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Aliases for ATP13A4 Gene

Aliases for ATP13A4 Gene

  • ATPase 13A4 2 3
  • ATPase Type 13A4 2 3 5
  • Cation-Transporting P5-ATPase 3
  • P5-ATPase Isoform 4 4
  • EC 3.6.3.12 63
  • EC 3.6.3.n1 63
  • EC 3.6.3.8 63
  • EC 3.6.3.- 4
  • P5-ATPase 3
  • EC 3.6.3 63

External Ids for ATP13A4 Gene

Previous GeneCards Identifiers for ATP13A4 Gene

  • GC03M194603
  • GC03M193119
  • GC03M190507

Summaries for ATP13A4 Gene

GeneCards Summary for ATP13A4 Gene

ATP13A4 (ATPase 13A4) is a Protein Coding gene. Diseases associated with ATP13A4 include specific language impairment and benign epilepsy with centrotemporal spikes. Among its related pathways are Ion channel transport and Cardiac conduction. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP13A2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP13A4 Gene

Genomics for ATP13A4 Gene

Regulatory Elements for ATP13A4 Gene

Enhancers for ATP13A4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP13A4 on UCSC Golden Path with GeneCards custom track

Promoters for ATP13A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP13A4 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATP13A4 gene promoter:

Genomic Location for ATP13A4 Gene

Chromosome:
3
Start:
193,398,967 bp from pter
End:
193,593,111 bp from pter
Size:
194,145 bases
Orientation:
Minus strand

Genomic View for ATP13A4 Gene

Genes around ATP13A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP13A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP13A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP13A4 Gene

Proteins for ATP13A4 Gene

  • Protein details for ATP13A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4VNC1-AT134_HUMAN
    Recommended name:
    Probable cation-transporting ATPase 13A4
    Protein Accession:
    Q4VNC1
    Secondary Accessions:
    • B7WPC7
    • Q6UY23
    • Q8N1Q9
    • Q9H043

    Protein attributes for ATP13A4 Gene

    Size:
    1196 amino acids
    Molecular mass:
    133987 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAC21667.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP13A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP13A4 Gene

Proteomics data for ATP13A4 Gene at MOPED

Post-translational modifications for ATP13A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP13A4 Gene

Domains & Families for ATP13A4 Gene

Gene Families for ATP13A4 Gene

Suggested Antigen Peptide Sequences for ATP13A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4VNC1

UniProtKB/Swiss-Prot:

AT134_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
genes like me logo Genes that share domains with ATP13A4: view

Function for ATP13A4 Gene

Molecular function for ATP13A4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Induction:
Decreased by half in the SLI patient lymphoblasts.

Enzyme Numbers (IUBMB) for ATP13A4 Gene

Gene Ontology (GO) - Molecular Function for ATP13A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019829 cation-transporting ATPase activity IBA,TAS --
genes like me logo Genes that share ontologies with ATP13A4: view

Phenotypes for ATP13A4 Gene

GenomeRNAi human phenotypes for ATP13A4:
genes like me logo Genes that share phenotypes with ATP13A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP13A4

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP13A4 Gene

Localization for ATP13A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP13A4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP13A4 Gene COMPARTMENTS Subcellular localization image for ATP13A4 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2

No data available for Gene Ontology (GO) - Cellular Components for ATP13A4 Gene

Pathways & Interactions for ATP13A4 Gene

genes like me logo Genes that share pathways with ATP13A4: view

Pathways by source for ATP13A4 Gene

Interacting Proteins for ATP13A4 Gene

Gene Ontology (GO) - Biological Process for ATP13A4 Gene

None

No data available for SIGNOR curated interactions for ATP13A4 Gene

Drugs & Compounds for ATP13A4 Gene

(1) Drugs for ATP13A4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for ATP13A4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ATP13A4: view

Transcripts for ATP13A4 Gene

Unigene Clusters for ATP13A4 Gene

ATPase type 13A4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^
SP1: -
SP2:
SP3: -
SP4:
SP5:

ExUns: 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b
SP1: - - -
SP2:
SP3: - - - -
SP4: -
SP5:

Relevant External Links for ATP13A4 Gene

GeneLoc Exon Structure for
ATP13A4
ECgene alternative splicing isoforms for
ATP13A4

Expression for ATP13A4 Gene

mRNA expression in normal human tissues for ATP13A4 Gene

mRNA differential expression in normal tissues according to GTEx for ATP13A4 Gene

