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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATP13A5 Gene

protein-coding GIFtS: 40
GCID: GC03M192992

ATPase type 13A5

Explore 3 diseases affiliated with
ATP13A5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATPase Type 13A5¹ ²		P5-ATPase Isoform 5³
FLJ16025¹		EC 3.6.3⁸
P5-ATPase²		EC 3.6.3.12⁸
Probable Cation-Transporting ATPase 13A5²		EC 3.6.3.8⁸
EC 3.6.3.-³		EC 3.6.3.N1¹

External Ids:	HGNC: 31789¹	Entrez Gene: 344905²	Ensembl: ENSG00000187527⁷	UniProtKB: Q4VNC0³

Export aliases for ATP13A5 gene to outside databases

Previous GC identifers: GC03U900579 GC03M194476 GC03M190379

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(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 ATP13A5 gene promoter:
AML1a CUTL1 LCR-F1 POU2F1 HSF2 FOXJ2 (long isoform) POU2F1a FOXJ2 TGIF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP13A5 promoter sequence

Search SABiosciences Chromatin IP Primers for ATP13A5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP13A5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q29 Ensembl cytogenetic band: 3q29 HGNC cytogenetic band: 3q29

ATP13A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP13A5 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M192992: view genomic region (about GC identifiers)

Start:	192,992,579 bp from pter	End:	193,096,632 bp from pter
Size:	104,054 bases	Orientation:	minus strand

(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: AT135_HUMAN, Q4VNC0 (See protein sequence)

Recommended Name: Probable cation-transporting ATPase 13A5

Size: 1218 amino acids; 137327 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAQ89030.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAQ89030.1; Type=Frameshift; Positions=1126, 1135; Sequence=BAC85490.1; Type=Miscellaneous discrepancy;

Note=Unlikely isoform. Cloning artifact;

Secondary accessions: Q6UWS4 Q6ZWL0

Explore the universe of human proteins at neXtProt for ATP13A5: NX_Q4VNC0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q4VNC0

4/14 DME Specific Peptides for ATP13A5 (Q4VNC0) (see all 14)

TGESIPV

SPPLLLS

DKTGTLT

PCDAVLI

ATP13A5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_940907.2

ENSEMBL proteins:

ENSP00000341942 ENSP00000389416

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	Uscn Proteins for ATP13A5

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	--

ATP13A5 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATP13A5 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR023306 ATPase_cation_domN

IPR023299 ATPase_P-typ_cyto_domN

IPR008250 ATPase_P-typ_transduc_dom_A

IPR023214 HAD-like_dom

IPR004014 ATPase_P-typ_cation-transptr_N

Graphical View of Domain Structure for InterPro Entry Q4VNC0

ProtoNet protein and cluster: Q4VNC0

1 Blocks protein family: IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: AT135_HUMAN, Q4VNC0

Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AT135_HUMAN, Q4VNC0

Catalytic activity: ATP + H(2)O = ADP + phosphate

Enzyme 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

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	--

ATP13A5 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ATP13A5:

Decreased viability of wild-ty

1 MGI phenotypic allele

for Atp13a5 (no phenotypes)

ATP13A5 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Atp13a5^tm1Lex for ATP13A5

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ATP13A5

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In Situ Assay
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(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 Central^TM Interacting Genes and Proteins Networks for ATP13A5

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	--

ATP13A5 for ontologies About GeneDecksing

(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 Small Molecules at EMD Millipore

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Search CenterWatch for drugs/clinical trials and news about ATP13A5 / AT135

(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,
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About This Section

REFSEQ mRNAs for ATP13A5 gene:

NM_198505.2

Unigene Cluster for ATP13A5:

ATPase type 13A5

Hs.658032 [show with all ESTs]

Unigene Representative Sequence: AY823163

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000342358(uc011bsq.2) ENST00000495496 ENST00000488957 ENST00000446087

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Additional cDNA sequence:

AY358667.1 AY823163.1 BC033334.1

4 DOTS entries:

DT.101968408 DT.97808603 DT.91983411 DT.120867873

GeneLoc Exon Structure

(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

ATP13A5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ATP13A5 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATP13A5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP13A5

SOURCE GeneReport for Unigene cluster: Hs.658032

SABiosciences Custom PCR Arrays for ATP13A5

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In Situ
Assay Products:

