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

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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 EBI GWAS CatalogPubMed

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

RH93847 (e-PCR)
- UniSTS:88092

D15S1314 (e-PCR)
- UniSTS:39464

STS-N20924 (e-PCR)
- UniSTS:46671

SHGC-52663 (e-PCR)
- UniSTS:4228

SHGC-148298 (e-PCR)
- UniSTS:172976

ASB7_3711 (e-PCR)
- UniSTS:462039

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)

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]
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]