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Aliases for ATP13A5 Gene

Aliases for ATP13A5 Gene

  • ATPase 13A5 2 3 5
  • ATPase Type 13A5 2 3
  • Probable Cation-Transporting ATPase 13A5 3
  • P5-ATPase Isoform 5 4
  • EC 3.6.3.12 56
  • EC 3.6.3.n1 56
  • EC 3.6.3.8 56
  • EC 3.6.3.- 4
  • P5-ATPase 3
  • EC 3.6.3 56

External Ids for ATP13A5 Gene

Previous GeneCards Identifiers for ATP13A5 Gene

  • GC03U900579
  • GC03M194476
  • GC03M192992
  • GC03M190379

Summaries for ATP13A5 Gene

Entrez Gene Summary for ATP13A5 Gene

  • This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017]

GeneCards Summary for ATP13A5 Gene

ATP13A5 (ATPase 13A5) is a Protein Coding gene. Diseases associated with ATP13A5 include Kufor-Rakeb Syndrome and Juvenile-Onset Parkinson Disease. Among its related pathways are Ion channel transport and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP13A4.

Additional gene information for ATP13A5 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP13A5 Gene

Genomics for ATP13A5 Gene

GeneHancer (GH) Regulatory Elements for ATP13A5 Gene

Promoters and enhancers for ATP13A5 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
GH03I193378 Promoter 0.5 EPDnew 550.8 +0.1 70 0.1 ATP13A5 GC03M193345
GH03I193347 Enhancer 0.5 ENCODE 16.9 +30.4 30377 1.3 MXI1 RFX1 POLR2A BATF RUNX3 GC03M193345 ATP13A5 ATP13A5-AS1 HRASLS
GH03I193392 Enhancer 0.5 ENCODE 0.4 -13.3 -13264 0.2 STAT1 ZNF687 FOS ZIC2 WT1 HRASLS VEZF1P1 ATP13A5 ATP13A4-AS1
GH03I193301 Enhancer 0.5 ENCODE 0.2 +77.2 77196 0.2 JUND JUN ZNF629 FOS ATP13A5-AS1 MGC2889 ATP13A5
GH03I193388 Enhancer 0.2 ENCODE 0.4 -10.5 -10508 0.7 HRASLS ATP13A5 ATP13A4-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP13A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP13A5 gene promoter:

Genomic Locations for ATP13A5 Gene

Genomic Locations for ATP13A5 Gene
chr3:193,274,789-193,378,843
(GRCh38/hg38)
Size:
104,055 bases
Orientation:
Minus strand
chr3:192,992,579-193,096,632
(GRCh37/hg19)

Genomic View for ATP13A5 Gene

Genes around ATP13A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP13A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP13A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP13A5 Gene

Proteins for ATP13A5 Gene

  • Protein details for ATP13A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4VNC0-AT135_HUMAN
    Recommended name:
    Probable cation-transporting ATPase 13A5
    Protein Accession:
    Q4VNC0
    Secondary Accessions:
    • Q6UWS4
    • Q6ZWL0

    Protein attributes for ATP13A5 Gene

    Size:
    1218 amino acids
    Molecular mass:
    137327 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ89030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ89030.1; Type=Frameshift; Positions=1126, 1135; Evidence={ECO:0000305}; Sequence=BAC85490.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Cloning artifact.; Evidence={ECO:0000305};

neXtProt entry for ATP13A5 Gene

Selected DME Specific Peptides for ATP13A5 Gene

Q4VNC0:
  • FARMSPGQKSSL
  • TVMITGDN
  • TGESIPV
  • DKTGTLT
  • VQKIRYVW
  • MLTGESIPV
  • PCDAVLI
  • QGFRVIALA
  • TGDNLQTA
  • NTAKGDLVRSILYP
  • LLRTTDEF
  • VGMCGDGANDCGALK
  • SPPLLLS
  • HVLFCGTEVIQ

Post-translational modifications for ATP13A5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP13A5 Gene

Domains & Families for ATP13A5 Gene

Gene Families for ATP13A5 Gene

Suggested Antigen Peptide Sequences for ATP13A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4VNC0

UniProtKB/Swiss-Prot:

AT135_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 ATP13A5: view

Function for ATP13A5 Gene

Molecular function for ATP13A5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

Enzyme Numbers (IUBMB) for ATP13A5 Gene

Phenotypes From GWAS Catalog for ATP13A5 Gene

Gene Ontology (GO) - Molecular Function for ATP13A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IBA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IEA --
GO:0019829 cation-transporting ATPase activity TAS --
genes like me logo Genes that share ontologies with ATP13A5: view
genes like me logo Genes that share phenotypes with ATP13A5: view

Animal Models for ATP13A5 Gene

MGI Knock Outs for ATP13A5:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP13A5

