ATXN7 ataxin 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATXN7provided by HGNC
Official Full Name: ataxin 7provided by HGNC
Primary source: HGNC:HGNC:10560
See related: Ensembl:ENSG00000163635 MIM:607640; AllianceGenome:HGNC:10560
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: SCA7; OPCA3; SGF73; ADCAII
Summary: The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in bone marrow (RPKM 8.0), testis (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3p14.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (63863144..64003462)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (63906771..64047076)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (63848820..63989138)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death.
Title: Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death.
Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
Title: Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.
Title: Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.
Deciphering the natural history of SCA7 in children.
Title: Deciphering the natural history of SCA7 in children.
Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates alpha-helix formation of the polyQ tract but suppresses its aggregation.
Title: Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates α-helix formation of the polyQ tract but suppresses its aggregation.
the SUMO pathway contributes to the clearance of aggregated ATXN7 and suggest that its deregulation might be associated with SCA7 disease progression.
Title: SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.
Genetic testing showed the presence of 48 CAG repeats within one ATXN7 gene for spinocerebellar ataxia type 7 (SCA7).
Title: Spinocerebellar Ataxia.
we observed that carriers of either ATXN7 or TBP alleles with relatively large CAG repeat sizes in both alleles had a substantially increased risk of lifetime depression.
Title: Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.
The intronic SNP rs6798742 is associated with ATXN7 CAG-region expansion.
Title: A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.
Results identified a chromosomal translocation between Rad51C and Ataxin-7 in colorectal tumors. The in-frame fusion transcript results in a fusion protein with molecular weight of 110 KDa. In vitro 5-Azacytidine treatment of colorectal tumor cells showed expression of the fusion gene is regulated by promoter methylation.
Title: Rad51C-ATXN7 fusion gene expression in colorectal tumors.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

Go to the top of the page Help

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
Spinocerebellar ataxia 7 MedGen: C0752125 OMIM: 164500 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 7	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-82827 (e-PCR)
- UniSTS:173827

SHGC-77032 (e-PCR)
- UniSTS:55556

A007I19 (e-PCR)
- UniSTS:6666

SGC30565 (e-PCR)
- UniSTS:55621

ATXN7_7871 (e-PCR)
- UniSTS:466102

SHGC-77026 (e-PCR)
- UniSTS:8640

D3S2349 (e-PCR)
- UniSTS:70103

G16540 (e-PCR)
- UniSTS:81885

SGC35083 (e-PCR)
- UniSTS:43006

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 microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleus organization	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of SAGA complex	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFTC complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: ataxin-7

Names: Autosomal dominant cerebellar ataxia with retinal degeneration; SAGA associated factor 73 kDa homolog; spinocerebellar ataxia type 7 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_008227.1 RefSeqGene

Range

4311..143906

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_866

mRNA and Protein(s)

NM_000333.4 → NP_000324.1 ataxin-7 isoform a

See identical proteins and their annotated locations for NP_000324.1

Status: REVIEWED

Description

Transcript Variant: This variant (SCA7a) represents the predominant transcript and encodes isoform a.

Source sequence(s)

AC012557, AC104162, AF032104, AJ000517, BI494079

Consensus CDS

CCDS43102.1

UniProtKB/Swiss-Prot

B4E207, E9PHP9, O15265, O75328, O75329, Q9Y6P8

UniProtKB/TrEMBL

A0A2R8YDD6

Related

ENSP00000295900.6, ENST00000295900.10

Conserved Domains (2) summary

PHA03247
Location:403 → 488

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:333 → 393

SCA7; zinc-binding domain
NM_001128149.3 → NP_001121621.2 ataxin-7 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (SCA7c) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant SCA7a. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC012557, AK304062, BI494079

Consensus CDS

CCDS46861.2

UniProtKB/TrEMBL

A0A2R8YDD6

Related

ENSP00000428277.1, ENST00000484332.1

Conserved Domains (1) summary

pfam08313
Location:188 → 247

SCA7; SCA7, zinc-binding domain
NM_001177387.1 → NP_001170858.1 ataxin-7 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (SCA7b) includes an alternate exon that causes a frameshift in the 3' coding region, compared to variant SCA7a, resulting in an isoform (b) with a distinct and longer C-terminus, compared to isoform a. The 5' UTR is incomplete in this variant due to the presence of alternate splicing choices further upstream. There are no publicly available full-length transcripts representing this variant; it is represented based on data in PMID:12533095.

Source sequence(s)

AA398030, AC012557, AJ000517, BI494079

Consensus CDS

CCDS54603.1

UniProtKB/TrEMBL

A0A2R8YDD6

Related

ENSP00000428067.2, ENST00000522345.2

Conserved Domains (1) summary

pfam08313
Location:333 → 392

SCA7; SCA7, zinc-binding domain
NM_001377405.1 → NP_001364334.1 ataxin-7 isoform a

Status: REVIEWED

Source sequence(s)

AC012557, AC104162

Consensus CDS

CCDS43102.1

UniProtKB/Swiss-Prot

B4E207, E9PHP9, O15265, O75328, O75329, Q9Y6P8

UniProtKB/TrEMBL

A0A2R8YDD6

Related

ENSP00000501377.1, ENST00000674280.1

Conserved Domains (2) summary

PHA03247
Location:403 → 488

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:333 → 393

SCA7; zinc-binding domain
NM_001377406.1 → NP_001364335.1 ataxin-7 isoform a

Status: REVIEWED

Source sequence(s)

AC012557

Consensus CDS

CCDS43102.1

UniProtKB/Swiss-Prot

B4E207, E9PHP9, O15265, O75328, O75329, Q9Y6P8

UniProtKB/TrEMBL

A0A2R8YDD6

Related

ENSP00000420234.1, ENST00000487717.5

Conserved Domains (2) summary

PHA03247
Location:403 → 488

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:333 → 393

SCA7; zinc-binding domain

RNA

NR_165269.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC012557, AC104162

Related

ENST00000643464.1
NR_165270.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC012557, AC104162