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P42127

- ASIP_HUMAN

UniProt

P42127 - ASIP_HUMAN

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Protein

Agouti-signaling protein

Gene

ASIP

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00510000048661.
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

        10         20         30         40         50
MDVTRLLLAT LLVFLCFFTA NSHLPPEEKL RDDRSLRSNS SVNLLDVPSV
60 70 80 90 100
SIVALNKKSK QIGRKAAEKK RSSKKEASMK KVVRPRTPLS APCVATRNSC
110 120 130
KPPAPACCDP CASCQCRFFR SACSCRVLSL NC
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 GC20P032790.
HGNCi HGNC:745. ASIP.
HPAi HPA048636.
MIMi 600201. gene.
611742. phenotype.
neXtProti NX_P42127.
PharmGKBi PA25045.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309706.
GeneTreei ENSGT00510000048661.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 129 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