Human Gene ATP10A (ENST00000389967.9) from GENCODE V44
  Description: ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out). (from UniProt O60312)
RefSeq Summary (NM_024490): The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000389967.9
Gencode Gene: ENSG00000206190.13
Transcript (Including UTRs)
   Position: hg38 chr15:25,841,482-25,865,184 Size: 23,703 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr15:25,862,318-25,863,096 Size: 779 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:25,841,482-25,865,184)mRNA (may differ from genome)Protein (155 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblExonPrimerGencodeGeneCardsHGNCHPRD
LynxMalacardsMGIneXtProtPubMedReactome
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AT10A_HUMAN
DESCRIPTION: RecName: Full=Probable phospholipid-transporting ATPase VA; EC=3.6.3.1; AltName: Full=ATPase class V type 10A; AltName: Full=Aminophospholipid translocase VA;
CATALYTIC ACTIVITY: ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B.
TISSUE SPECIFICITY: Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity).
DISEASE: Defects in ATP10A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATP10A
Diseases sorted by gene-association score: angelman syndrome (18), angelman syndrome due to imprinting defect in 15q11-q13* (14), autism spectrum disorder (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.11 RPKM in Artery - Aorta
Total median expression: 126.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -128.60276-0.466 Picture PostScript Text
3' UTR -129.10456-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR006539 - ATPase_P-typ_Plipid-transl
IPR023214 - HAD-like_dom

Pfam Domains:
PF00122 - E1-E2 ATPase

ModBase Predicted Comparative 3D Structure on O60312
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0004012 phospholipid-translocating ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006869 lipid transport
GO:0008360 regulation of cell shape
GO:0015914 phospholipid transport
GO:0034220 ion transmembrane transport
GO:0045332 phospholipid translocation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB051358 - Homo sapiens ATP10C mRNA for putative aminophospholipid translocase, complete cds.
BC052251 - Homo sapiens ATPase, class V, type 10A, mRNA (cDNA clone MGC:59648 IMAGE:6258931), complete cds.
EU831492 - Synthetic construct Homo sapiens clone HAIB:100066521; DKFZo008H1017 ATPase, class V, type 10A protein (ATP10A) gene, encodes complete protein.
EU831579 - Synthetic construct Homo sapiens clone HAIB:100066608; DKFZo004H1018 ATPase, class V, type 10A protein (ATP10A) gene, encodes complete protein.
BC038712 - Homo sapiens ATPase, class V, type 10A, mRNA (cDNA clone IMAGE:5271753), complete cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O60312 (Reactome details) participates in the following event(s):

R-HSA-939763 P-type ATPases type IV transport external-facing APLs to internal side of the plasma membrane
R-HSA-947591 P-type ATPases type IV transport internal-facing APLs to external side of the plasma membrane
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AT10A_HUMAN, ATP10C, ATPVA, ATPVC, BC038712, ENST00000389967.1, ENST00000389967.2, ENST00000389967.3, ENST00000389967.4, ENST00000389967.5, ENST00000389967.6, ENST00000389967.7, ENST00000389967.8, KIAA0566, O60312, Q969I4, uc001zax.1, uc001zax.2, uc001zax.3, uc001zax.4, uc001zax.5
UCSC ID: ENST00000389967.9
RefSeq Accession: NM_024490
Protein: O60312 (aka AT10A_HUMAN or A10A_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.