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Aliases for ATXN7L3 Gene

Aliases for ATXN7L3 Gene

  • Ataxin 7-Like 3 2 3
  • SAGA-Associated Factor 11 Homolog 4
  • ATXN7L3B 6

External Ids for ATXN7L3 Gene

Previous GeneCards Identifiers for ATXN7L3 Gene

  • GC17M039624
  • GC17M042269
  • GC17M038032

Summaries for ATXN7L3 Gene

GeneCards Summary for ATXN7L3 Gene

ATXN7L3 (Ataxin 7-Like 3) is a Protein Coding gene. Among its related pathways are RNA Polymerase I Promoter Opening and RNA Polymerase I Promoter Opening. GO annotations related to this gene include transcription coactivator activity and ligand-dependent nuclear receptor transcription coactivator activity. An important paralog of this gene is ATXN7L3B.

UniProtKB/Swiss-Prot for ATXN7L3 Gene

  • Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN7L3 Gene

Genomics for ATXN7L3 Gene

Regulatory Elements for ATXN7L3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATXN7L3 Gene

Start:
44,191,805 bp from pter
End:
44,200,113 bp from pter
Size:
8,309 bases
Orientation:
Minus strand

Genomic View for ATXN7L3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATXN7L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN7L3 Gene

Proteins for ATXN7L3 Gene

  • Protein details for ATXN7L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14CW9-AT7L3_HUMAN
    Recommended name:
    Ataxin-7-like protein 3
    Protein Accession:
    Q14CW9
    Secondary Accessions:
    • Q8IY68
    • Q96N40
    • Q9NPU5

    Protein attributes for ATXN7L3 Gene

    Size:
    347 amino acids
    Molecular mass:
    38651 Da
    Quaternary structure:
    • Component of some SAGA transcription coactivator-HAT complexes, at least composed of ATXN7, ATXN7L3, ENY2, GCN5L2, SUPT3H, TAF10, TRRAP and USP22. Within the SAGA complex, ENY2, ATXN7, ATXN7L3, and USP22 form an additional subcomplex of SAGA called the DUB module (deubiquitination module). Interacts directly with ENY2 and USP22.
    SequenceCaution:
    • Sequence=AAH37418.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB71070.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATXN7L3 Gene

    Alternative splice isoforms for ATXN7L3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATXN7L3 Gene

Proteomics data for ATXN7L3 Gene at MOPED

Post-translational modifications for ATXN7L3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATXN7L3 Gene

No data available for DME Specific Peptides for ATXN7L3 Gene

Domains for ATXN7L3 Gene

Protein Domains for ATXN7L3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATXN7L3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14CW9

UniProtKB/Swiss-Prot:

AT7L3_HUMAN :
  • Q14CW9
Domain:
  • The long N-terminal helix forms part of the assembly lobe of the SAGA deubiquitination module.
  • The C-terminal SGF11-type zinc-finger domain together with the C-terminal catalytic domain of USP22 forms the catalytic lobe of the SAGA deubiquitination module.
  • Contains 1 SCA7 domain.
Family:
  • Belongs to the SGF11 family.
Similarity:
  • Contains 1 SGF11-type zinc finger.
genes like me logo Genes that share domains with ATXN7L3: view

No data available for Gene Families for ATXN7L3 Gene

Function for ATXN7L3 Gene

Molecular function for ATXN7L3 Gene

UniProtKB/Swiss-Prot Function: Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex.

Gene Ontology (GO) - Molecular Function for ATXN7L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 18206972
GO:0005515 protein binding IPI 18206972
GO:0008270 zinc ion binding IEA --
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity IDA 18206972
genes like me logo Genes that share ontologies with ATXN7L3: view

Phenotypes for ATXN7L3 Gene

GenomeRNAi human phenotypes for ATXN7L3:
genes like me logo Genes that share phenotypes with ATXN7L3: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN7L3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATXN7L3 Gene

Localization for ATXN7L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN7L3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATXN7L3 Gene COMPARTMENTS Subcellular localization image for ATXN7L3 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for ATXN7L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000124 SAGA complex IDA 18206972
GO:0005634 nucleus --
GO:0071819 DUBm complex IEA --
genes like me logo Genes that share ontologies with ATXN7L3: view

