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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

GeneHancer (GH) Regulatory Elements for ATXN7L1 Gene

Promoters and enhancers for ATXN7L1 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
GH07J105875 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 665.4 +0.2 224 2.9 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ATXN7L1 CDHR3 KMT2E KMT2E-AS1
GH07J105675 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 650.1 +199.6 199551 4.3 HDAC1 PKNOX1 FOXA2 BATF RAD21 YY1 ZFP91 CREM RXRA CEBPB ATXN7L1 PIR36718 EFCAB10
GH07J105005 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 71.5 +864.9 864928 12.7 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 KMT2E LINC01004 ATXN7L1 RINT1 EIF4BP6 ORC5 KMT2E-AS1 PUS7 YBX1P2 RPL36P12
GH07J105531 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 49.2 +344.7 344682 2.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 RINT1 PUS7 ATXN7L1 LOC100131785 KMT2E KMT2E-AS1 EIF4BP6 ENSG00000272604 GC07P105567
GH07J106657 Promoter/Enhancer 1.6 Ensembl ENCODE 48.2 -782.4 -782369 5 HDGF PKNOX1 SMAD1 ARNT SIN3A ZNF2 ZBTB7B YY1 POLR2B ZNF766 CCDC71L ATXN7L1 BANF1P5 LOC105375440 ENSG00000243797
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATXN7L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATXN7L1 gene promoter:
  • ATF
  • STAT5A
  • GATA-1
  • Max1
  • Elk-1
  • AML1a
  • FOXL1
  • Msx-1
  • FOXO4
  • Lhx3a

Genomic Locations for ATXN7L1 Gene

Genomic Locations for ATXN7L1 Gene
chr7:105,604,774-105,877,232
(GRCh38/hg38)
Size:
272,459 bases
Orientation:
Minus strand
chr7:105,245,221-105,517,050
(GRCh37/hg19)
Size:
271,830 bases
Orientation:
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:
    Q9ULK2-AT7L1_HUMAN
    Recommended name:
    Ataxin-7-like protein 1
    Protein Accession:
    Q9ULK2
    Secondary Accessions:
    • A4D0Q2
    • B4DTS1
    • Q8N2T0

    Protein attributes for ATXN7L1 Gene

    Size:
    861 amino acids
    Molecular mass:
    91514 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

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

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 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

None

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: -
SP2:
SP3: - -

Relevant External Links for ATXN7L1 Gene

GeneLoc Exon Structure for
ATXN7L1
ECgene alternative splicing isoforms for
ATXN7L1

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 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:

ATXN7L1

SOURCE GeneReport for Unigene cluster for ATXN7L1 Gene:

Hs.745056
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
chimpanzee
(Pan troglodytes)
Mammalia ATXN7L1 34 33
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN7L1 34 33
  • 93.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN7L1 34 33
  • 93.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn7l4 33
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Atxn7l1 16 34 33
  • 91.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 79 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATXN7L1 34 33
  • 81.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATXN7L1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn7l1 33
  • 74.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2635 33
zebrafish
(Danio rerio)
Actinopterygii ATXN7L1 34
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ATXN7L1 (if available)
TreeFam:
Gene Tree for ATXN7L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATXN7L1: view image

Paralogs for ATXN7L1 Gene

Paralogs for ATXN7L1 Gene

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

  • AT7L1_HUMAN
  • C9IZF2_HUMAN
  • C9K0V9_HUMAN
  • F8WDE7_HUMAN
  • H0Y8A2_HUMAN
  • Q9BTQ8_HUMAN
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 Variation AA Info Type
rs1000004182 -- 105,651,782(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000005540 -- 105,653,320(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000036951 -- 105,652,097(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000039621 -- 105,646,928(-) A/ genic_downstream_transcript_variant, intron_variant
rs1000046300 -- 105,733,122(-) G/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant

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

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

Variation tolerance for ATXN7L1 Gene

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

Additional Variant Information for ATXN7L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN7L1

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

Disorders for ATXN7L1 Gene

Additional Disease Information for ATXN7L1

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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  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 58

Products for ATXN7L1 Gene

Sources for ATXN7L1 Gene

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