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

    Gene ID: 51666, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:16009
    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
    mouse all
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    Genomic context

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    See ASB4 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (95470656..95551317)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (96722134..96790011)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95115255..95169545)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:95005217-95006416 Neighboring gene paraoxonase 3 Neighboring gene uncharacterized LOC107986822 Neighboring gene paraoxonase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:95064127-95064697 Neighboring gene Sharpr-MPRA regulatory region 10642 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:95099762-95100961 Neighboring gene uncharacterized LOC107986823 Neighboring gene Sharpr-MPRA regulatory region 3033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:95156819-95157320 Neighboring gene uncharacterized LOC124901699 Neighboring gene Sharpr-MPRA regulatory region 6047 Neighboring gene pyruvate dehydrogenase kinase 4

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Roles of Obesity and ASB4 in Preeclampsia Pathogenesis.
      Title: The Roles of Obesity and ASB4 in Preeclampsia Pathogenesis.
    2. This analysis identified an antigen, ASB4, which was processed and presented by a cancer stem cell (CSC) subset but not by non-CSCs. The ASB4 gene was expressed in CSCs of colorectal cancer, but not in cells that had differentiated into non-CSCs.ASB4 is a tumor-associated antigen that can elicit CTL responses specific to CSCs and can discriminate between two cellular subsets of colorectal cancer.
      Title: The Antigen ASB4 on Cancer Stem Cells Serves as a Target for CTL Immunotherapy of Colorectal Cancer.
    3. Based on its differential expression, neuroanatomical distribution and colocalisation, we hypothesise that rat Asb-4 is a gene involved in energy homeostasis.
      Title: Arcuate nucleus transcriptome profiling identifies ankyrin repeat and suppressor of cytokine signalling box-containing protein 4 as a gene regulated by fasting in central nervous system feeding circuits.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC142039, MGC142041

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein autoubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul5-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and SOCS box protein 4

    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_016116.3 → NP_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)
      AC002451, AC003079, AF156779, AK096449, BC113479
      Consensus CDS
      CCDS5641.1
      UniProtKB/Swiss-Prot
      A4D1H6, O14586, Q14D68, Q8TBT2, Q9Y574
      Related
      ENSP00000321388.5, ENST00000325885.6
      Conserved Domains (3) summary
      PHA03095
      Location:80 → 321
      PHA03095; ankyrin-like protein; Provisional
      cd03723
      Location:379 → 426
      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:77 → 104
      ANK; ANK repeat [structural motif]

    2. NM_145872.3 → NP_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, ENST00000428113.5
      Conserved Domains (2) summary
      cd00204
      Location:77 → 191
      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:77 → 104
      ANK; ANK repeat [structural motif]

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      95470656..95551317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420471.1 → XP_047276427.1  ankyrin repeat and SOCS box protein 4 isoform X2

    2. XM_017012303.2 → XP_016867792.1  ankyrin repeat and SOCS box protein 4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      96722134..96790011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358389.1 → XP_054214364.1  ankyrin repeat and SOCS box protein 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y574.1 GenPept UniProtKB/Swiss-Prot:Q9Y574

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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