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ASB4 ankyrin repeat and SOCS box containing 4 [ Homo sapiens (human) ]

Gene ID: 51666, updated on 3-Jun-2018
Official Symbol
ASB4provided by HGNC
Official Full Name
ankyrin repeat and SOCS box containing 4provided by HGNC
Primary source
HGNC:HGNC:16009
See related
Ensembl:ENSG00000005981 MIM:605761; Vega:OTTHUMG00000153960
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-4
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. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]
Expression
Biased expression in adrenal (RPKM 15.4) and placenta (RPKM 0.7) See more
Orthologs
See ASB4 in Genome Data Viewer
Location:
7q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (95485439..95544738)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95115213..95169543)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene paraoxonase 2 Neighboring gene uncharacterized LOC107986823 Neighboring gene uncharacterized LOC107986824 Neighboring gene pyruvate dehydrogenase kinase 4 Neighboring gene VISTA enhancer hs1831

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC142039, MGC142041

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein autoubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Cul2-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Cul5-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
ankyrin repeat and SOCS box protein 4

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_016116.2NP_057200.1  ankyrin repeat and SOCS box protein 4 isoform a

    See identical proteins and their annotated locations for NP_057200.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC003079, AF156779, AK096449, BC113479
    Consensus CDS
    CCDS5641.1
    UniProtKB/Swiss-Prot
    Q9Y574
    Related
    ENSP00000321388.5, OTTHUMP00000204731, ENST00000325885.5, OTTHUMT00000333225
    Conserved Domains (3) summary
    cd00204
    Location:77191
    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 ...
    cd03723
    Location:379426
    SOCS_ASB4_ASB18; SOCS (suppressors of cytokine signaling) box of ASB4 and ASB18 proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. Asb4 was identified as imprinted gene in mice. The general function of the SOCS box is the ...
    sd00045
    Location:77104
    ANK; ANK repeat [structural motif]
  2. NM_145872.2NP_665879.1  ankyrin repeat and SOCS box protein 4 isoform b

    See identical proteins and their annotated locations for NP_665879.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus which lacks a SOCS box domain compared to isoform a.
    Source sequence(s)
    BC025024, BC113479
    Consensus CDS
    CCDS5642.1
    UniProtKB/Swiss-Prot
    Q9Y574
    Related
    ENSP00000397070.1, OTTHUMP00000204732, ENST00000428113.5, OTTHUMT00000333226
    Conserved Domains (2) summary
    cd00204
    Location:77191
    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 ...
    sd00045
    Location:77104
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    95485439..95544738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012303.1XP_016867792.1  ankyrin repeat and SOCS box protein 4 isoform X1

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