ATXN7L3 - ataxin 7 like 3 Gene

Also Known as SGF11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56970

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 References 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 References 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 References 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

Sgf11: Sgf11 (transcriptional regulation protein) (80 - 112)

SCA7

SCA7: SCA7, zinc-binding domain (207 - 237)

  • 0
  • 100
  • 200
  • 300
  • 347 a.a.
Protein Preferred Names Protein Names

ataxin-7-like protein 3

ATXN7L3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others ATXN7L3 NCBI