ASB12 ankyrin repeat and SOCS box containing 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASB12provided by HGNC
Official Full Name: ankyrin repeat and SOCS box containing 12provided by HGNC
Primary source: HGNC:HGNC:19763
See related: Ensembl:ENSG00000198881 MIM:300891; AllianceGenome:HGNC:19763
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 a 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. [provided by RefSeq, Jan 2011]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (64224194..64230607, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (62649469..62655882, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (63444074..63450487, complement)

Chromosome X - NC_000023.11 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
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?

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ankyrin repeat and SOCS box containing 12 (ASB12) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41896 (e-PCR)
- UniSTS:10607

RH103321 (e-PCR)
- UniSTS:97652

NoName (e-PCR)
- UniSTS:480997

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin repeat and SOCS box protein 12

Names: ankyrin repeat domain-containing SOCS box protein Asb-12

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_012823.2 RefSeqGene

Range

5025..11438

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_130388.4 → NP_569059.3 ankyrin repeat and SOCS box protein 12

See identical proteins and their annotated locations for NP_569059.3

Status: REVIEWED

Source sequence(s)

AA349954, AK096896, BC069555

Consensus CDS

CCDS14378.2

UniProtKB/Swiss-Prot

J3KP57, Q2M3D5, Q52LK4, Q6ISF9, Q8N8F5, Q8WXK4

Related

ENSP00000355195.2, ENST00000362002.3

Conserved Domains (4) summary

cd00204
Location:75 → 201

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 ...

pfam07525
Location:277 → 315

SOCS_box; SOCS box

pfam12796
Location:77 → 168

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:75 → 103

ANK; ANK repeat [structural motif]