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    ASB1 ankyrin repeat and SOCS box containing 1 [ Homo sapiens (human) ]

    Gene ID: 51665, updated on 29-Mar-2023

    Summary

    Official Symbol
    ASB1provided by HGNC
    Official Full Name
    ankyrin repeat and SOCS box containing 1provided by HGNC
    Primary source
    HGNC:HGNC:16011
    See related
    Ensembl:ENSG00000065802 MIM:605758; AllianceGenome:HGNC:16011
    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-1
    Summary
    The protein encoded by this gene contains an 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, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
    Expression
    Ubiquitous expression in brain (RPKM 9.2), heart (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ASB1 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238426927..238452250)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238917065..238942362)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239335568..239360891)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239330367-239331026 Neighboring gene uncharacterized LOC124908002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239334149-239334684 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:239347665-239348864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239349077-239349578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239349579-239350078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239358923-239359430 Neighboring gene uncharacterized LOC107986003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239359431-239359936 Neighboring gene zinc finger protein 256 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:239363467-239363967 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:239417633-239418320

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1146, MGC11165

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cytokine production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ankyrin repeat and SOCS box protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001040445.3NP_001035535.1  ankyrin repeat and SOCS box protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001035535.1

      Status: REVIEWED

      Source sequence(s)
      AC016999, BC014528
      Consensus CDS
      CCDS33416.1
      UniProtKB/Swiss-Prot
      Q9ULS4, Q9Y576
      Related
      ENSP00000264607.4, ENST00000264607.9
      Conserved Domains (5) summary
      PHA02875
      Location:80266
      PHA02875; ankyrin repeat protein; Provisional
      cd03720
      Location:294335
      SOCS_ASB1; SOCS (suppressors of cytokine signaling) box of ASB1-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. The ...
      sd00045
      Location:79108
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:82173
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:22108
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_001330196.2NP_001317125.1  ankyrin repeat and SOCS box protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC016999
      Consensus CDS
      CCDS82582.1
      UniProtKB/TrEMBL
      B9A047
      Related
      ENSP00000387025.1, ENST00000409297.1
      Conserved Domains (3) summary
      cd00204
      Location:39165
      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 ...
      cd03720
      Location:193234
      SOCS_ASB1; SOCS (suppressors of cytokine signaling) box of ASB1-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. The ...
      sd00045
      Location:3871
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      238426927..238452250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238917065..238942362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016114.3: Suppressed sequence

      Description
      NM_016114.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.