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

Gene ID: 79754, updated on 21-Dec-2019

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
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

Genomic context

See ASB13 in Genome Data Viewer
Location:
10p15.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (5638867..5666595, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5680820..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 transcription activation suppressor family member 2 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13134, MGC19879

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

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_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
    Q8WXK3
    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: 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_000010.11 Reference GRCh38.p13 Primary Assembly

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