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, gl... See more...

Aliases for ATP13A5 Gene

Aliases for ATP13A5 Gene

  • ATPase 13A5 2 3 5
  • Probable Cation-Transporting ATPase 13A5 3 4
  • ATPase Type 13A5 2 3
  • P5-ATPase Isoform 5 4
  • EC 3.6.3.12 51
  • EC 3.6.3.n1 51
  • EC 3.6.3.8 51
  • EC 7.2.2.- 4
  • P5-ATPase 3
  • FLJ16025 2
  • EC 3.6.3 51
  • ATP13A5 5

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 Benign Chronic Pemphigus and Cone-Rod Dystrophy, X-Linked, 1. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP13A5 Gene

Genomics for ATP13A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH03J193378 Promoter/Enhancer 0.5 EPDnew Ensembl 605.8 +0.4 419 1.6 ATP13A5 lnc-ATP13A4-6 PLAAT1
GH03J193347 Enhancer 0.7 Ensembl ENCODE 17 +30.7 30719 3.8 RFX1 POLR2A RAD21 RUNX3 BATF TCF7 POU5F1 ATP13A5 PLAAT1 ATP13A5-AS1 lnc-ATP13A4-6
GH03J193207 Enhancer 0.5 Ensembl 10.1 +170.9 170919 0.6 ESR1 CEBPB GABPA FEZF1 GLIS1 SMARCA4 ZNF680 PLAAT1 VEZF1P1 ATP13A5 MGC2889 piR-40497-037 MB21D2
GH03J193407 Enhancer 0.3 Ensembl 11.3 -29.2 -29181 1.6 TEAD4 SMARCA4 ATP13A5 piR-46847-163 HSALNG0031646 ATP13A4
GH03J193350 Enhancer 0.2 Ensembl 11.4 +27.9 27919 0.6 ATP13A5 lnc-ATP13A4-6 PLAAT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP13A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP13A5

Top Transcription factor binding sites by QIAGEN in the ATP13A5 gene promoter:
  • AML1a
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HSF2
  • LCR-F1
  • POU2F1
  • POU2F1a
  • TGIF

Genomic Locations for ATP13A5 Gene

Genomic Locations for ATP13A5 Gene
chr3:193,274,789-193,378,820
(GRCh38/hg38)
Size:
104,032 bases
Orientation:
Minus strand
chr3:192,992,579-193,096,632
(GRCh37/hg19)
Size:
104,054 bases
Orientation:
Minus strand

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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAQ89030.1; Type=Frameshift; 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

  • Glycosylation at Asn540, Asn669, and Asn819
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP13A5 Gene

Domains & Families for ATP13A5 Gene

Gene Families for ATP13A5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ATP13A5 Gene

GenScript: Design optimal peptide antigens:
  • P5-ATPase isoform 5 (AT135_HUMAN)

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:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216;.

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:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0046872 metal ion binding IEA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP13A5

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
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP13A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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 21873635
GO:0034220 ion transmembrane transport TAS --
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, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for ATP13A5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with ATP13A5: view

Transcripts for ATP13A5 Gene

mRNA/cDNA for ATP13A5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP13A5

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

No ASD Table

Relevant External Links for ATP13A5 Gene

GeneLoc Exon Structure for
ATP13A5

Expression for ATP13A5 Gene

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



Protein tissue co-expression partners for ATP13A5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP13A5

SOURCE GeneReport for Unigene cluster for ATP13A5 Gene:

Hs.658032

Evidence on tissue expression from TISSUES for ATP13A5 Gene

  • Nervous system(2.8)
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 30 31
  • 98.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP13A5 30
  • 88.19 (n)
-- 31
  • 79 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia ATP13A5 30 31
  • 87.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp13a5 30
  • 84.61 (n)
Mouse
(Mus musculus)
Mammalia Atp13a5 30 17 31
  • 83.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP13A5 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP13A5 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP13A5 30 31
  • 66.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 64 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp13a5 30
  • 60.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01111936.1 31
  • 41 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG32000 31
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea catp-7 31
  • 34 (a)
ManyToMany
catp-6 31
  • 32 (a)
ManyToMany
catp-5 31
  • 31 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPK9 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for ATP13A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP13A5: view image

Paralogs for ATP13A5 Gene

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

  • AT135_HUMAN
  • C9JPQ4_HUMAN
genes like me logo Genes that share paralogs with ATP13A5: view

Variants for ATP13A5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP13A5 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
783316 Benign: not provided 193,275,045(-) CA/C FRAMESHIFT_VARIANT
791964 Benign: not provided 193,363,248(-) C/T SYNONYMOUS_VARIANT
rs74437357 Likely Benign: not specified 193,334,980(-) G/A NONSENSE
rs12637558 - p.Ser96Tyr
rs2271791 - p.Val1131Ala

Additional dbSNP identifiers (rs#s) for ATP13A5 Gene

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

(4) MalaCards diseases for ATP13A5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
benign chronic pemphigus
  • bcpm
cone-rod dystrophy, x-linked, 1
  • cordx1
dicarboxylic aminoaciduria
  • dcbxa
hydranencephaly
  • hydroanencephaly
- 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
  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
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. P-type ATPases. (PMID: 21351879) Palmgren MG … Nissen P (Annual review of biophysics 2011) 3
  5. Structural divergence between the two subgroups of P5 ATPases. (PMID: 20416272) Sørensen DM … Palmgren MG (Biochimica et biophysica acta 2010) 3

Products for ATP13A5 Gene

Sources for ATP13A5 Gene