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P42127

- ASIP_HUMAN

UniProt

P42127 - ASIP_HUMAN

Protein

Agouti-signaling protein

Gene

ASIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    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). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes.

    GO - Molecular functioni

    1. receptor binding Source: ProtInc

    GO - Biological processi

    1. adult feeding behavior Source: Ensembl
    2. cell-cell signaling Source: ProtInc
    3. generation of precursor metabolites and energy Source: ProtInc
    4. genetic imprinting Source: Ensembl
    5. hormone-mediated signaling pathway Source: InterPro
    6. melanin biosynthetic process Source: Ensembl
    7. melanosome organization Source: Ensembl
    8. melanosome transport Source: Ensembl
    9. regulation of molecular function, epigenetic Source: Ensembl
    10. signal transduction Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Agouti-signaling protein
    Short name:
    ASP
    Alternative name(s):
    Agouti switch protein
    Gene namesi
    Name:ASIP
    Synonyms:AGTI, AGTIL, ASP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:745. ASIP.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: ProtInc

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    MIMi611742. phenotype.
    PharmGKBiPA25045.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 132110Agouti-signaling proteinPRO_0000001028Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi39 – 391N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi93 ↔ 1081 PublicationPROSITE-ProRule annotation
    Disulfide bondi100 ↔ 1141 PublicationPROSITE-ProRule annotation
    Disulfide bondi107 ↔ 1251 PublicationPROSITE-ProRule annotation
    Disulfide bondi111 ↔ 1321 PublicationPROSITE-ProRule annotation
    Disulfide bondi116 ↔ 1231 PublicationPROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PRIDEiP42127.

    PTM databases

    PhosphoSiteiP42127.

    Expressioni

    Tissue specificityi

    Expressed in adipose tissue, testis, ovary and heart and at lower levels in liver, kidney and foreskin.

    Gene expression databases

    BgeeiP42127.
    CleanExiHS_ASIP.
    GenevestigatoriP42127.

    Organism-specific databases

    HPAiHPA048636.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000364092.

    Structurei

    Secondary structure

    1
    132
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi96 – 983
    Beta strandi102 – 1054
    Beta strandi113 – 1164
    Beta strandi123 – 1264

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1Y7JNMR-A80-132[»]
    1Y7KNMR-A80-132[»]
    2IQWmodel-B93-132[»]
    2KZANMR-A80-132[»]
    2L1JNMR-A93-126[»]
    ProteinModelPortaliP42127.
    SMRiP42127. Positions 93-126.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP42127.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini93 – 13240AgoutiPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi57 – 8630Arg/Lys-rich (basic)Add
    BLAST

    Domaini

    The presence of a 'disulfide through disulfide knot' structurally defines this protein as a knottin.

    Sequence similaritiesi

    Contains 1 agouti domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Knottin, Signal

    Phylogenomic databases

    eggNOGiNOG309706.
    HOGENOMiHOG000111779.
    HOVERGENiHBG050593.
    InParanoidiP42127.
    KOiK08725.
    OMAiCSCRVLN.
    OrthoDBiEOG79PJRV.
    PhylomeDBiP42127.
    TreeFamiTF330729.

    Family and domain databases

    Gene3Di4.10.760.10. 1 hit.
    InterProiIPR007733. Agouti.
    IPR027300. Agouti_dom.
    [Graphical view]
    PANTHERiPTHR16551. PTHR16551. 1 hit.
    PfamiPF05039. Agouti. 1 hit.
    [Graphical view]
    SMARTiSM00792. Agouti. 1 hit.
    [Graphical view]
    SUPFAMiSSF57055. SSF57055. 1 hit.
    PROSITEiPS60024. AGOUTI_1. 1 hit.
    PS51150. AGOUTI_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P42127-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDVTRLLLAT LLVFLCFFTA NSHLPPEEKL RDDRSLRSNS SVNLLDVPSV    50
    SIVALNKKSK QIGRKAAEKK RSSKKEASMK KVVRPRTPLS APCVATRNSC 100
    KPPAPACCDP CASCQCRFFR SACSCRVLSL NC 132
    Length:132
    Mass (Da):14,515
    Last modified:November 1, 1995 - v1
    Checksum:iAF82CC3C747F2BE6
    GO

    Polymorphismi

    Genetic variants in ASIP define the skin/hair/eye pigmentation variation locus 9 (SHEP9) [MIMi: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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131V → A.
    Corresponds to variant rs2296151 [ dbSNP | Ensembl ].
    VAR_022125
    Natural varianti61 – 611Q → P.
    Corresponds to variant rs1129414 [ dbSNP | Ensembl ].
    VAR_005003

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U12775, U12770, U12774 Genomic DNA. Translation: AAB61247.1.
    L37019 Genomic DNA. Translation: AAA89208.1.
    AL035458 Genomic DNA. Translation: CAB96679.1.
    BC104238 mRNA. Translation: AAI04239.1.
    BC104239 mRNA. Translation: AAI04240.1.
    CCDSiCCDS13232.1.
    PIRiI37143.
    RefSeqiNP_001663.2. NM_001672.2.
    UniGeneiHs.659995.

