ATP13A4 Gene
protein-coding GIFtS: 51
GCID: GC03M193119
|
|
ATPase type 13A4
| |
Aliases
for ATP13A4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATPase Type 13A41 2 | | EC 3.6.3.-3 | | DKFZp761I10111 | | P5-ATPase Isoform 43 | | FLJ379581 | | EC 3.6.38 | | P5-ATPase2 | | EC 3.6.3.128 | | Cation-Transporting P5-ATPase2 | | EC 3.6.3.88 | | Probable Cation-Transporting ATPase 13A42 | | EC 3.6.3.N11 |
Export aliases for ATP13A4 gene to outside databasesPrevious GC identifers: GC03M194603 GC03M190507 |
Summaries
for ATP13A4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for ATP13A4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATP13A4 gene promoter:
CREB deltaCREB
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATP13A4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP13A4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q29 Ensembl cytogenetic band: 3q29 HGNC cytogenetic band: 3q29ATP13A4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M193119: view genomic region
(about GC identifiers)
Start:
|
193,119,866 bp from pter |
End:
|
193,310,900 bp from pter |
Size:
|
191,035 bases |
Orientation:
|
minus strand |
|
Proteins
for ATP13A4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AT134_HUMAN, Q4VNC1 (See
protein sequence)Recommended Name: Probable cation-transporting ATPase 13A4 Size: 1196 amino acids; 133987 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=CAC21667.2; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: B7WPC7 Q6UY23 Q8N1Q9 Q9H043Alternative splicing: 4 isoforms: Q4VNC1-1 Q4VNC1-2 Q4VNC1-3 Q4VNC1-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATP13A4: NX_Q4VNC1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q4VNC1
4/19 DME Specific Peptides for ATP13A4 (Q4VNC1) (see all 19)
ATP13A4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115655.2
ENSEMBL proteins: ENSP00000383129 ENSP00000395367 ENSP00000402023 ENSP00000376238 ENSP00000339182 ENSP00000401481 ENSP00000295548
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
ATP13A4 for ontologies About GeneDecksing
ATP13A4 Antibody Products:
Assay Products for ATP13A4: |
Protein
Domains /
Families
for ATP13A4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATP13A4 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q4VNC1ProtoNet protein and cluster: Q4VNC1 1 Blocks protein family: IPB008250 E1-E2 ATPase-associated region
UniProtKB/Swiss-Prot: AT134_HUMAN, Q4VNC1Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily |
Function
for ATP13A4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AT134_HUMAN, Q4VNC1Catalytic activity: ATP + H(2)O = ADP + phosphateInduction: Decreased by half in the SLI patient lymphoblastsEnzyme Numbers (IUBMB): EC 3.6.3.82 EC 3.6.3.n12 EC 3.6.3.122 EC 3.6.32 EC 3.6.3.-1
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for ATP13A4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP13A4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP13A4 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005524 | ATP binding |
IEA | -- | | GO:0015662 | ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism |
IEA | -- | | GO:0046872 | metal ion binding |
IEA | -- |
ATP13A4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ATP13A4:
|
Pathways & Interactions
for ATP13A4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP13A4
1 Interacting protein for ATP13A4 (Q4VNC13) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006754 | ATP biosynthetic process |
IEA | -- | | GO:0006812 | cation transport |
IEA | -- |
ATP13A4 for ontologies About GeneDecksing
|
Drugs & Compounds
for ATP13A4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ATP13A4
Search CenterWatch for drugs/clinical trials and news about ATP13A4 / AT134
|
Transcripts
for ATP13A4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATP13A4 gene: NM_032279.2 Unigene Cluster for ATP13A4: ATPase type 13A4 Hs.674423 [show with all ESTs]Unigene Representative Sequence: NM_03227911 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000400270 ENST00000428352(uc010hzi.3) ENST00000450950 ENST00000392443
ENST00000342695(uc003ftd.3) ENST00000482964 ENST00000474776 ENST00000437904
ENST00000490925(uc003fte.1 uc011bsr.1) ENST00000295548(uc003ftf.4)
ENST00000489140
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A4 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ATP13A4 (NM_032279) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP13A4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP13A4 |
Additional cDNA sequence: AK095277.1 AK096510.1 AL512736.1 AY358110.1 AY823162.1 BC101496.1 BC143604.1 6 DOTS entries: DT.92017995 DT.100009059 DT.101956656 DT.120843981 DT.86849008 DT.120843982 19 AceView cDNA sequences: AY358110 NM_032279 AK095277 BX505349 AL512736 AV749904 BG221277 BG187059 AK096510 BG059633 BM956072 BG213525 BG218307 BG207778 BF362216 BE169749 AV724234 BF846745 BF849347
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A4 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b |
|---|
|
| SP1: | | | | | | | - | | - | | | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | - | | | | - | | - | | | | | | | | | | | | - | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ATP13A4
|
Expression
for ATP13A4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATP13A4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ATP13A4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP13A4
SOURCE GeneReport for Unigene cluster: Hs.674423
UniProtKB/Swiss-Prot: AT134_HUMAN, Q4VNC1Tissue specificity: Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression arealso detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher thanin adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adultbrain expressed at low levels in all tissues examined, including the temporal lobe and putamen
SABiosciences Custom PCR Arrays for ATP13A4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP13A4
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP13A4 |
Orthologs
for ATP13A4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for ATP13A4 gene from 6/24 species (see all 24) About this table
ENSEMBL Gene Tree for ATP13A4 (if available)
TreeFam Gene Tree for ATP13A4 (if available) |
Paralogs
for ATP13A4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATP13A4 gene
- ATP13A32 ATP13A52 ATP13A22
3 SIMAP similar genes for ATP13A4 using alignment to 5 protein entries: AT134_HUMAN (see all proteins):ATP13A5 ATP13A3 ATP13A2
ATP13A4 for paralogs About GeneDecksing
|
Genomic Variants
for ATP13A4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATP13A4 (193119866 - 193310900 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 15 variations for ATP13A4
13 CNVs: 51065 62143 91801 51064 0567 91799 23180 3471 80068 36123 1662 91800 63699
2 Indels: 41755 80067
Human Gene Mutation Database (HGMD): ATP13A4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP13A4 |
|
Disorders
/ Diseases
for ATP13A4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATP13A4 for disorders About GeneDecksing
OMIM gene information: 609556
OMIM disorders: --
UniProtKB/Swiss-Prot: AT134_HUMAN, Q4VNC1
Note=A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI)disorders. Paracentric inversion inv(3)(q25;q29). The inversion produces a disruption of the protein
4  diseases for ATP13A4: About MalaCardsnephrocalcinosis parkinson's disease malaria neuronitis
1 disease from the University of Copenhagen DISEASES database for ATP13A4:Benign epilepsy with centrotemporal spikes Human Genome Epidemiology (HuGE) Navigator: ATP13A4 (1 document)
Export disorders for ATP13A4 gene to outside databases
|
Publications
for ATP13A4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATP13A4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ATP13A4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (2004)
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
- Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. (PubMed id 15925480)1, 2, 9 Kwasnicka-Crawford D.A.... Scherer S.W. (2005)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for ATP13A4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATP13A4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATP13A4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATP13A4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ATP13A4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATP13A4 gene:
Search GeneIP for patents involving ATP13A4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATP13A4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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