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Aliases for ATP13A1 Gene

Aliases for ATP13A1 Gene

  • ATPase Type 13A1 2 3
  • Cation Transporting ATPase 2 3
  • ATP13A 3 4
  • Probable Cation-Transporting ATPase 13A1 3
  • ATPase Type 13A 2
  • EC 3.6.3.12 63
  • EC 3.6.3.- 4
  • KIAA1825 4
  • EC 3.6.3 63
  • CGI-152 3

External Ids for ATP13A1 Gene

Previous HGNC Symbols for ATP13A1 Gene

  • ATP13A

Previous GeneCards Identifiers for ATP13A1 Gene

  • GC19M019620
  • GC19M019758
  • GC19M019318

Summaries for ATP13A1 Gene

GeneCards Summary for ATP13A1 Gene

ATP13A1 (ATPase Type 13A1) is a Protein Coding gene. 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. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity.

UniProtKB/Swiss-Prot for ATP13A1 Gene

  • Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP13A1 Gene

Genomics for ATP13A1 Gene

Regulatory Elements for ATP13A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP13A1 Gene

Chromosome:
19
Start:
19,645,198 bp from pter
End:
19,667,823 bp from pter
Size:
22,626 bases
Orientation:
Minus strand

Genomic View for ATP13A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP13A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP13A1 Gene

Proteins for ATP13A1 Gene

  • Protein details for ATP13A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD20-AT131_HUMAN
    Recommended name:
    Manganese-transporting ATPase 13A1
    Protein Accession:
    Q9HD20
    Secondary Accessions:
    • B3KPJ2
    • B3KTA7
    • Q6NT90
    • Q6ZMG7
    • Q9H6C6

    Protein attributes for ATP13A1 Gene

    Size:
    1204 amino acids
    Molecular mass:
    132955 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Depletion of ATP13A1 with siRNAs leads to induction of the unfolded protein response (UPR) and increased activity of glucosylceramide synthase (GlcCer)
    SequenceCaution:
    • Sequence=AAH69211.1; Type=Frameshift; Positions=846; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP13A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP13A1 Gene

Proteomics data for ATP13A1 Gene at MOPED

Selected DME Specific Peptides for ATP13A1 Gene

Post-translational modifications for ATP13A1 Gene

  • Ubiquitination at Lys 143, Lys 187, and Lys 308
  • Glycosylation at Asn 287 and Asn 420
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP13A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP13A1 Gene

Gene Families for ATP13A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HD20

UniProtKB/Swiss-Prot:

AT131_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 ATP13A1: view

Function for ATP13A1 Gene

Molecular function for ATP13A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function:
Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis.

Enzyme Numbers (IUBMB) for ATP13A1 Gene

Gene Ontology (GO) - Molecular Function for ATP13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0003674 molecular_function ND --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity --
GO:0019829 cation-transporting ATPase activity IBA --
genes like me logo Genes that share ontologies with ATP13A1: view

Phenotypes for ATP13A1 Gene

genes like me logo Genes that share phenotypes with ATP13A1: view

Animal Model Products

CRISPR Products

miRNA for ATP13A1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP13A1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ATP13A1 Gene

Localization for ATP13A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP13A1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP13A1 Gene COMPARTMENTS Subcellular localization image for ATP13A1 gene
Compartment Confidence
endoplasmic reticulum 3
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ATP13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with ATP13A1: view

Pathways & Interactions for ATP13A1 Gene

genes like me logo Genes that share pathways with ATP13A1: view

Pathways by source for ATP13A1 Gene

Gene Ontology (GO) - Biological Process for ATP13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006812 cation transport --
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0008150 biological_process ND --
GO:0008152 metabolic process IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP13A1: view

No data available for SIGNOR curated interactions for ATP13A1 Gene

Drugs & Compounds for ATP13A1 Gene

(2) Drugs for ATP13A1 Gene - From: HMDB and NovoSeek

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

(3) Additional Compounds for ATP13A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 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 ATP13A1: view

Transcripts for ATP13A1 Gene

Unigene Clusters for ATP13A1 Gene

ATPase type 13A1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP13A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - - -
SP2: - -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8: - - -
SP9:
SP10:
SP11:
SP12:
SP13: - - -
SP14: - -
SP15:
SP16:

ExUns: 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16: -

Relevant External Links for ATP13A1 Gene

GeneLoc Exon Structure for
ATP13A1
ECgene alternative splicing isoforms for
ATP13A1

Expression for ATP13A1 Gene

mRNA expression in normal human tissues for ATP13A1 Gene

Protein differential expression in normal tissues from HIPED for ATP13A1 Gene

This gene is overexpressed in Nasal epithelium (37.8) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP13A1 Gene



