Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP13A1 Gene

Aliases for ATP13A1 Gene

  • ATPase 13A1 2 3 5
  • Cation Transporting ATPase 2 3
  • ATPase Type 13A1 2 3
  • ATP13A 3 4
  • Probable Cation-Transporting ATPase 13A1 3
  • Manganese-Transporting ATPase 13A1 3
  • ATPase Type 13A 2
  • EC 3.6.3.12 61
  • EC 3.6.3.- 4
  • KIAA1825 4
  • EC 3.6.3 61
  • 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 13A1) is a Protein Coding gene. 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.

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

Enhancers for ATP13A1 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
GH19F019594 1.6 FANTOM5 Ensembl ENCODE 17.6 +68.9 68894 9.1 HDGF PKNOX1 ATF1 YY1 CBX5 ELK1 ZNF548 JUNB TBX21 PBX2 LPAR2 GATAD2A ATP13A1 GMIP ZNF90 UPF1 PBX4 NDUFA13 RFXANK ZNF14
GH19F019589 1.5 FANTOM5 Ensembl ENCODE 11.8 +76.5 76531 3.2 HDGF PKNOX1 ZNF146 WRNIP1 JUN MAX EBF1 RELA RFX5 POLR2A GATAD2A PBX4 GMIP LPAR2 ATP13A1 RFXANK ZNF14 MAU2 ZNF506 PHF5CP
GH19F019605 1 Ensembl ENCODE 13.4 +61.3 61333 2.0 PKNOX1 JUN MAX SIN3A RAD21 GATA3 CTBP1 ZBTB48 POLR2A FOS LPAR2 GMIP ATP13A1 GATAD2A ENSG00000259242 PBX4
GH19F019774 1.1 ENCODE 11.2 -108.3 -108327 3.1 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 KLF13 LINC00663 ENSG00000267419 ZNF506 ZNF14 ATP13A1 ZNF101 ENSG00000267693
GH19F019899 1 ENCODE 11.1 -233.3 -233336 3.0 ATF1 PKNOX1 SIN3A ZNF2 YY1 GTF3C2 ELK1 FOS YY2 NFYC ZNF93 ZNF506 ZNF66 ZNF90 ZNF101 ATP13A1 LOC101928960 BNIP3P24 ENSG00000267268 LOC102724360
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP13A1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP13A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001418408 -1377 2401 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 FOS CEBPZ

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

Genes around ATP13A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP13A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for ATP13A1 Gene

Q9HD20:
  • DKTGTLT
  • TLVTTLQMFKIL
  • FVFQVFCV
  • TGDNPLTA

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:0003674 molecular_function ND --
GO:0005524 ATP binding IEA --
GO:0015410 manganese-transporting ATPase activity TAS --
GO:0016787 hydrolase activity IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ATP13A1: view
genes like me logo Genes that share phenotypes with ATP13A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP13A1

miRNA for ATP13A1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , 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
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 ATP13A1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for ATP13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
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 IEA --
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:0006810 transport IEA --
GO:0006812 cation transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA --
GO:0008150 biological_process ND --
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

(4) Drugs for ATP13A1 Gene - From: HMDB and Novoseek

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 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
Full agonist, Agonist 58-64-0
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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP13A1 Gene



Protein tissue co-expression partners for ATP13A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP13A1 Gene:

ATP13A1

SOURCE GeneReport for Unigene cluster for ATP13A1 Gene:

Hs.501794
genes like me logo Genes that share expression patterns with ATP13A1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ATP13A1 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia ATP13A1 34 35
  • 90.65 (n)
cow
(Bos Taurus)
Mammalia ATP13A1 34 35
  • 90.46 (n)
mouse
(Mus musculus)
Mammalia Atp13a1 34 16 35
  • 88.5 (n)
rat
(Rattus norvegicus)
Mammalia Atp13a1 34
  • 88.11 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP13A1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP13A1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP13A1 34 35
  • 75.37 (n)
lizard
(Anolis carolinensis)
Reptilia ATP13A1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp13a1 34
  • 70.23 (n)
Str.4425 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15056 34
zebrafish
(Danio rerio)
Actinopterygii atp13a 34 35
  • 71.06 (n)
wufi75c10 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008085 34
  • 60.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6230 34 35
  • 58.29 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C10C6.6 34
  • 53.53 (n)
catp-8 35
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR354C 34
  • 50.64 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22265g 34
  • 48.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPF1 34 35 37
  • 47.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PDR2 34
  • 51.34 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.12085 34
bread mold
(Neurospora crassa)
Ascomycetes NCU04898 34
  • 55.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cta4 34
  • 46.95 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15535 34
Species where no ortholog for ATP13A1 was found in the sources mined by GeneCards:
  • 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
rs10403579 -- 19,659,520(+) GCCTC(C/T)GTCCC intron-variant
rs10405234 -- 19,645,853(+) ATGTT(C/T)GGGCA intron-variant
rs10415278 -- 19,658,348(+) CCCCA(A/C)TGCTA intron-variant
rs10417140 -- 19,661,688(+) TCGTT(C/T)AGTGC intron-variant
rs10423311 -- 19,646,453(+) GTGTA(C/G)AGCCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3643853 CNV gain 21293372
nsv1160593 CNV deletion 26073780
nsv509725 CNV insertion 20534489
nsv952427 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for ATP13A1 Gene.

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

Publications for ATP13A1 Gene

  1. 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 3 4 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ATP13A1 Gene

Sources for ATP13A1 Gene

Content
Loading form....