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

Gene ID: 140460, updated on 19-Sep-2024

Summary

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

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

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_024708.4NP_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:197254
    PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
    COG0666
    Location:7195
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:81114
    ANK; ANK repeat [structural motif]
  2. NM_198243.3NP_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:21241
    PHA02875; ankyrin repeat protein; Provisional
    cd03726
    Location:273317
    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:81114
    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)