAGACAGAATGCAACCT
129 TTCAAAGAGCAACAAAATGAACCTCCCAGATCTCCCACCCATCTCCATTGTAGATTTAAC
189 TAAAAGATCCCAGAAAGTCAGCAGAAAAGAGGCAGAGAATAAGAAATCTTCCAAGAAAAA
249 TGCTGAACTGAAGGCACCTCCAAAACCAAGGCCCACACCTGCTGCTGACTGCGTGCCAAA
309 CTTCAAAACCTGCAAACCACACTTGAATCCATGTTGTAACTACTGTGCGTTGTGCAAATG
369 CCGAATTTTTCAGACTATCTGCCAATGTCTACTGTTAAACCCAAAGTGTTAA........
Predicted Protein Product |
MTVGFFLPTMKRKNLFLSLLLCYSLLRAASSHLIIEEKTECNLSKSNKMNLPDLPPISIV
DLTKRSQKVSRKEAENKKSSKKNAELKAPPKPRPTPAADCVPNFKTCKPHLNPCCNYCAL
CKCRIFQTICQCLLLNPKC-
Protein Alignment to Mouse |
sp|Q03288|ASIP_MOUSE Agouti-signaling protein OS=Mus musculus GN=Asip PE=2
SV=2
MGI:87853 a nonagouti (Chr 2)
Length = 131
Score = 159 (61.0 bits), Expect = 2.1e-12, P = 2.1e-12
Identities = 36/110 (32%), Positives = 50/110 (45%)
Query: 32 HLIIEEKT--ECNLSKSNKMNLPDLPPISIVDLTKRSQKVSRXXXXXXXXXXXXXXXXXX 89
HL +EE + +L ++ MN D +SIV L K+S+K+SR
Sbjct: 23 HLALEETLGDDRSLRSNSSMNSLDFSSVSIVALNKKSKKISRKEAEKRKRSSKKKASMKK 82
Query: 90 XXXXXXXXXDCVPNFKTCKPHLNPCCNYCALCKCRIFQTICQCLLLNPKC 139
CV +CKP CC+ CA C+CR F + C C +LNP C
Sbjct: 83 VARPPPPS-PCVATRDSCKPPAPACCDPCASCQCRFFGSACTCRVLNPNC 131
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