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FLASH GENE
Symbol ASIP contributors: mct - updated : 03-02-2016
HGNC name agouti signaling protein, nonagouti homolog (mouse)
HGNC id 745
Location 20q11.21      Physical location : 32.848.170 - 32.857.148
Synonym symbol(s) AGT1, AH, ASP, MCIR, AGTIL, ASP, MGC126092, MGC126093, SHEP9
DNA
TYPE functioning gene
STRUCTURE 8.00 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - HCK - AH - RPN2 - ADA ADA - qter
Authors Kwon (94)
Physical map
C20orf70 20q11.21 chromosome 20 open reading frame 70 SOCS2P1 20 suppressor of cytokine signaling 2 pseudogene 1 BASE 20q11.21 suppressor of cytokine signaling 2 pseudogene 1 C20orf71 20q11.22 chromosome 20 open reading frame 71 PLUNC 20p11.1-q12 palate, lung and nasal epithelium carcinoma associated RPL12P3 20q11.21 ribosomal protein L12 pseudogene 3 C20orf114 20q11.23 chromosome 20 open reading frame 114 CDK5RAP1 20pter-q11.23 CDK5 regulatory subunit associated protein 1 SNTA1 20q11.2 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) CBFA2T2 20q11.21-q11.23 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 APBA2BP 20q11.21 amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein C20orf144 20q11.21 chromosome 20 open reading frame 144 E2F1 20q11 E2F transcription factor 1 PXMP4 20q11.21 peroxisomal membrane protein 4, 24kDa ZNF341 20q11.21 zinc finger protein 341 RPL31P2 20q11.2 ribosomal protein L31 pseudogene 2 C20orf178 20q11.22 chromosome 20 open reading frame 178 TPM5P 20q11.2 tropomyosin 5, pseudogene RALY 20q11.21-q11.23 RNA binding protein (autoantigenic, hnRNP-associated with lethal yellow) EIF2S2 20pter-q12 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa LOC391244 20 similar to ribosomal protein S2; 40S ribosomal protein S2 XPOTP1 20q11.21 exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1 ASIP 20q11.21 agouti signaling protein, nonagouti homolog (mouse) AHCY 20cen-q13.1 S-adenosylhomocysteine hydrolase ITCH 20q11.22-23 itchy homolog E3 ubiquitin protein ligase (mouse) CDC42P1 20q11.22 cell division cycle 42 pseudogene 1 FDXP1 20cen-q13.1 ferredoxin pseudogene 1 FLJ38773 20q11.22 hypothetical protein FLJ38773 DNCL2A 20q12-q13.1 dynein, cytoplasmic, light polypeptide 2A MAP1LC3A 20cen-q13 microtubule-associated protein 1 light chain 3 alpha CDC91L1 20q11.21 CDC91 cell division cycle 91-like 1 (S. cerevisiae) NCOA6 20q11 nuclear receptor coactivator 6 HMG4L 20q11.21 high-mobility group (nonhistone chromosomal) protein 4-like GGTL3 20pter-p13 gamma-glutamyltransferase-like 3 ACAS2 20q11.2-q12 acetyl-Coenzyme A synthetase 2 (ADP forming) GSS 20q11.21 glutathione synthetase MYH7B 20q11.21 myosin, heavy polypeptide 7B, cardiac muscle, beta TRPC4AP 20q11.23 transient receptor potential cation channel, subfamily C, member 4 associated protein C20orf31 20q11.23 chromosome 20 open reading frame 31 PROCR 20q11.21 protein C receptor, endothelial (EPCR) MMP24 20q11.2 matrix metalloproteinase 24 (membrane-inserted)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 584 - 132 - Sulem (2008)
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Reproductivemale systemprostate   
Urinarykidney   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
five disulfide bonds
HOMOLOGY
interspecies homolog to murine agouti (A) signaling protein
Homologene
FAMILY agouti family
CATEGORY signaling hormone
SUBCELLULAR LOCALIZATION extracellular
basic FUNCTION
  • melanocortin receptor (MC1R) antagonist
  • playing a role in hair or skin pigmentation and regulating the lipid metabolism within adipocytes
  • pharmacological antagonist of alpha-melanocyte-stimulating hormone
  • play a role in neuroendocrine aspects of melanocortin action
  • have a functional role in regulating lipid metabolism in adipocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS behavioral , homeostasis
    text
  • energy homeostasis
  • appetite
  • PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein antagonizing MC4R
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to skin sensitivity to sun
  • to cutaneous melanoma (CM)
  • to facial pigmented spots during aging
  • Variant & Polymorphism other
  • pol 8818A -> G associated with dark hair and brown eyes
  • haplotype increasing the risk of cutaneous melanoma (CM)
  • genetic variations in ASIP, contribute to the acquired amount of facial pigmented spots during aging, through pathways independent of the basal melanin production
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS