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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
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Genomic context

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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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