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Aliases for ATP13A4 Gene

Aliases for ATP13A4 Gene

  • ATPase 13A4 2 3 5
  • ATPase Type 13A4 2 3
  • Probable Cation-Transporting ATPase 13A4 3
  • Cation-Transporting P5-ATPase 3
  • P5-ATPase Isoform 4 4
  • EC 3.6.3.12 61
  • EC 3.6.3.n1 61
  • EC 3.6.3.8 61
  • EC 3.6.3.- 4
  • P5-ATPase 3
  • EC 3.6.3 61

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 Centrotemporal Epilepsy. 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 ATP13A5.

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 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
GH03F193659 1 ENCODE 25.1 -67.8 -67771 2.1 ATF1 PKNOX1 ARNT CREB3L1 ELK1 GATA2 NCOA1 CREB3 MBD2 MEF2D ATP13A4 OPA1-AS1 ENSG00000236297 LOC102724808
GH03F193656 0.8 ENCODE 25.3 -64.1 -64119 2.3 HDAC1 CTCF IRF2 TBL1XR1 TAL1 ZNF644 RELA ZNF316 NCOR1 SCRT2 ATP13A4 OPA1-AS1 OPA1 LOC102724808
GH03F193592 1.2 ENCODE 12.8 -0.7 -669 3.1 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 ATP13A4 LRRC15 OPA1 GC03P193625
GH03F193489 0.9 FANTOM5 ENCODE 16.9 +102.3 102336 3.5 ZNF680 SMARCA4 GLIS1 FEZF1 ATP13A4 ATP13A4-AS1 ATP13A5
GH03F193589 1.2 Ensembl ENCODE 11.8 +2.7 2738 1.2 ATF1 PKNOX1 GATA2 FOS KLF13 SP3 JUNB CREB3 MEF2D SMARCA4 ATP13A4 ENSG00000236297 EEF1A1P23
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001383037 -589 2601 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2

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

Selected DME Specific Peptides for ATP13A4 Gene

Q4VNC1:
  • GRAALVTSF
  • FARMSPGQKSSL
  • TVMITGDN
  • TGESIPV
  • DKTGTLT
  • VQKIRYVW
  • YAQRRLKK
  • MLTGESIPV
  • FPFSSALQRM
  • PCDAVLI
  • QGFRVIALA
  • FKYMALYS
  • VPPALPA
  • TGDNLQTA
  • NTAKGDLVRSILYP
  • LLRTTDEF
  • VGMCGDGANDCGALK
  • SPPLLLS
  • HVLFCGTEVIQ

Post-translational modifications for ATP13A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IEA --
GO:0019829 cation-transporting ATPase activity TAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP13A4: view
genes like me logo Genes that share phenotypes with ATP13A4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP13A4

Inhibitory RNA Products

Flow Cytometry 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
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 ATP13A4 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for ATP13A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with ATP13A4: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006812 cation transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0034220 ion transmembrane transport TAS --
GO:0098655 cation transmembrane transport IEA --
genes like me logo Genes that share ontologies with ATP13A4: view

No data available for SIGNOR curated interactions for ATP13A4 Gene

Drugs & Compounds for ATP13A4 Gene

(3) Drugs for ATP13A4 Gene - From: HMDB

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

(1) 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
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for ATP13A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP13A4 Gene:

ATP13A4

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

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
chimpanzee
(Pan troglodytes)
Mammalia ATP13A4 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia ATP13A4 34 35
  • 90.87 (n)
cow
(Bos Taurus)
Mammalia ATP13A4 34 35
  • 90.01 (n)
mouse
(Mus musculus)
Mammalia Atp13a4 34 16 35
  • 85.71 (n)
rat
(Rattus norvegicus)
Mammalia Atp13a4 34
  • 85.46 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP13A4 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ATP13A4 34 35
  • 68.39 (n)
lizard
(Anolis carolinensis)
Reptilia ATP13A4 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp13a4 34
  • 65.28 (n)
Str.15658 34
zebrafish
(Danio rerio)
Actinopterygii CU694233.1 35
  • 34 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32000 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea catp-7 35
  • 34 (a)
ManyToMany
catp-5 35
  • 32 (a)
ManyToMany
catp-6 35
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPK9 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3249 34
Species where no ortholog for ATP13A4 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)
  • 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
rs1017971 -- 193,474,793(+) aAGGA(A/G)TACAT intron-variant
rs1017972 -- 193,475,006(+) tattg(G/T)caagg intron-variant
rs10439973 -- 193,401,516(+) GGCCA(G/T)GTGAC utr-variant-3-prime
rs10446356 -- 193,416,970(+) aagca(A/G)tgagg intron-variant, utr-variant-3-prime
rs10470361 -- 193,556,849(+) TTATA(C/T)ATTTA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv956257 CNV deletion 24416366
nsv592942 CNV loss 21841781
nsv526405 CNV loss 19592680
nsv499028 CNV loss 21111241
nsv437908 CNV loss 16468122
nsv435748 CNV deletion 17901297
nsv4175 CNV deletion 18451855
nsv249 CNV deletion 15895083
nsv1139189 CNV deletion 24896259
nsv1136795 CNV deletion 24896259
nsv1009030 CNV loss 25217958
nsv1003505 CNV gain 25217958
esv7599 CNV loss 19470904
esv4085 CNV loss 18987735
esv3893849 CNV loss 25118596
esv3599186 CNV loss 21293372
esv3599185 CNV gain 21293372
esv3599184 CNV loss 21293372
esv3569204 CNV loss 25503493
esv3563121 CNV deletion 23714750
esv3563120 CNV deletion 23714750
esv2759212 CNV gain 17122850
esv2726426 CNV deletion 23290073
esv2726425 CNV deletion 23290073
esv2675964 CNV deletion 23128226
esv2665959 CNV deletion 23128226
esv2662072 CNV deletion 23128226
esv26041 CNV loss 19812545
esv2421348 CNV deletion 20811451
dgv8819n54 CNV loss 21841781
dgv8818n54 CNV loss 21841781
dgv8817n54 CNV loss 21841781
dgv8816n54 CNV loss 21841781
dgv309n21 CNV loss 19592680

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

Human Gene Mutation Database (HGMD)
ATP13A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
centrotemporal epilepsy
  • benign epilepsy with centrotemporal spikes
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. 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 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 64
  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 64
  4. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4 64

Products for ATP13A4 Gene

Sources for ATP13A4 Gene

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