Pathways for ATXN7L3 Gene

genes like me logo Genes that share pathways with ATXN7L3: view

Pathways by source for ATXN7L3 Gene

Gene Ontology (GO) - Biological Process for ATXN7L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0016578 histone deubiquitination IDA 18206972
GO:0045893 positive regulation of transcription, DNA-templated IDA 18206972
genes like me logo Genes that share ontologies with ATXN7L3: view

Transcripts for ATXN7L3 Gene

Unigene Clusters for ATXN7L3 Gene

Ataxin 7-like 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN7L3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATXN7L3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7L3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ·
SP1: - -
SP2:
SP3: - -
SP4: - - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10: - -

ExUns: 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ATXN7L3 Gene

GeneLoc Exon Structure for
ATXN7L3
ECgene alternative splicing isoforms for
ATXN7L3

Expression for ATXN7L3 Gene

mRNA expression in normal human tissues for ATXN7L3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATXN7L3 Gene

SOURCE GeneReport for Unigene cluster for ATXN7L3 Gene Hs.512651

genes like me logo Genes that share expressions with ATXN7L3: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATXN7L3 Gene

Orthologs for ATXN7L3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATXN7L3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATXN7L3 36
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN7L3 35
  • 96.16 (n)
  • 99.14 (a)
ATXN7L3 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN7L3 35
  • 95.76 (n)
  • 98.87 (a)
ATXN7L3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn7l3 35
  • 93.6 (n)
  • 99.44 (a)
Atxn7l3 16
Atxn7l3 36
  • 99 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atxn7l3 35
  • 92.94 (n)
  • 98.59 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn7l3 35
  • 72.48 (n)
  • 80.23 (a)
zebrafish
(Danio rerio)
Actinopterygii atxn7l3 35
  • 73.55 (n)
  • 78.76 (a)
atxn7l3 36
  • 71 (a)
ManyToMany
si:dkeyp-118b1.2 36
  • 86 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Sgf11 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10247 36
  • 39 (a)
OneToMany
Species with no ortholog for ATXN7L3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATXN7L3 Gene

ENSEMBL:
Gene Tree for ATXN7L3 (if available)
TreeFam:
Gene Tree for ATXN7L3 (if available)

Paralogs for ATXN7L3 Gene

Paralogs for ATXN7L3 Gene

Selected SIMAP similar genes for ATXN7L3 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for ATXN7L3 Gene

genes like me logo Genes that share paralogs with ATXN7L3: view

Variants for ATXN7L3 Gene

Sequence variations from dbSNP and Humsavar for ATXN7L3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1003545 -- 44,196,021(+) TGCTC(C/T)GGCTC intron-variant
rs1059666 -- 44,194,380(-) ACCAA(A/C/G)AAAAA synonymous-codon, missense, reference
rs2285951 -- 44,195,541(-) CCCCT(A/G)TCCTT intron-variant
rs3803866 -- 44,193,609(-) AGCAG(A/G)AGCTG utr-variant-3-prime
rs6503491 -- 44,194,870(+) GTTCT(A/G)AGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN7L3 Gene

Variant ID Type Subtype PubMed ID
nsv833455 CNV Loss 17160897
nsv908269 CNV Loss 21882294
nsv908270 CNV Loss 21882294
nsv908271 CNV Loss 21882294
dgv529n67 CNV Gain 20364138
nsv908272 CNV Loss 21882294

Relevant External Links for ATXN7L3 Gene

HapMap Linkage Disequilibrium report
ATXN7L3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN7L3 Gene

Disorders for ATXN7L3 Gene

No disorders were found for ATXN7L3 Gene.

No data available for UniProtKB/Swiss-Prot for ATXN7L3 Gene

Publications for ATXN7L3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PMID: 15115762) Helmlinger D. … Devys D. (Hum. Mol. Genet. 2004) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing. (PMID: 18206972) Zhao Y. … Devys D. (Mol. Cell 2008) 3 4
  5. The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements. (PMID: 21746879) Lang G. … Tora L. (Mol. Cell. Biol. 2011) 3 4

Products for ATXN7L3 Gene

Sources for ATXN7L3 Gene

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