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

Summary

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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 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

SHGC-12264 (e-PCR)
- UniSTS:82182

RH120980 (e-PCR)
- UniSTS:133758

G27383 (e-PCR)
- UniSTS:16266

D2S2570 (e-PCR)
- UniSTS:61834

A006Z48 (e-PCR)
- UniSTS:58769

Readthrough GPR75-ASB3

Readthrough gene: GPR75-ASB3, Included gene: GPR75

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)

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)
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)
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)