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Aliases for ATXN7L1 Gene

Aliases for ATXN7L1 Gene

  • Ataxin 7 Like 1 2 3 5
  • Ataxin-7-Like Protein 4 3 4
  • Ataxin 7-Like 4 2 3
  • ATXN7L4 3 4
  • Ataxin-7-Like Protein 1 3
  • Ataxin 7-Like 1 2
  • KIAA1218 4

External Ids for ATXN7L1 Gene

Previous HGNC Symbols for ATXN7L1 Gene

  • ATXN7L4

Previous GeneCards Identifiers for ATXN7L1 Gene

  • GC07U901498
  • GC07M104840
  • GC07M105035
  • GC07M105189
  • GC07M105245
  • GC07M099603

Summaries for ATXN7L1 Gene

GeneCards Summary for ATXN7L1 Gene

ATXN7L1 (Ataxin 7 Like 1) is a Protein Coding gene. An important paralog of this gene is ATXN7.

Additional gene information for ATXN7L1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN7L1 Gene

Genomics for ATXN7L1 Gene

Regulatory Elements for ATXN7L1 Gene

Enhancers for ATXN7L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H105005 1.7 Ensembl ENCODE dbSUPER 54.4 +864.9 864929 12.7 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 MEF2D KMT2E ATXN7L1 RINT1 ORC5 EIF4BP6 PUS7 KMT2E-AS1 RPL36P12 YBX1P2 LINC01004
GH07H106772 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.8 -897.3 -897319 4.6 HDGF PKNOX1 ARNT YY1 ZNF766 FOS ZNF592 MEF2D SMARCA4 NBN ATXN7L1 CBLL1 ENSG00000272072 ENSG00000228742 CCDC71L ENSG00000267052 PIK3CG COG5 ENSG00000243797
GH07H104976 2 FANTOM5 Ensembl ENCODE dbSUPER 20 +895.2 895232 10.8 HNRNPUL1 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 KMT2E ATXN7L1 EIF4BP6 LINC01004 KMT2E-AS1 SRPK2 LOC101927902 GC07P104969
GH07H104940 1.8 FANTOM5 ENCODE dbSUPER 22.1 +933.6 933586 6.5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 SLC30A9 ZNF766 ORC5 RINT1 LINC01004 ATXN7L1 KMT2E RNU6-1322P KMT2E-AS1 LOC101927902 SRPK2 GC07P104968
GH07H106657 1.1 ENCODE 35.8 -782.4 -782369 5 HDGF PKNOX1 ARNT SIN3A ZNF2 ZBTB7B YY1 ZNF766 ZNF207 ZNF143 ATXN7L1 BANF1P5 CCDC71L LOC105375440
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATXN7L1 on UCSC Golden Path with GeneCards custom track

Promoters for ATXN7L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000216385 532 2201 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Locations for ATXN7L1 Gene

Genomic Locations for ATXN7L1 Gene
272,459 bases
Minus strand

Genomic View for ATXN7L1 Gene

Genes around ATXN7L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN7L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN7L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN7L1 Gene

Proteins for ATXN7L1 Gene

  • Protein details for ATXN7L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ataxin-7-like protein 1
    Protein Accession:
    Secondary Accessions:
    • A4D0Q2
    • B4DTS1
    • Q8N2T0

    Protein attributes for ATXN7L1 Gene

    861 amino acids
    Molecular mass:
    91514 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA86532.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA86532.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATXN7L1 Gene


neXtProt entry for ATXN7L1 Gene

Post-translational modifications for ATXN7L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATXN7L1 Gene

Domains & Families for ATXN7L1 Gene

Gene Families for ATXN7L1 Gene

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

Protein Domains for ATXN7L1 Gene


Suggested Antigen Peptide Sequences for ATXN7L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATXN7L1: view

No data available for UniProtKB/Swiss-Prot for ATXN7L1 Gene

Function for ATXN7L1 Gene

Phenotypes From GWAS Catalog for ATXN7L1 Gene

Gene Ontology (GO) - Molecular Function for ATXN7L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ATXN7L1: view
genes like me logo Genes that share phenotypes with ATXN7L1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATXN7L1 Gene

Localization for ATXN7L1 Gene

Subcellular locations from

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 ATXN7L1 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ATXN7L1 Gene

