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

Gene ID: 51130, updated on 22-Jan-2020

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
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

Genomic context

See ASB3 in Genome Data Viewer
Location:
2p16.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (53669980..53786953, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (53897117..54014146, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374600 Neighboring gene uncharacterized LOC105374601 Neighboring gene GPR75-ASB3 readthrough Neighboring gene ChaC cation transport regulator homolog 2 Neighboring gene endoplasmic reticulum lectin 1 Neighboring gene uncharacterized LOC112268415 Neighboring gene microRNA 3682

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ankyrin repeat and SOCS box protein 3

NCBI Reference Sequences (RefSeq)

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_001201965.2NP_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/Swiss-Prot
    Q9Y575
    Related
    ENSP00000384728.1, ENST00000406687.5
    Conserved Domains (4) summary
    cd00204
    Location:33159
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd03722
    Location:384434
    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 ...
    pfam12796
    Location:10103
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:73103
    ANK; ANK repeat [structural motif]
  2. NM_016115.5NP_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
    Q9Y575
    Related
    ENSP00000263634.2, ENST00000263634.8
    Conserved Domains (4) summary
    cd00204
    Location:146267
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd03722
    Location:457507
    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:146176
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:251345
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_145863.3NP_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/Swiss-Prot
    Q9Y575
    Related
    ENSP00000378206.2, ENST00000394717.3
    Conserved Domains (4) summary
    cd00204
    Location:33159
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd03722
    Location:384434
    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 ...
    pfam12796
    Location:10103
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:73103
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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