ASB11 ankyrin repeat and SOCS box containing 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASB11provided by HGNC
Official Full Name: ankyrin repeat and SOCS box containing 11provided by HGNC
Primary source: HGNC:HGNC:17186
See related: Ensembl:ENSG00000165192 MIM:300626; AllianceGenome:HGNC:17186
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 is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain 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, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Expression: Biased expression in heart (RPKM 11.7), stomach (RPKM 1.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15281697..15315640, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (14864580..14898525, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15299819..15333762, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study reveals that different cellular stresses regulate BIK ubiquitination by ASB11 in opposing directions, which determines whether or not cells survive, and that blocking BIK degradation has the potential to be used as an anti-cancer strategy.
Title: BIK ubiquitination by the E3 ligase Cul5-ASB11 determines cell fate during cellular stress.
ASB11 is a novel endoplasmic reticulum-associated ubiquitin ligase with the ability to interact and promote the ubiquitination of Ribophorin 1, an integral protein of the oligosaccharyltransferase (OST) glycosylation complex.
Title: Protein interaction screening for the ankyrin repeats and suppressor of cytokine signaling (SOCS) box (ASB) family identify Asb11 as a novel endoplasmic reticulum resident ubiquitin ligase.

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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

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

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

DXS9902 (e-PCR), detects polymorphism
- UniSTS:73076

NoName (e-PCR)
- UniSTS:480689

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K11-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul5-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin repeat and SOCS box protein 11

Names: ASB-11; ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase; ankyrin repeat domain-containing SOCS box protein ASB11

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.

Genomic

NG_012627.1 RefSeqGene

Range

4966..38909

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012428.2 → NP_001012428.1 ankyrin repeat and SOCS box protein 11 isoform b

See identical proteins and their annotated locations for NP_001012428.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AC095351, AF425642, BX537853, BX537857

Consensus CDS

CCDS35209.1

UniProtKB/TrEMBL

Q7Z670

Related

ENSP00000343408.4, ENST00000344384.8

Conserved Domains (5) summary

cd00204
Location:45 → 162

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 ...

cd03728
Location:261 → 302

SOCS_ASB_9_11; SOCS (suppressors of cytokine signaling) box of ASB9 and 11 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. ...

pfam12796
Location:146 → 237

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:45 → 97

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:45 → 74

ANK; ANK repeat [structural motif]
NM_001201583.2 → NP_001188512.1 ankyrin repeat and SOCS box protein 11 isoform c

See identical proteins and their annotated locations for NP_001188512.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform 1.

Source sequence(s)

AC095351, BX537857

Consensus CDS

CCDS56596.1

UniProtKB/Swiss-Prot

Q8WXH4

Related

ENSP00000369837.3, ENST00000380470.7

Conserved Domains (4) summary

cd00204
Location:108 → 230

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 ...

cd03728
Location:265 → 306

SOCS_ASB_9_11; SOCS (suppressors of cytokine signaling) box of ASB9 and 11 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. ...

pfam12796
Location:150 → 241

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:148 → 176

ANK; ANK repeat [structural motif]
NM_080873.3 → NP_543149.1 ankyrin repeat and SOCS box protein 11 isoform a

See identical proteins and their annotated locations for NP_543149.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC095351, AF425642, BX537857

Consensus CDS

CCDS14164.1

UniProtKB/Swiss-Prot

E9PEN1, Q3SYC4, Q7Z667, Q8WXH4

UniProtKB/TrEMBL

Q7Z670

Related

ENSP00000417914.1, ENST00000480796.6

Conserved Domains (5) summary

cd00204
Location:66 → 183

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 ...

cd03728
Location:282 → 323

SOCS_ASB_9_11; SOCS (suppressors of cytokine signaling) box of ASB9 and 11 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. ...

pfam12796
Location:167 → 258

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:66 → 118

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:66 → 95

ANK; ANK repeat [structural motif]