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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
  • Manganese-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. GO annotations related to this gene include 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

Genomic Location for ATP13A1 Gene

Start:
19,645,198 bp from pter
End:
19,663,703 bp from pter
Size:
18,506 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 Lys143, Lys187, and Lys308
  • Glycosylation at Asn287 and Asn420
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP13A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for ATP13A1 Gene

Gene Families for ATP13A1 Gene

HGNC:
  • PATP :ATPases / P-type

Graphical View of Domain Structure for InterPro Entry

Q9HD20

UniProtKB/Swiss-Prot:

AT131_HUMAN :
  • Q9HD20
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 IEA --
GO:0019829 cation-transporting ATPase activity --
genes like me logo Genes that share ontologies with ATP13A1: view

miRNA for ATP13A1 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
plasma membrane 3
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for ATP13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP13A1: view

Pathways for ATP13A1 Gene

SuperPathways for ATP13A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATP13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006812 cation transport IEA --
GO:0008150 biological_process ND --
GO:0008152 metabolic process IEA --
GO:0098655 cation transmembrane transport --
genes like me logo Genes that share ontologies with ATP13A1: view

No data available for Pathways by source for ATP13A1 Gene

Compounds for ATP13A1 Gene

(1) Novoseek inferred chemical compound relationships for ATP13A1 Gene

Compound -log(P) Hits PubMed IDs
calcium 23.2 2
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:

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

Integrated Proteomics: protein expression 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 expressions with ATP13A1: view

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 35
  • 99.5 (n)
  • 99.75 (a)
ATP13A1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ATP13A1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP13A1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp13a1 35
  • 88.11 (n)
  • 95.23 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.15056 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp13a1 35
  • 70.23 (n)
  • 78.8 (a)
Str.4425 35
zebrafish
(Danio rerio)
Actinopterygii atp13a 35
  • 71.06 (n)
  • 77.45 (a)
atp13a 36
  • 72 (a)
OneToOne
wufi75c10 35
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 catp-8 36
  • 53 (a)
OneToOne
CELE_C10C6.6 35
  • 53.53 (n)
  • 55.47 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR354C 35
  • 50.64 (n)
  • 44.14 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPF1 35
  • 47.33 (n)
  • 43.77 (a)
SPF1 36
  • 39 (a)
OneToOne
SPF1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22265g 35
  • 48.85 (n)
  • 44.25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PDR2 35
  • 51.34 (n)
  • 46.64 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.12085 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 intestinalis)
Ascidiacea Cin.15535 35
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

Selected 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

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

(1) University of Copenhagen DISEASES for ATP13A1 Gene

Relevant External Links for ATP13A1

Genetic Association Database (GAD)
ATP13A1
Human Genome Epidemiology (HuGE) Navigator
ATP13A1
genes like me logo Genes that share disorders with ATP13A1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. 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
  5. 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 48

Products for ATP13A1 Gene

  • antibodies-online peptides for ATP13A1
  • antibodies-online antibodies for ATP13A1
  • antibodies-online kits for ATP13A1

Sources for ATP13A1 Gene

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