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ASB3 ankyrin repeat and SOCS box containing 3 [ Homo sapiens (human) ]

Gene ID: 51130, updated on 17-Jun-2024

Summary

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Official Symbol
ASB3provided by HGNC
Official Full Name
ankyrin repeat and SOCS box containing 3provided by HGNC
Primary source
HGNC:HGNC:16013
See related
Ensembl:ENSG00000115239 MIM:605760; AllianceGenome:HGNC:16013
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
ASB-3
Summary
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in brain (RPKM 8.4), testis (RPKM 6.9) and 25 other tissues See more
Orthologs
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Genomic context

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See ASB3 in Genome Data Viewer
Location:
2p16.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (53669980..53786953, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (53666238..53783156, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (53897117..54014090, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374600 Neighboring gene RNA, U6 small nuclear 997, pseudogene Neighboring gene GPR75-ASB3 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15754 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:54013580-54014238 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:54019308-54019522 Neighboring gene ChaC glutathione specific gamma-glutamylcyclotransferase 2 Neighboring gene endoplasmic reticulum lectin 1 Neighboring gene uncharacterized LOC112268415 Neighboring gene Sharpr-MPRA regulatory region 2358 Neighboring gene uncharacterized LOC124906183

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. The loss-of-function mutations and down-regulated expression of ASB3 gene promote the growth and metastasis of colorectal cancer cells. Du WY, et al. Chin J Cancer, 2017 Jan 14. PMID 28088228, Free PMC Article
  2. Genome-wide association study of short-acting β2-agonists. A novel genome-wide significant locus on chromosome 2 near ASB3. Israel E, et al. Am J Respir Crit Care Med, 2015 Mar 1. PMID 25562107, Free PMC Article
  3. Ankyrin repeat and SOCS box 3 (ASB3) mediates ubiquitination and degradation of tumor necrosis factor receptor II. Chung AS, et al. Mol Cell Biol, 2005 Jun. PMID 15899873, Free PMC Article
  4. Functional analysis of Asb-1 using genetic modification in mice. Kile BT, et al. Mol Cell Biol, 2001 Sep. PMID 11509662, Free PMC Article
  5. Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and Asb-4. Kile BT, et al. Gene, 2000 Nov 27. PMID 11111040

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ASB3 promotes hepatocellular carcinoma progression by mediating DR5 ubiquitination in TRAIL resistance.
    Title: ASB3 promotes hepatocellular carcinoma progression by mediating DR5 ubiquitination in TRAIL resistance.
  2. ASB3 dysfunction resulted from gene mutations or down-regulated expression frequently exists in colorectal cancer and likely plays a key role in the pathogenesis and progression of colorectal cancer.
    Title: The loss-of-function mutations and down-regulated expression of ASB3 gene promote the growth and metastasis of colorectal cancer cells.
  3. GWAS findings for bronchodilator response in asthmatic subjects suggest that ASB3 gene, associated with smooth muscle relaxation, may play a role in the genetics of asthma.
    Title: Genome-wide association study of short-acting β2-agonists. A novel genome-wide significant locus on chromosome 2 near ASB3.
  4. ASB3 is a negative regulator of TNF-R2-mediated cellular responses to TNF-alpha by direct targeting of TNF-R2 for ubiquitination and proteasome-mediated degradation.
    Title: Ankyrin repeat and SOCS box 3 (ASB3) mediates ubiquitination and degradation of tumor necrosis factor receptor II.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough GPR75-ASB3

Readthrough gene: GPR75-ASB3, Included gene: GPR75

Homology

Clone Names

  • MGC996, FLJ10123, FLJ10421, MGC12531, MGC132002

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to T-tubule IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cardiac muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in T-tubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ankyrin repeat and SOCS box protein 3

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.

mRNA and Protein(s)

  1. NM_001201965.2 → NP_001188894.1  ankyrin repeat and SOCS box protein 3 isoform b

    See identical proteins and their annotated locations for NP_001188894.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AC007883, AK000985, AK056069, DB558848
    Consensus CDS
    CCDS1847.1
    UniProtKB/TrEMBL
    Q53H66
    Related
    ENSP00000384728.1, ENST00000406687.5
    Conserved Domains (4) summary
    PHA03095
    Location:6 → 235
    PHA03095; ankyrin-like protein; Provisional
    cd03722
    Location:384 → 434
    SOCS_ASB3; SOCS (suppressors of cytokine signaling) box of ASB3-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ABS3 has been shown to be negative regulator of TNF-R2-mediated cellular responses to TNF-alpha ...
    sd00045
    Location:73 → 103
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:10 → 103
    Ank_2; Ankyrin repeats (3 copies)

  2. NM_016115.5 → NP_057199.1  ankyrin repeat and SOCS box protein 3 isoform a

    See identical proteins and their annotated locations for NP_057199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AK000985, DA038561, DB558848
    Consensus CDS
    CCDS1846.1
    UniProtKB/Swiss-Prot
    B3KPA3, D6W5B4, D6W5B5, G8JLA9, Q2TAI4, Q53TN0, Q53TN8, Q9NVZ2, Q9Y575
    UniProtKB/TrEMBL
    Q53HI5
    Related
    ENSP00000263634.2, ENST00000263634.8
    Conserved Domains (4) summary
    PHA03095
    Location:3 → 241
    PHA03095; ankyrin-like protein; Provisional
    cd03722
    Location:457 → 507
    SOCS_ASB3; SOCS (suppressors of cytokine signaling) box of ASB3-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ABS3 has been shown to be negative regulator of TNF-R2-mediated cellular responses to TNF-alpha ...
    sd00045
    Location:146 → 176
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:216 → 309
    Ank_2; Ankyrin repeats (3 copies)

  3. NM_145863.3 → NP_665862.1  ankyrin repeat and SOCS box protein 3 isoform b

    See identical proteins and their annotated locations for NP_665862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AK000985, AK001283, DA038561, DB558848
    Consensus CDS
    CCDS1847.1
    UniProtKB/TrEMBL
    Q53H66
    Related
    ENSP00000378206.2, ENST00000394717.3
    Conserved Domains (4) summary
    PHA03095
    Location:6 → 235
    PHA03095; ankyrin-like protein; Provisional
    cd03722
    Location:384 → 434
    SOCS_ASB3; SOCS (suppressors of cytokine signaling) box of ASB3-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ABS3 has been shown to be negative regulator of TNF-R2-mediated cellular responses to TNF-alpha ...
    sd00045
    Location:73 → 103
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:10 → 103
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    53669980..53786953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    53666238..53783156 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y575.1 GenPept UniProtKB/Swiss-Prot:Q9Y575

Gene LinkOut

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