Human Gene ASIP (ENST00000374954.4_3) from GENCODE V47lift37
  Description: agouti signaling protein, transcript variant 1 (from RefSeq NM_001672.3)
Gencode Transcript: ENST00000374954.4_3
Gencode Gene: ENSG00000101440.10_6
Transcript (Including UTRs)
   Position: hg19 chr20:32,829,229-32,857,150 Size: 27,922 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr20:32,848,181-32,856,973 Size: 8,793 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:32,829,229-32,857,150)mRNA (may differ from genome)Protein (132 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ASIP_HUMAN
DESCRIPTION: RecName: Full=Agouti-signaling protein; Short=ASP; AltName: Full=Agouti switch protein; Flags: Precursor;
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). 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.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed in adipose tissue, testis, ovary and heart and at lower levels in liver, kidney and foreskin.
DOMAIN: The presence of a 'disulfide through disulfide knot' structurally defines this protein as a knottin.
POLYMORPHISM: Genetic variants in ASIP define the skin/hair/eye pigmentation variation locus 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.
SIMILARITY: Contains 1 agouti domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ASIP
Diseases sorted by gene-association score: obesity (3), malignant melanoma, somatic (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • D000643 Ammonium Chloride

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.46 RPKM in Ovary
Total median expression: 45.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.6077-0.203 Picture PostScript Text
3' UTR -69.50177-0.393 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007733 - Agouti

Pfam Domains:
PF05039 - Agouti protein

SCOP Domains:
57055 - Agouti-related protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Y7J - NMR 1Y7K - NMR 2IQW - Model 2KZA - NMR 2L1J - NMR


ModBase Predicted Comparative 3D Structure on P42127
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0031779 melanocortin receptor binding
GO:0031781 type 3 melanocortin receptor binding
GO:0031782 type 4 melanocortin receptor binding

Biological Process:
GO:0006091 generation of precursor metabolites and energy
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0008343 adult feeding behavior
GO:0009755 hormone-mediated signaling pathway
GO:0032402 melanosome transport
GO:0032438 melanosome organization
GO:0040030 regulation of molecular function, epigenetic
GO:0042438 melanin biosynthetic process
GO:0043473 pigmentation
GO:0048023 positive regulation of melanin biosynthetic process
GO:0071514 genetic imprinting

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  AY805393 - Homo sapiens agouti signaling protein (ASIP) mRNA, 5' UTR; alternatively spliced.
BC104238 - Homo sapiens agouti signaling protein, nonagouti homolog (mouse), mRNA (cDNA clone MGC:126092 IMAGE:40033052), complete cds.
BC104239 - Homo sapiens agouti signaling protein, nonagouti homolog (mouse), mRNA (cDNA clone MGC:126093 IMAGE:40033056), complete cds.
KJ890717 - Synthetic construct Homo sapiens clone ccsbBroadEn_00111 ASIP gene, encodes complete protein.
JD410465 - Sequence 391489 from Patent EP1572962.
JD252566 - Sequence 233590 from Patent EP1572962.
JD108820 - Sequence 89844 from Patent EP1572962.
JD076917 - Sequence 57941 from Patent EP1572962.
JD200019 - Sequence 181043 from Patent EP1572962.
JD156364 - Sequence 137388 from Patent EP1572962.
JD372957 - Sequence 353981 from Patent EP1572962.
JD174960 - Sequence 155984 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AGTI, AGTIL, ASIP_HUMAN, ASP, ENST00000374954.1, ENST00000374954.2, ENST00000374954.3, NM_001672, P42127, Q3SXL2, uc318lyk.1, uc318lyk.2
UCSC ID: ENST00000374954.4_3
RefSeq Accession: NM_001672.3
Protein: P42127 (aka ASIP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.