ASIP agouti signaling protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASIPprovided by HGNC
Official Full Name: agouti signaling proteinprovided by HGNC
Primary source: HGNC:HGNC:745
See related: Ensembl:ENSG00000101440 MIM:600201; AllianceGenome:HGNC:745
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASP; AGSW; AGTI; AGTIL; SHEP9
Summary: In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (34186493..34269344)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (35912881..35992459)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (32782368..32857150)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Title: Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
ASIP expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
Polymorphisms of ASIP were found to be associated with skin, hair, and eye color in a phenotypically diverse Brazilian population. More research is needed to determine its usefulness in forensic science.
Title: SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes.
ASIP gene mutation is involved in the development of facial pigmented lesions.
Title: A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.
Data show that ASIP TG/TG diplotype, which is known to be associated with melanoma risk, was linked to a 5-fold increase in hazard of death from melanoma.
Title: Inherited variation at MC1R and ASIP and association with melanoma-specific survival.
An increased risk of melanoma (odds ratio [OR] 1.27, 95% confidence interval [95% CI] 1.03-1.57) in carriers of the rs4911414 variant, located 120 kb upstream of ASIP.
Title: Variants at chromosome 20 (ASIP locus) and melanoma risk.
By using a population-based material of high-risk melanoma cases, we demonstrate a significant effect of both MC1R red hair color (RHC) variants and an ASIP haplotype, but could not replicate an association with postulated risk SNPs of TYR and TYRP1.
Title: MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.
Findings suggest that ASIP locus is associated with a number of non-melanoma skin cancers.
Title: ASIP genetic variants and the number of non-melanoma skin cancers.
Further analysis of binding and functional data suggests that the ASIP C-terminal loop (a six-amino-acid segment closed by the final disulfide bond) is essential for high-affinity MC1R binding and inverse agonism.
Title: Loop-swapped chimeras of the agouti-related protein and the agouti signaling protein identify contacts required for melanocortin 1 receptor selectivity and antagonism.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR MedGen: C2673200 OMIM: 611742 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three new melanoma susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Two newly identified genetic determinants of pigmentation in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based, participant-driven studies yield novel genetic associations for common traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482397

Z94291 (e-PCR)
- UniSTS:72601

SHGC-36988 (e-PCR)
- UniSTS:54694

BCD1491 (e-PCR)
- UniSTS:43980

NoName (e-PCR)
- UniSTS:481245

NoName (e-PCR)
- UniSTS:489704

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables melanocortin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables neuropeptide hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed
enables type 3 melanocortin receptor binding	IEA Inferred from Electronic Annotation more info
enables type 4 melanocortin receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in adult feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in epigenetic programming in the zygotic pronuclei	IEA Inferred from Electronic Annotation more info
involved_in generation of precursor metabolites and energy	IEA Inferred from Electronic Annotation more info
involved_in hormone-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in melanin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: agouti-signaling protein

Names: agouti signaling protein, nonagouti homolog; agouti switch protein; nonagouti homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011439.2 RefSeqGene

Range

59932..87853

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001385218.1 → NP_001372147.1 agouti-signaling protein precursor

Status: REVIEWED

Source sequence(s)

AL035458

Consensus CDS

CCDS13232.1

UniProtKB/Swiss-Prot

P42127, Q3SXL2

Related

ENSP00000454804.1, ENST00000568305.5

Conserved Domains (1) summary

smart00792
Location:16 → 128

Agouti; Agouti protein
NM_001672.3 → NP_001663.2 agouti-signaling protein precursor

See identical proteins and their annotated locations for NP_001663.2

Status: REVIEWED

Source sequence(s)

AL035458

Consensus CDS

CCDS13232.1

UniProtKB/Swiss-Prot

P42127, Q3SXL2

Related

ENSP00000364092.3, ENST00000374954.4

Conserved Domains (1) summary

smart00792
Location:16 → 128

Agouti; Agouti protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

34186493..34269344

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528821.1 → XP_011527123.1 agouti-signaling protein isoform X1

See identical proteins and their annotated locations for XP_011527123.1

UniProtKB/Swiss-Prot

P42127, Q3SXL2

Conserved Domains (1) summary

smart00792
Location:16 → 128

Agouti; Agouti protein
XM_011528820.2 → XP_011527122.1 agouti-signaling protein isoform X1

See identical proteins and their annotated locations for XP_011527122.1

UniProtKB/Swiss-Prot

P42127, Q3SXL2

Conserved Domains (1) summary

smart00792
Location:16 → 128

Agouti; Agouti protein

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

35912881..35992459

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323451.1 → XP_054179426.1 agouti-signaling protein isoform X1

UniProtKB/Swiss-Prot

P42127, Q3SXL2
XM_054323450.1 → XP_054179425.1 agouti-signaling protein isoform X1

UniProtKB/Swiss-Prot

P42127, Q3SXL2