ASB10 ankyrin repeat and SOCS box containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASB10provided by HGNC
Official Full Name: ankyrin repeat and SOCS box containing 10provided by HGNC
Primary source: HGNC:HGNC:17185
See related: Ensembl:ENSG00000146926 MIM:615054; AllianceGenome:HGNC:17185
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
Also known as: GLC1F
Summary: The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]
Expression: Biased expression in heart (RPKM 1.4), prostate (RPKM 0.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (151175698..151187792, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (152348791..152360884, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150872785..150884879, complement)

Chromosome 7 - NC_000007.14 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?

Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea.
Title: Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea.
Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population
Title: Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.
These findings suggested that the genes in the GLC1F locus may be associated with the pathogenesis of normal tension glaucoma.
Title: Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma.
ASB10 may play a role in ubiquitin-mediated degradation pathways in tabecular meshwork cells.
Title: Ankyrin repeat and suppressor of cytokine signaling box containing protein-10 is associated with ubiquitin-mediated degradation pathways in trabecular meshwork cells.
non-synonymous mutations in ASB10 do not cause Mendelian forms of primary open angle glaucoma
Title: Analysis of ASB10 variants in open angle glaucoma.
Variants in ASB10 are associated with open-angle glaucoma.
Title: Variants in ASB10 are associated with open-angle glaucoma.

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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

Associated conditions

Description	Tests
Glaucoma 1, open angle, F MedGen: C1863926 OMIM: 603383 GeneReviews: Not available	Compare labs

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

NoName (e-PCR)
- UniSTS:481462

NoName (e-PCR)
- UniSTS:485847

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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin repeat and SOCS box protein 10

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_017016.1 RefSeqGene

Range

5583..17135

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142459.2 → NP_001135931.2 ankyrin repeat and SOCS box protein 10 isoform 1

See identical proteins and their annotated locations for NP_001135931.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The transcript contains an in-frame start site 45 codons upstream from the currently annotated site. The annotated downstream AUG is better conserved and has a strong Kozak signal.

Source sequence(s)

AF417920, AK055536

Consensus CDS

CCDS47750.2

UniProtKB/Swiss-Prot

A0AVH0, Q6ZUL6, Q8WXI3

Related

ENSP00000391137.2, ENST00000420175.3

Conserved Domains (4) summary

cd00204
Location:148 → 256

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 ...

sd00045
Location:148 → 178

ANK; ANK repeat [structural motif]

pfam13637
Location:117 → 168

Ank_4; Ankyrin repeats (many copies)

cl02533
Location:421 → 439

SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...
NM_001142460.1 → NP_001135932.2 ankyrin repeat and SOCS box protein 10 isoform 2

See identical proteins and their annotated locations for NP_001135932.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. The transcript contains an in-frame start site 45 codons upstream from the currently annotated site. The annotated downstream AUG is better conserved and has a strong Kozak signal.

Source sequence(s)

AF417920, AK055536

Consensus CDS

CCDS47749.2

UniProtKB/TrEMBL

A0A090N8I2

Related

ENSP00000275838.1, ENST00000275838.5

Conserved Domains (5) summary

cd00204
Location:148 → 256

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 ...

pfam12796
Location:152 → 245

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:117 → 168

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:148 → 178

ANK; ANK repeat [structural motif]

cl02533
Location:383 → 401

SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...
NM_080871.4 → NP_543147.2 ankyrin repeat and SOCS box protein 10 isoform 3

See identical proteins and their annotated locations for NP_543147.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' exon and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AF417920, AK055536, AK125565, DA898875

Consensus CDS

CCDS5921.2

UniProtKB/Swiss-Prot

Q8WXI3

Related

ENSP00000367098.3, ENST00000377867.7

Conserved Domains (5) summary

cd00204
Location:133 → 241

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 ...

pfam12796
Location:137 → 230

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:102 → 153

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:133 → 163

ANK; ANK repeat [structural motif]

cl02533
Location:406 → 424

SOCS; SOCS (suppressors of cytokine signaling) box. The SOCS box is found in the C-terminal region of CIS/SOCS family proteins (in combination with a SH2 domain), ASBs (ankyrin repeat-containing proteins with a SOCS box), SSBs (SPRY domain-containing proteins ...