Pathways & Interactions for ATXN7L1 Gene

SuperPathways for ATXN7L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATXN7L1 Gene


No data available for Pathways by source and SIGNOR curated interactions for ATXN7L1 Gene

Drugs & Compounds for ATXN7L1 Gene

No Compound Related Data Available

Transcripts for ATXN7L1 Gene

Unigene Clusters for ATXN7L1 Gene

Ataxin 7-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7L1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b
SP1: -
SP3: - -

Relevant External Links for ATXN7L1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATXN7L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATXN7L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATXN7L1 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATXN7L1 Gene

Protein tissue co-expression partners for ATXN7L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATXN7L1 Gene:


SOURCE GeneReport for Unigene cluster for ATXN7L1 Gene:

genes like me logo Genes that share expression patterns with ATXN7L1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN7L1 Gene

Orthologs for ATXN7L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATXN7L1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATXN7L1 33 34
  • 99.34 (n)
(Canis familiaris)
Mammalia ATXN7L1 33 34
  • 93.93 (n)
(Bos Taurus)
Mammalia ATXN7L1 33 34
  • 93.3 (n)
(Rattus norvegicus)
Mammalia Atxn7l4 33
  • 91.87 (n)
(Mus musculus)
Mammalia Atxn7l1 33 16 34
  • 91.14 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 79 (a)
-- 34
  • 55 (a)
-- 34
  • 55 (a)
-- 34
  • 43 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
-- 34
  • 52 (a)
(Gallus gallus)
Aves ATXN7L1 33 34
  • 81.64 (n)
(Anolis carolinensis)
Reptilia ATXN7L1 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn7l1 33
  • 74.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2635 33
(Danio rerio)
Actinopterygii ATXN7L1 34
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
Species where no ortholog for ATXN7L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 ATXN7L1 Gene

Gene Tree for ATXN7L1 (if available)
Gene Tree for ATXN7L1 (if available)

Paralogs for ATXN7L1 Gene

Paralogs for ATXN7L1 Gene

(3) SIMAP similar genes for ATXN7L1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ATXN7L1: view

Variants for ATXN7L1 Gene

Sequence variations from dbSNP and Humsavar for ATXN7L1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000004182 -- 105,651,782(+) AGGAA(C/T)TCCAG intron-variant
rs1000005540 -- 105,653,320(+) GTGTA(C/T)GCCGG intron-variant
rs1000036951 -- 105,652,097(+) TGTGA(A/G)CAAGT intron-variant
rs1000039621 -- 105,646,928(+) GACAC(-/A)GTGAG intron-variant
rs1000046300 -- 105,733,122(+) AGCAG(G/T)GGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN7L1 Gene

Variant ID Type Subtype PubMed ID
nsv970568 CNV duplication 23825009
nsv824249 CNV loss 20364138
nsv608070 CNV loss 21841781
nsv5890 CNV insertion 18451855
nsv528739 CNV loss 19592680
nsv524191 CNV loss 19592680
nsv464669 CNV loss 19166990
nsv1128355 CNV deletion 24896259
nsv1114995 CNV deletion 24896259
nsv1027213 CNV gain 25217958
esv6566 CNV loss 19470904
esv3614433 CNV loss 21293372
esv3614432 CNV loss 21293372
esv3614430 CNV loss 21293372
esv3542226 CNV deletion 23714750
esv3542224 CNV deletion 23714750
esv3399923 CNV insertion 20981092
esv3357409 CNV insertion 20981092
esv3277162 CNV deletion 24192839
esv2734976 CNV deletion 23290073
esv2734975 CNV deletion 23290073
esv2734974 CNV deletion 23290073
esv2667583 CNV deletion 23128226
esv2666289 CNV deletion 23128226

Variation tolerance for ATXN7L1 Gene

Gene Damage Index Score: 3.41; 54.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATXN7L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN7L1 Gene

Disorders for ATXN7L1 Gene

Relevant External Links for ATXN7L1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for ATXN7L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATXN7L1 Gene

Publications for ATXN7L1 Gene

  1. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PMID: 15115762) Helmlinger D … Devys D (Human molecular genetics 2004) 2 3 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60
  5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 60

Products for ATXN7L1 Gene

Sources for ATXN7L1 Gene

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