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

Gene ID: 140460, updated on 27-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
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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
  • 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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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)

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

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