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Gene Model: Asip

NomenclatureGenomic Location
SymbolAsipChromosome1
NameAgouti Signaling ProteinLinkage map20 cM
SpeciesDracomimus familiarisGenome Coordinates1: 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

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.

Predicted Transcript
       ....................................................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