ATXN7L3 - ataxin 7 like 3 Gene

Homo sapiens

Also known as SGF11

Gene ID: 56970 | Gene type: protein coding

About ATXN7L3

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,191,805-44,199,884 (from NCBI)

This gene has 12 transcripts (splice variants), 206 orthologues and 4 paralogues. Ubiquitous expression in brain (RPKM 19.9), testis (RPKM 15.6) and 25 other tissues.

Summary

Enables nuclear receptor coactivator activity. Involved in histone deubiquitination; histone monoubiquitination; and positive regulation of transcription, DNA-templated. Located in nucleus. Part of DUBm complex and SAGA complex. [provided by Alliance of Genome Resources, Apr 2022]

ATXN7L3 Products(9)

mRNA	Protein	Name
NM_001382308.1	NP_001369237.1	ataxin-7-like protein 3 isoform a
NM_001382309.1	NP_001369238.1	ataxin-7-like protein 3 isoform b
NM_001382310.1	NP_001369239.1	ataxin-7-like protein 3 isoform a
NM_001382311.1	NP_001369240.1	ataxin-7-like protein 3 isoform b
NM_001382312.1	NP_001369241.1	ataxin-7-like protein 3 isoform b
NM_001382313.1	NP_001369242.1	ataxin-7-like protein 3 isoform b
NM_001382314.1	NP_001369243.1	ataxin-7-like protein 3 isoform c
NM_001382315.1	NP_001369244.1	ataxin-7-like protein 3 isoform c
NM_001382316.1	NP_001369245.1	ataxin-7-like protein 3 isoform d

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables nuclear receptor coactivator activity	IDA IDA: Inferred from direct assay	18206972	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18206972	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	18206972	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18206972	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9603525	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of DUBm complex	IDA IDA: Inferred from direct assay	27601583	GOA
part of SAGA complex	IDA IDA: Inferred from direct assay	18206972	GOA
located in nucleus	IDA IDA: Inferred from direct assay	27601583	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATXN7L3 Protein Structure

Sgf11

SCA7

0
100
200
300
347 a.a.

Protein Preferred Names

Protein Names

ataxin-7-like protein 3

ATXN7L3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ATXN7L3	Q14CW9	USP22	Homo sapiens	Q9UPT9-2	Validated Y2H	32296183
Intra	ATXN7L3	Q14CW9	ENY2	Homo sapiens	Q9NPA8	Validated Y2H	32296183
Intra	ATXN7L3	Q14CW9	ENY2	Homo sapiens	Q9NPA8	Anti Tag CoIP	33961781
Intra	ATXN7L3	Q14CW9	ENY2	Homo sapiens	Q9NPA8	TAP	24981860

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Non-Syndromic X-Linked Intellectual Disability 99

Mrx99

X-Linked Mental Retardation 99

Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Type 7	SCA7
Opca3	Opca Iii
Olivopontocerebellar Atrophy Iii	Opca With Retinal Degeneration
Opca With Macular Degeneration And External Ophthalmoplegia	Adca, Type Ii
Autosomal Dominant Cerebellar Ataxia Type 2	Olivopontocerebellar Atrophy 3
Autosomal Dominant Cerebellar Ataxia, Type Ii	Autosomal Dominant Cerebellar Ataxia Type Ii
Adca2	Adcaii
Ataxia With Pigmentary Retinopathy	Cerebellar Syndrome-Pigmentary Maculopathy Syndrome
Olivopontocerebellar Atrophy With Retinal Degeneration	Spinocerebellar Ataxia-7
Ataxia, Spinocerebellar, Type 7

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01262	ATXN7L3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATXN7L3	VGNC	VGNC:26345
Macaca mulatta	ATXN7L3	VGNC	VGNC:70128
Canis familiaris	ATXN7L3	VGNC	VGNC:38306
Mus musculus	ATXN7L3	MGD	MGI:3036270
Rattus norvegicus	ATXN7L3	RGD	RGD:1311493
Felis catus	ATXN7L3	VGNC	VGNC:60040

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