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    ASB13 ankyrin repeat and SOCS box containing 13 [ Homo sapiens (human) ]

    Gene ID: 79754, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ASB13provided by HGNC
    Official Full Name
    ankyrin repeat and SOCS box containing 13provided by HGNC
    Primary source
    HGNC:HGNC:19765
    See related
    Ensembl:ENSG00000196372 MIM:615055; AllianceGenome:HGNC:19765
    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
    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 a 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. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 21.1), small intestine (RPKM 13.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASB13 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5638867..5666595, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5642670..5670391, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5680830..5708558, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984199 Neighboring gene long intergenic non-protein coding RNA 2677 Neighboring gene RNA, 7SL, cytoplasmic 445, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5702971-5703707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2085 Neighboring gene transcription activation suppressor family member 2 Neighboring gene Sharpr-MPRA regulatory region 2494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5793844-5794458 Neighboring gene GDP dissociation inhibitor 2 Neighboring gene nuclear receptor binding factor 2 pseudogene 5

    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. ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. Kohroki J, et al. FEBS Lett, 2005 Dec 19. PMID 16325183
    2. The SOCS box: a tale of destruction and degradation. Kile BT, et al. Trends Biochem Sci, 2002 May. PMID 12076535
    3. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. Xie T, et al. Neurobiol Aging, 2014 Jul. PMID 24529757
    4. CRL4(AMBRA1) targets Elongin C for ubiquitination and degradation to modulate CRL5 signaling. Chen SH, et al. EMBO J, 2018 Sep 14. PMID 30166453, Free PMC Article
    5. Mapping the interactome of HPV E6 and E7 oncoproteins with the ubiquitin-proteasome system. Poirson J, et al. FEBS J, 2017 Oct. PMID 28786561

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    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
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    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

    Homology

    Clone Names

    • FLJ13134, MGC19879

    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 13
    Names
    ankyrin repeat domain-containing SOCS box protein Asb-13

    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_024701.4 → NP_078977.2  ankyrin repeat and SOCS box protein 13

      See identical proteins and their annotated locations for NP_078977.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AF403031, AI377400, AK292071, BP249999
      Consensus CDS
      CCDS7070.1
      UniProtKB/Swiss-Prot
      A8K7Q6, D3DRR2, Q8WXK3, Q96EP7, Q9H8Z1
      Related
      ENSP00000350331.6, ENST00000357700.11
      Conserved Domains (5) summary
      cd00204
      Location:46 → 170
      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 ...
      cd03729
      Location:237 → 278
      SOCS_ASB13; SOCS (suppressors of cytokine signaling) box of ASB13-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. The general function of the SOCS box is the recruitment of the ubiquitin-transferase system. ...
      pfam12796
      Location:121 → 212
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:19 → 72
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:119 → 147
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_024581.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF403031, AI377400, AK292071, BG436652, BP249999
      Related
      ENST00000479033.1

    2. NR_037164.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF403031, AI377400, BC012056, BP249999
      Related
      ENST00000459912.5

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      5638867..5666595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5642670..5670391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXK3.2 GenPept UniProtKB/Swiss-Prot:Q8WXK3

    Gene LinkOut

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