    Genome annotation databases

    EnsembliENST00000374954; ENSP00000364092; ENSG00000101440.
    ENST00000568305; ENSP00000454804; ENSG00000101440.
    GeneIDi434.
    KEGGihsa:434.
    UCSCiuc002xah.1. human.

    Polymorphism databases

    DMDMi1168389.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U12775 , U12770 , U12774 Genomic DNA. Translation: AAB61247.1 .
    L37019 Genomic DNA. Translation: AAA89208.1 .
    AL035458 Genomic DNA. Translation: CAB96679.1 .
    BC104238 mRNA. Translation: AAI04239.1 .
    BC104239 mRNA. Translation: AAI04240.1 .
    CCDSi CCDS13232.1.
    PIRi I37143.
    RefSeqi NP_001663.2. NM_001672.2.
    UniGenei Hs.659995.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1Y7J NMR - A 80-132 [» ]
    1Y7K NMR - A 80-132 [» ]
    2IQW model - B 93-132 [» ]
    2KZA NMR - A 80-132 [» ]
    2L1J NMR - A 93-126 [» ]
    ProteinModelPortali P42127.
    SMRi P42127. Positions 93-126.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000364092.

    PTM databases

    PhosphoSitei P42127.

    Polymorphism databases

    DMDMi 1168389.

    Proteomic databases

    PRIDEi P42127.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374954 ; ENSP00000364092 ; ENSG00000101440 .
    ENST00000568305 ; ENSP00000454804 ; ENSG00000101440 .
    GeneIDi 434.
    KEGGi hsa:434.
    UCSCi uc002xah.1. human.

    Organism-specific databases

    CTDi 434.
    GeneCardsi GC20P032785.
    HGNCi HGNC:745. ASIP.
    HPAi HPA048636.
    MIMi 600201. gene.
    611742. phenotype.
    neXtProti NX_P42127.
    PharmGKBi PA25045.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309706.
    HOGENOMi HOG000111779.
    HOVERGENi HBG050593.
    InParanoidi P42127.
    KOi K08725.
    OMAi CSCRVLN.
    OrthoDBi EOG79PJRV.
    PhylomeDBi P42127.
    TreeFami TF330729.

    Miscellaneous databases

    EvolutionaryTracei P42127.
    GenomeRNAii 434.
    NextBioi 1817.
    PROi P42127.
    SOURCEi Search...

    Gene expression databases

    Bgeei P42127.
    CleanExi HS_ASIP.
    Genevestigatori P42127.

    Family and domain databases

    Gene3Di 4.10.760.10. 1 hit.
    InterProi IPR007733. Agouti.
    IPR027300. Agouti_dom.
    [Graphical view ]
    PANTHERi PTHR16551. PTHR16551. 1 hit.
    Pfami PF05039. Agouti. 1 hit.
    [Graphical view ]
    SMARTi SM00792. Agouti. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57055. SSF57055. 1 hit.
    PROSITEi PS60024. AGOUTI_1. 1 hit.
    PS51150. AGOUTI_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Structure and function of ASP, the human homolog of the mouse agouti gene."
      Wilson B.D., Ollmann M.M., Kang L., Stoffel M., Bell G.I., Barsh G.S.
      Hum. Mol. Genet. 4:223-230(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. Cited for: STRUCTURE BY NMR OF 80-132, DISULFIDE BONDS.
    6. "A polymorphism in the agouti signaling protein gene is associated with human pigmentation."
      Kanetsky P.A., Swoyer J., Panossian S., Holmes R., Guerry D., Rebbeck T.R.
      Am. J. Hum. Genet. 70:770-775(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SHEP9.

    Entry informationi

    Entry nameiASIP_HUMAN
    AccessioniPrimary (citable) accession number: P42127
    Secondary accession number(s): Q3SXL2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: November 1, 1995
    Last modified: October 1, 2014
    This is version 128 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3