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Aliases for ATXN7L3 Gene

Aliases for ATXN7L3 Gene

  • Ataxin 7 Like 3 2 3 5
  • SAGA-Associated Factor 11 Homolog 4
  • Ataxin 7-Like 3 2

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 Chromatin organization. Gene Ontology (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 (PubMed:18206972, PubMed:21746879). 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 (PubMed:18206972). Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B (PubMed:27601583).

Additional gene information for ATXN7L3 Gene

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

Genomics for ATXN7L3 Gene

GeneHancer (GH) Regulatory Elements for ATXN7L3 Gene

Promoters and enhancers for ATXN7L3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I044197 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.2 +0.7 738 4.3 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 POLR2B ZNF766 ZNF143 ATXN7L3 ENSG00000267394 LOC101926967 PIR47424 GC17M044204 DBF4B ASB16-AS1 DCAKD UBTF DHX8
GH17I044203 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.8 -4.3 -4340 1.7 PKNOX1 ARNT ARID4B SIN3A ZNF143 FOS SP3 SP5 REST ZNF184 ASB16-AS1 ASB16 UBTF LINC00910 DHX8 TMUB2 SLC25A39 FAM171A2 HDAC5 ENSG00000221044
GH17I044202 Enhancer 1 Ensembl ENCODE dbSUPER 0.8 -2.9 -2870 1 ZNF639 CTCF ZNF316 ZNF184 ZNF837 CBFA2T3 MAFK ZNF7 SLC25A39 ASB16 FAM171A2 HDAC5 ENSG00000221044 ATXN7L3 LOC101926967 MIR6782 ENSG00000267394
GH17I044190 Enhancer 0.8 ENCODE dbSUPER 0.4 +7.7 7718 4 ZNF362 ZNF398 ELF1 ZIC2 SP1 SSRP1 POLR2A ZNF341 ZNF143 ZNF600 PIR49601 PIR58445 GC17M044232 ASB16 TMEM101 NAGS ENSG00000267505 PIR53071 ATXN7L3 TMUB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATXN7L3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATXN7L3 gene promoter:

Genomic Locations for ATXN7L3 Gene

Genomic Locations for ATXN7L3 Gene
chr17:44,191,805-44,200,113
(GRCh38/hg38)
Size:
8,309 bases
Orientation:
Minus strand
chr17:42,269,173-42,277,481
(GRCh37/hg19)

Genomic View for ATXN7L3 Gene

Genes around ATXN7L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN7L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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) (PubMed:18206972, PubMed:21746879, PubMed:27601583). Interacts directly with ENY2 and USP22 (PubMed:18206972).
    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

Post-translational modifications for ATXN7L3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ATXN7L3 Gene

Domains & Families for ATXN7L3 Gene

Gene Families for ATXN7L3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • The long N-terminal helix forms part of the assembly lobe of the SAGA deubiquitination module.
  • Belongs to the SGF11 family.
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.
Family:
  • Belongs to the SGF11 family.
genes like me logo Genes that share domains with ATXN7L3: view

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 (PubMed:18206972, PubMed:21746879). 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 (PubMed:18206972). Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B (PubMed:27601583).

Phenotypes From GWAS Catalog for ATXN7L3 Gene

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:0030374 ligand-dependent nuclear receptor transcription coactivator activity IDA 18206972
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATXN7L3: view
genes like me logo Genes that share phenotypes with ATXN7L3: view

Animal Models for ATXN7L3 Gene

MGI Knock Outs for ATXN7L3:

Animal Model Products

miRNA for ATXN7L3 Gene

miRTarBase miRNAs that target ATXN7L3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATXN7L3 Gene

Localization for ATXN7L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN7L3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATXN7L3 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Plasma membrane (2)
See all subcellular structures

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 IEA,IDA 27601583
GO:0071819 DUBm complex IDA 27601583
genes like me logo Genes that share ontologies with ATXN7L3: view

Pathways & Interactions 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0010390 histone monoubiquitination IDA 27601583
GO:0016569 covalent chromatin modification IEA --
GO:0016578 histone deubiquitination IDA 18206972
genes like me logo Genes that share ontologies with ATXN7L3: view

No data available for SIGNOR curated interactions for ATXN7L3 Gene

Drugs & Compounds for ATXN7L3 Gene

No Compound Related Data Available

Transcripts for ATXN7L3 Gene

Unigene Clusters for ATXN7L3 Gene

Ataxin 7-like 3:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ATXN7L3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATXN7L3 Gene

This gene is overexpressed in Colon muscle (48.4) and Bone marrow mesenchymal stem cell (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATXN7L3 Gene



Protein tissue co-expression partners for ATXN7L3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATXN7L3 Gene:

ATXN7L3

SOURCE GeneReport for Unigene cluster for ATXN7L3 Gene:

Hs.512651

Evidence on tissue expression from TISSUES for ATXN7L3 Gene

  • Nervous system(5)
  • Liver(4.2)
  • Skin(3.1)
  • Eye(2.5)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ATXN7L3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
cow
(Bos Taurus)
Mammalia ATXN7L3 33 34
  • 96.16 (n)
dog
(Canis familiaris)
Mammalia ATXN7L3 33 34
  • 95.76 (n)
mouse
(Mus musculus)
Mammalia Atxn7l3 33 16 34
  • 93.6 (n)
rat
(Rattus norvegicus)
Mammalia Atxn7l3 33
  • 92.94 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ATXN7L3 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn7l3 33
  • 72.48 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-118b1.2 34
  • 86 (a)
ManyToMany
atxn7l3 33 34
  • 73.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sgf11 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10247 34
  • 39 (a)
OneToMany
Species where no ortholog for ATXN7L3 was found in the sources mined by GeneCards:
  • 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

(1) 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 Variation AA Info Type
rs1000282150 -- 44,201,150(-) T/G upstream_transcript_variant
rs1000472549 -- 44,199,889(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000503756 -- 44,200,089(-) C/A upstream_transcript_variant
rs1000673194 -- 44,195,313(-) G/T intron_variant
rs1001342076 -- 44,198,200(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv833455 CNV loss 17160897
nsv1146669 OTHER inversion 26484159
dgv529n67 CNV gain 20364138

Variation tolerance for ATXN7L3 Gene

Residual Variation Intolerance Score: 28.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATXN7L3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN7L3

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

Disorders for ATXN7L3 Gene

Additional Disease Information for ATXN7L3

No disorders were found for ATXN7L3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATXN7L3 Gene

Publications for ATXN7L3 Gene

  1. Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA Deubiquitinase Module. (PMID: 27601583) Li W … Dent SY (Molecular and cellular biology 2016) 3 4 58
  2. The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements. (PMID: 21746879) Lang G … Tora L (Molecular and cellular biology 2011) 3 4 58
  3. The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties. (PMID: 20634802) Bonnet J … Kieffer B (EMBO reports 2010) 3 4 58
  4. A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing. (PMID: 18206972) Zhao Y … Devys D (Molecular cell 2008) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ATXN7L3 Gene

Sources for ATXN7L3 Gene

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