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ATP13A5 Gene

Localization for ATP13A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP13A5 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 ATP13A5 gene
Compartment Confidence
plasma membrane 5
lysosome 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for ATP13A5 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 ATP13A5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP13A5 Gene

Pathways & Interactions for ATP13A5 Gene

genes like me logo Genes that share pathways with ATP13A5: view

Pathways by source for ATP13A5 Gene

Interacting Proteins for ATP13A5 Gene

Gene Ontology (GO) - Biological Process for ATP13A5 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:0070588 calcium ion transmembrane transport IEA --
GO:0099132 ATP hydrolysis coupled cation transmembrane transport IEA --
genes like me logo Genes that share ontologies with ATP13A5: view

No data available for SIGNOR curated interactions for ATP13A5 Gene

Drugs & Compounds for ATP13A5 Gene

(3) Drugs for ATP13A5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for ATP13A5 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 ATP13A5: view

Transcripts for ATP13A5 Gene

mRNA/cDNA for ATP13A5 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP13A5 Gene

ATPase type 13A5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A5 Gene

No ASD Table

Relevant External Links for ATP13A5 Gene

GeneLoc Exon Structure for
ATP13A5
ECgene alternative splicing isoforms for
ATP13A5

Expression for ATP13A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP13A5 Gene

mRNA differential expression in normal tissues according to GTEx for ATP13A5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x7.2), Skin - Not Sun Exposed (Suprapubic) (x4.2), and Minor Salivary Gland (x4.0).

Protein differential expression in normal tissues from HIPED for ATP13A5 Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATP13A5 Gene



Protein tissue co-expression partners for ATP13A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP13A5 Gene:

ATP13A5

SOURCE GeneReport for Unigene cluster for ATP13A5 Gene:

Hs.658032

Evidence on tissue expression from TISSUES for ATP13A5 Gene

  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with ATP13A5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP13A5 Gene

Orthologs for ATP13A5 Gene

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

Orthologs for ATP13A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP13A5 33 34
  • 98.28 (n)
dog
(Canis familiaris)
Mammalia ATP13A5 33
  • 88.19 (n)
-- 34
  • 79 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia ATP13A5 33 34
  • 87.42 (n)
rat
(Rattus norvegicus)
Mammalia Atp13a5 33
  • 84.61 (n)
mouse
(Mus musculus)
Mammalia Atp13a5 33 16 34
  • 83.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP13A5 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP13A5 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP13A5 33 34
  • 66.86 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp13a5 33
  • 60.49 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01111936.1 34
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32000 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea catp-7 34
  • 34 (a)
ManyToMany
catp-6 34
  • 32 (a)
ManyToMany
catp-5 34
  • 31 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPK9 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for ATP13A5 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 ATP13A5 Gene

ENSEMBL:
Gene Tree for ATP13A5 (if available)
TreeFam:
Gene Tree for ATP13A5 (if available)

Paralogs for ATP13A5 Gene

Paralogs for ATP13A5 Gene

(3) SIMAP similar genes for ATP13A5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATP13A5: view

Variants for ATP13A5 Gene

Sequence variations from dbSNP and Humsavar for ATP13A5 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs74437357 likely-benign, not specified 193,334,980(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, stop_gained
rs1000067833 -- 193,296,895(-) A/G intron_variant
rs1000078886 -- 193,296,610(-) A/G/T intron_variant
rs1000088605 -- 193,303,665(-) G/A intron_variant
rs1000096110 -- 193,277,584(-) C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP13A5 Gene

Variant ID Type Subtype PubMed ID
esv1179184 CNV insertion 17803354
esv2658671 CNV deletion 23128226
esv3599183 CNV loss 21293372
nsv1003505 CNV gain 25217958
nsv1109572 CNV deletion 24896259
nsv471963 CNV novel sequence insertion 20440878
nsv478239 CNV novel sequence insertion 20440878

Variation tolerance for ATP13A5 Gene

Residual Variation Intolerance Score: 82.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.04; 99.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP13A5 Gene

Human Gene Mutation Database (HGMD)
ATP13A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP13A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP13A5 Gene

Disorders for ATP13A5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP13A5 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP13A5

genes like me logo Genes that share disorders with ATP13A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP13A5 Gene

Publications for ATP13A5 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 DA … Scherer SW (Genomics 2005) 3 4 58
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  3. P-type ATPases. (PMID: 21351879) Palmgren MG … Nissen P (Annual review of biophysics 2011) 3 58
  4. Structural divergence between the two subgroups of P5 ATPases. (PMID: 20416272) Sørensen DM … Palmgren MG (Biochimica et biophysica acta 2010) 3 58
  5. Phylogenetic analysis of P5 P-type ATPases, a eukaryotic lineage of secretory pathway pumps. (PMID: 18155930) Møller AB … Palmgren MG (Molecular phylogenetics and evolution 2008) 3 58

Products for ATP13A5 Gene

Sources for ATP13A5 Gene

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