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

    Gene ID: 51130, updated on 14-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (53669980..53786953, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (53666238..53783156, complement)
    RS_2024_09 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 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?
    1. ASB3 expression aggravates inflammatory bowel disease by targeting TRAF6 protein stability and affecting the intestinal microbiota.
      Title: ASB3 expression aggravates inflammatory bowel disease by targeting TRAF6 protein stability and affecting the intestinal microbiota.
    2. 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.
    3. 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.
    4. 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.
    5. 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)

    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 ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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