ASB17 ankyrin repeat and SOCS box containing 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASB17provided by HGNC
Official Full Name: ankyrin repeat and SOCS box containing 17provided by HGNC
Primary source: HGNC:HGNC:19769
See related: Ensembl:ENSG00000154007 MIM:619936; AllianceGenome:HGNC:19769
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Asb-17
Summary: Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 21.2) See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (75918873..75932404, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (75756850..75775621, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (76384558..76398089, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ASB17 Facilitates the Burst of LPS-Induced Inflammation Through Maintaining TRAF6 Stability.
Title: ASB17 Facilitates the Burst of LPS-Induced Inflammation Through Maintaining TRAF6 Stability.
expressed exclusively in testis
Title: Expression of testis specific ankyrin repeat and SOCS box-containing 17 gene.

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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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Gene Ontology Provided by GOA

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 17

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_080868.3 → NP_543144.1 ankyrin repeat and SOCS box protein 17

See identical proteins and their annotated locations for NP_543144.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript and is thought to encode the functional protein.

Source sequence(s)

BC036573

Consensus CDS

CCDS671.1

UniProtKB/Swiss-Prot

B1APB8, Q8N0X5, Q8WXJ9

Related

ENSP00000284142.6, ENST00000284142.7

Conserved Domains (2) summary

cd03716
Location:251 → 294

SOCS_ASB_like; SOCS (suppressors of cytokine signaling) box of ASB (ankyrin repeat and SOCS box) and SSB (SPRY domain-containing SOCS box proteins) protein families. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence of a variable ...

cl02529
Location:95 → 177

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 ...

RNA

NR_026546.3 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK098606, BC022517