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(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 ATP13A5 gene from 5/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ATP13A5¹	ATPase type 13A5	66.61(n) 63.9(a)		424902 XM_422713.2 XP_422713.2
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 6)	--	64(a) 63(a) (see all 6)	1 ↔ many 1 ↔ many (see all 6)	GL343524.1(242522-274604) GL343524.1(354059-410994)
zebrafish (Danio rerio)	Actinopterygii	CABZ01111936.2⁶	--	41(a)	possible ortholog	Zv9_NA495(8046-9278)
fruit fly (Drosophila melanogaster)	Insecta	CG32000⁶	--	29(a)	1 → many	4(152846-163749)
worm (Caenorhabditis elegans)	Secernentea	catp-7⁶ catp-6⁶ (see all 3)	Probable cation-transporting ATPase W08D2.5 (see all 3)	33(a) 32(a) (see all 3)	many ↔ many many ↔ many (see all 3)	IV(8585529-8594603) IV(9817391-9824612)

ENSEMBL Gene Tree for ATP13A5 (if available)
TreeFam Gene Tree for ATP13A5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ATP13A5 gene

ATP13A3² ATP13A2² ATP13A4²

3 SIMAP similar genes for ATP13A5 using alignment to 2 protein entries: AT135_HUMAN (see all proteins):

ATP13A4 ATP13A3 ATP13A2

ATP13A5 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115909307^1,2	F	--	192992456(+)	`ACTTGT/GGACAA`	1	--	ds500¹		1		WA	118
rs182344507^1,2		--	192992549(+)	`GTACCA/GTGACA`	1	--	ds500¹		0	--	--	--	--
rs142313476^1,2		--	192992628(+)	`AATGCA/GTTTTT`	1	--	ds500¹		0	--	--	--	--
rs185269934^1,2		--	192992638(+)	`TTTCTC/TTCATT`	1	--	ds500¹		0	--	--	--	--
rs191446570^1,2		--	192992677(+)	`TCTAAG/TGTCCC`	1	--	ds500¹		0	--	--	--	--
rs145934362^1,2		--	192992716(+)	`ATACTC/TTGAAT`	1	--	ds500¹		0	--	--	--	--
rs73196871^1,2	C,F	--	192992750(+)	`AAGGGG/AAGAGT`	1	--	ds500¹		1		NA	120
rs201842085^1,2		--	192992855(+)	`TGCTGC/TTCTGT`	2	E	syn¹		0	--	--	--	--
rs7428010^1,2	C,H	--	192992878(+)	`CAATTT/GGAGTT`	2	/K /Q	mis¹		4		EA NS NA	300
rs114013184^1,2	C,F	--	192992920(+)	`GCCTCC/TGTTGA`	2	R G	mis¹		2		WA NA	4668

HapMap Linkage Disequilibrium report for ATP13A5 (192992579 - 193096632 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATP13A5: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP13A5

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(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

ATP13A5 for disorders About GeneDecksing

3 diseases for ATP13A5: About MalaCards

parkinson's disease malaria neuronitis

Export disorders for ATP13A5 gene to outside databases

(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 ATP13A5 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ATP13A5)

Utopia: connect your pdf to the dynamic
world of online information

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} Kwasnicka-Crawford D.A.... Scherer S.W. (2005)
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} Clark H.F.... Gray A.M. (2003)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 344905	HGNC: 31789	Ensembl:ENSG00000187527	euGenes: HUgn344905	ECgene: ATP13A5
H-InvDB: ATP13A5

(According to HUGE)
About This Section

(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 ATP13A5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ATP13A5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ATP13A5 gene:
Search GeneIP for patents involving ATP13A5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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ATP13A5 Gene

ATPase type 13A5

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ATP13A5 Gene

ATPase type 13A5

Aliasesfor ATP13A5 gene

Summariesfor ATP13A5 gene

Genomic Viewsfor ATP13A5 gene

Proteinsfor ATP13A5 gene

Protein Domains /Familiesfor ATP13A5 gene

Functionfor ATP13A5 gene

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Expression for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene

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Families
for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene

Expression
for ATP13A5 gene

Orthologs
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for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene

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for ATP13A5 gene