This gene is overexpressed in Thyroid (x9.3), Lung (x4.8), and Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for ATP13A4 Gene

This gene is overexpressed in Spleen (64.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATP13A4 Gene



SOURCE GeneReport for Unigene cluster for ATP13A4 Gene Hs.674423

mRNA Expression by UniProt/SwissProt for ATP13A4 Gene

Q4VNC1-AT134_HUMAN
Tissue specificity: Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adult brain expressed at low levels in all tissues examined, including the temporal lobe and putamen.
genes like me logo Genes that share expression patterns with ATP13A4: view

Protein tissue co-expression partners for ATP13A4 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ATP13A4 Gene

Orthologs for ATP13A4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP13A4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP13A4 35
  • 90.01 (n)
  • 89.11 (a)
ATP13A4 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP13A4 35
  • 90.87 (n)
  • 91.04 (a)
ATP13A4 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp13a4 35
  • 85.71 (n)
  • 87.56 (a)
Atp13a4 16
Atp13a4 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP13A4 35
  • 99.33 (n)
  • 99.67 (a)
ATP13A4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp13a4 35
  • 85.46 (n)
  • 86.89 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP13A4 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ATP13A4 35
  • 68.39 (n)
  • 65.68 (a)
ATP13A4 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP13A4 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp13a4 35
  • 65.28 (n)
  • 64.94 (a)
Str.15658 35
zebrafish
(Danio rerio)
Actinopterygii CU694233.1 36
  • 34 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32000 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea catp-5 36
  • 32 (a)
ManyToMany
catp-6 36
  • 32 (a)
ManyToMany
catp-7 36
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPK9 36
  • 26 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3249 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for ATP13A4:
  • 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)
  • 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)
  • 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)

Evolution for ATP13A4 Gene

ENSEMBL:
Gene Tree for ATP13A4 (if available)
TreeFam:
Gene Tree for ATP13A4 (if available)

Paralogs for ATP13A4 Gene

Paralogs for ATP13A4 Gene

(3) SIMAP similar genes for ATP13A4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ATP13A4: view

Variants for ATP13A4 Gene

Sequence variations from dbSNP and Humsavar for ATP13A4 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs6788448 - 193,491,389(+) CCACA(C/T)ATTAA nc-transcript-variant, reference, missense
VAR_038850 -
rs35424709 - 193,454,190(+) TGAAG(A/T)TCGCT nc-transcript-variant, reference, missense
rs736504 -- 193,522,944(-) gtgcc(A/G)gaaac intron-variant
rs1017971 -- 193,474,793(+) aAGGA(A/G)TACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP13A4 Gene

Variant ID Type Subtype PubMed ID
nsv878123 CNV Gain 21882294
nsv249 CNV Loss 15895083
nsv4175 CNV Loss 18451855
nsv526405 CNV Loss 19592680
nsv435748 CNV Deletion 17901297
esv2726425 CNV Deletion 23290073
nsv499028 CNV Loss 21111241
esv2662072 CNV Deletion 23128226
esv7599 CNV Loss 19470904
esv26041 CNV Loss 19812545
nsv437908 CNV Loss 16468122
esv2421348 CNV Deletion 20811451
dgv309n21 CNV Loss 19592680
esv2675964 CNV Deletion 23128226
esv2726426 CNV Deletion 23290073
esv4085 CNV Deletion 18987735
esv2665959 CNV Deletion 23128226
dgv1547e1 CNV Complex 17122850

Variation tolerance for ATP13A4 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.30; 97.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP13A4 Gene

HapMap Linkage Disequilibrium report
ATP13A4
Human Gene Mutation Database (HGMD)
ATP13A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP13A4 Gene

Disorders for ATP13A4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP13A4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
specific language impairment
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
speech disorder
  • speech disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT134_HUMAN
  • Note=A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders. Paracentric inversion inv(3)(q25;q29). The inversion produces a disruption of the protein. {ECO:0000269 PubMed:15925480}.

Relevant External Links for ATP13A4

Genetic Association Database (GAD)
ATP13A4
Human Genome Epidemiology (HuGE) Navigator
ATP13A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP13A4
genes like me logo Genes that share disorders with ATP13A4: view

No data available for Genatlas for ATP13A4 Gene

Publications for ATP13A4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 67
  2. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. (PMID: 15925480) Kwasnicka-Crawford D.A. … Scherer S.W. (Genomics 2005) 3 23
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for ATP13A4 Gene

Sources for ATP13A4 Gene

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