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    ASB12 ankyrin repeat and SOCS box containing 12 [ Homo sapiens (human) ]

    Gene ID: 142689, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ASB12provided by HGNC
    Official Full Name
    ankyrin repeat and SOCS box containing 12provided by HGNC
    Primary source
    HGNC:HGNC:19763
    See related
    Ensembl:ENSG00000198881 MIM:300891; AllianceGenome:HGNC:19763
    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. [provided by RefSeq, Jan 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ASB12 in Genome Data Viewer
    Location:
    Xq11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (64224194..64230607, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (62649469..62655882, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (63444074..63450487, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20878 Neighboring gene uncharacterized LOC112268307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29708 Neighboring gene APC membrane recruitment protein 1 Neighboring gene RNA, 7SL, cytoplasmic 799, pseudogene Neighboring gene myotubularin related protein 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:63521683-63522184 Neighboring gene KPNA4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29710 Neighboring gene profilin 5, pseudogene

    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. A proteome-scale map of the SARS-CoV-2-human contactome. Kim DK, et al. Nat Biotechnol, 2023 Jan. PMID 36217029, Free PMC Article
    4. Protein interaction screening for the ankyrin repeats and suppressor of cytokine signaling (SOCS) box (ASB) family identify Asb11 as a novel endoplasmic reticulum resident ubiquitin ligase. Andresen CA, et al. J Biol Chem, 2014 Jan 24. PMID 24337577, Free PMC Article
    5. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ankyrin repeat and SOCS box containing 12 (ASB12) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MTMR8

    Homology

    Clone Names

    • FLJ39577

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat and SOCS box protein 12
    Names
    ankyrin repeat domain-containing SOCS box protein Asb-12

    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.

    Genomic

    1. NG_012823.2 RefSeqGene

      Range
      5025..11438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_130388.4 → NP_569059.3  ankyrin repeat and SOCS box protein 12

      See identical proteins and their annotated locations for NP_569059.3

      Status: REVIEWED

      Source sequence(s)
      AA349954, AK096896, BC069555
      Consensus CDS
      CCDS14378.2
      UniProtKB/Swiss-Prot
      J3KP57, Q2M3D5, Q52LK4, Q6ISF9, Q8N8F5, Q8WXK4
      Related
      ENSP00000355195.2, ENST00000362002.3
      Conserved Domains (4) summary
      cd00204
      Location:75 → 201
      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 ...
      pfam07525
      Location:277 → 315
      SOCS_box; SOCS box
      pfam12796
      Location:77 → 168
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:75 → 103
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      64224194..64230607 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      62649469..62655882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXK4.2 GenPept UniProtKB/Swiss-Prot:Q8WXK4

    Gene LinkOut

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

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