SOURCE GeneReport for Unigene cluster for ATP13A1 Gene Hs.501794

genes like me logo Genes that share expression patterns with ATP13A1: view

Protein tissue co-expression partners for ATP13A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP13A1 Gene

Orthologs for ATP13A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP13A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP13A1 35
  • 90.46 (n)
  • 95.08 (a)
ATP13A1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP13A1 35
  • 90.65 (n)
  • 96.41 (a)
ATP13A1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp13a1 35
  • 88.5 (n)
  • 95.32 (a)
Atp13a1 16
Atp13a1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP13A1 35
  • 99.5 (n)
  • 99.75 (a)
ATP13A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp13a1 35
  • 88.11 (n)
  • 95.23 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP13A1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP13A1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP13A1 35
  • 75.37 (n)
  • 80.98 (a)
ATP13A1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP13A1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp13a1 35
  • 70.23 (n)
  • 78.8 (a)
Str.4425 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15056 35
zebrafish
(Danio rerio)
Actinopterygii atp13a 35
  • 71.06 (n)
  • 77.45 (a)
wufi75c10 35
atp13a 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008085 35
  • 60.84 (n)
  • 56.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6230 35
  • 58.29 (n)
  • 55.17 (a)
CG6230 36
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_C10C6.6 35
  • 53.53 (n)
  • 55.47 (a)
catp-8 36
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR354C 35
  • 50.64 (n)
  • 44.14 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22265g 35
  • 48.85 (n)
  • 44.25 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPF1 35
  • 47.33 (n)
  • 43.77 (a)
SPF1 36
  • 39 (a)
OneToOne
SPF1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PDR2 35
  • 51.34 (n)
  • 46.64 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.12085 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15535 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04898 35
  • 55.57 (n)
  • 47.12 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cta4 35
  • 46.95 (n)
  • 43.9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToOne
Species with no ortholog for ATP13A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP13A1 Gene

ENSEMBL:
Gene Tree for ATP13A1 (if available)
TreeFam:
Gene Tree for ATP13A1 (if available)

Paralogs for ATP13A1 Gene

(2) SIMAP similar genes for ATP13A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATP13A1: view

No data available for Paralogs for ATP13A1 Gene

Variants for ATP13A1 Gene

Sequence variations from dbSNP and Humsavar for ATP13A1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs867616 -- 19,646,873(+) CCTTG(C/T)TTGTG intron-variant
rs884480 -- 19,663,114(-) TTAAT(C/T)ATGAC intron-variant
rs892035 -- 19,647,381(+) GGGAA(C/T)GAAGG intron-variant
rs892036 -- 19,654,460(+) AAGAT(C/G)CTCTG intron-variant
rs919778 -- 19,661,913(+) TATAC(A/G)CTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP13A1 Gene

Variant ID Type Subtype PubMed ID
nsv509725 CNV Insertion 20534489
nsv911309 CNV Loss 21882294
nsv911310 CNV Loss 21882294

Variation tolerance for ATP13A1 Gene

Residual Variation Intolerance Score: 1.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP13A1 Gene

HapMap Linkage Disequilibrium report
ATP13A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP13A1 Gene

Disorders for ATP13A1 Gene

Relevant External Links for ATP13A1

Genetic Association Database (GAD)
ATP13A1
Human Genome Epidemiology (HuGE) Navigator
ATP13A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP13A1
genes like me logo Genes that share disorders with ATP13A1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP13A1 Gene

Publications for ATP13A1 Gene

  1. Identification of Porphyromonas gingivalis genes specifically expressed in human gingival epithelial cells by using differential display reverse transcription-PCR. (PMID: 15213115) Park Y. … Lamont R.J. (Infect. Immun. 2004) 23 67
  2. TRASH: a novel metal-binding domain predicted to be involved in heavy-metal sensing, trafficking and resistance. (PMID: 12713899) Ettema T.J. … van der Oost J. (Trends Biochem. Sci. 2003) 23 67
  3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 67
  4. [Reversible phosphorylation of catalytic subunit of monovalent cation-transporting ATPases by protein kinases and phosphatases]. (PMID: 10391985) Kaya S. (Seikagaku 1999) 23 67
  5. The energy transduction mechanism is different among P-type ion-transporting ATPases. Acetyl phosphate causes uncoupling between hydrolysis and ion transport in H+,K(+)-ATPase. (PMID: 1313014) Asano S. … Takeguchi N. (J. Biol. Chem. 1992) 23 67

Products for ATP13A1 Gene

Sources for ATP13A1 Gene

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