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    ASB7 ankyrin repeat and SOCS box containing 7 [ Homo sapiens (human) ]

    Gene ID: 140460, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ASB7provided by HGNC
    Official Full Name
    ankyrin repeat and SOCS box containing 7provided by HGNC
    Primary source
    HGNC:HGNC:17182
    See related
    Ensembl:ENSG00000183475 MIM:615052; AllianceGenome:HGNC:17182
    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 belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 4.8), thyroid (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASB7 in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (100602589..100651701)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (98357248..98406286)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101142794..101191906)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 181, pseudogene Neighboring gene MPRA-validated peak2454 silencer Neighboring gene lines homolog 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101172275-101172774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:101175533-101176034 Neighboring gene WD repeat domain 12 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101209681-101210180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10171 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:101253262-101254461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101254609-101255442 Neighboring gene uncharacterized LOC105371024 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:101262004-101263203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101305027-101305654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101305655-101306282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101308892-101309392 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:101322275-101322904 Neighboring gene MPRA-validated peak2455 silencer Neighboring gene protein enabled homolog Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:101342428-101343627 Neighboring gene PHF5A pseudogene 6

    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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    Related articles in PubMed

    1. Identification of ASB7 as ER stress responsive gene through a genome wide in silico screening for genes with ERSE. Anasa VV, et al. PLoS One, 2018. PMID 29630609, Free PMC Article
    2. ASB7 regulates spindle dynamics and genome integrity by targeting DDA3 for proteasomal degradation. Uematsu K, et al. J Cell Biol, 2016 Oct 10. PMID 27697924, Free PMC Article
    3. Ubiquitin-dependent degradation of CDK2 drives the therapeutic differentiation of AML by targeting PRDX2. Ying M, et al. Blood, 2018 Jun 14. PMID 29720484
    4. ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. Kohroki J, et al. FEBS Lett, 2005 Dec 19. PMID 16325183
    5. Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. Niu N, et al. BMC Cancer, 2012 Sep 24. PMID 23006423, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High ASB7 expression is associated with endoplasmic reticulum stress.
      Title: Identification of ASB7 as ER stress responsive gene through a genome wide in silico screening for genes with ERSE.
    2. these data indicate that ASB7 plays a crucial role in regulating spindle dynamics and genome integrity by controlling the expression of DDA3.
      Title: ASB7 regulates spindle dynamics and genome integrity by targeting DDA3 for proteasomal degradation.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22551, FLJ25192

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and SOCS box protein 7
    Names
    ASB-7

    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_024708.4 → NP_078984.2  ankyrin repeat and SOCS box protein 7 isoform 1

      See identical proteins and their annotated locations for NP_078984.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (1).
      Source sequence(s)
      AK026204, BC063581, CD632230
      Consensus CDS
      CCDS10388.1
      UniProtKB/TrEMBL
      Q53GF7
      Related
      ENSP00000339819.4, ENST00000343276.4
      Conserved Domains (3) summary
      PTZ00322
      Location:197 → 254
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      COG0666
      Location:7 → 195
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:81 → 114
      ANK; ANK repeat [structural motif]

    2. NM_198243.3 → NP_937886.1  ankyrin repeat and SOCS box protein 7 isoform 2

      See identical proteins and their annotated locations for NP_937886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' CDS and UTR, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA830153, AC090695, AK289860, CD632230
      Consensus CDS
      CCDS10387.1
      UniProtKB/Swiss-Prot
      A8K1E5, Q6GSJ6, Q7Z4S3, Q9H672
      UniProtKB/TrEMBL
      Q53GF7
      Related
      ENSP00000328327.8, ENST00000332783.12
      Conserved Domains (3) summary
      PHA02875
      Location:21 → 241
      PHA02875; ankyrin repeat protein; Provisional
      cd03726
      Location:273 → 317
      SOCS_ASB7; SOCS (suppressors of cytokine signaling) box of ASB7-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:81 → 114
      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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      100602589..100651701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      98357248..98406286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H672.2 GenPept UniProtKB/Swiss-Prot:Q9H672

    Gene LinkOut

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

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