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

    Gene ID: 79754, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    See ASB13 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5638867..5666595, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5642670..5670391, complement)
    RS_2024_09 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

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_024701.4NP_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:46170
      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:237278
      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:121212
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1972
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:119147
      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_2024_08

    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)