Human Gene ATP11A (ENST00000375645.8_4) from GENCODE V47lift37
  Description: ATPase phospholipid transporting 11A, transcript variant 1 (from RefSeq NM_015205.3)
Gencode Transcript: ENST00000375645.8_4
Gencode Gene: ENSG00000068650.19_9
Transcript (Including UTRs)
   Position: hg19 chr13:113,344,352-113,541,482 Size: 197,131 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr13:113,344,731-113,532,608 Size: 187,878 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:113,344,352-113,541,482)mRNA (may differ from genome)Protein (1134 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AT11A_HUMAN
DESCRIPTION: RecName: Full=Probable phospholipid-transporting ATPase IH; EC=3.6.3.1; AltName: Full=ATPase IS; AltName: Full=ATPase class VI type 11A;
CATALYTIC ACTIVITY: ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
SUBUNIT: Interacts with TMEM30A, but not with TMEM30B.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Early endosome. Recycling endosome. Endoplasmic reticulum. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B. In the presence of TMEM30A, predominantly located in the plasma membrane.
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: ATP11A
Diseases sorted by gene-association score: pulmonary fibrosis, idiopathic* (6), cerebellar ataxia, mental retardation and dysequlibrium syndrome (2), cataract 1, multiple types (2), toxic myocarditis (2)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.53 RPKM in Lung
Total median expression: 278.73 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -211.70379-0.559 Picture PostScript Text
3' UTR -1762.605302-0.332 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
PF13246 - Cation transport ATPase (P-type)
PF16209 - Phospholipid-translocating ATPase N-terminal
PF16212 - Phospholipid-translocating P-type ATPase C-terminal

SCOP Domains:
81653 - Calcium ATPase, transduction domain A
56784 - HAD-like
81660 - Metal cation-transporting ATPase, ATP-binding domain N
81665 - Calcium ATPase, transmembrane domain M

ModBase Predicted Comparative 3D Structure on P98196
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  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:0015914 phospholipid transport
GO:0043312 neutrophil degranulation
GO:0045332 phospholipid translocation

Cellular Component:
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035579 specific granule membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0055037 recycling endosome
GO:0070821 tertiary granule membrane


-  Descriptions from all associated GenBank mRNAs
  BC167794 - Synthetic construct Homo sapiens clone IMAGE:100068184, MGC:195801 ATPase, class VI, type 11A (ATP11A) mRNA, encodes complete protein.
AK128241 - Homo sapiens cDNA FLJ46375 fis, clone TESTI4052219, highly similar to Potential phospholipid-transporting ATPase IH (EC 3.6.3.13).
BC024154 - Homo sapiens ATPase, class VI, type 11A, mRNA (cDNA clone IMAGE:3928684), partial cds.
AB028944 - Homo sapiens mRNA for KIAA1021 protein, partial cds.
AL161996 - Homo sapiens mRNA; cDNA DKFZp434P0831 (from clone DKFZp434P0831).
JD239708 - Sequence 220732 from Patent EP1572962.
JD163316 - Sequence 144340 from Patent EP1572962.
AK024264 - Homo sapiens cDNA FLJ14202 fis, clone NT2RP3002985.
AK091253 - Homo sapiens cDNA FLJ33934 fis, clone CTONG2017814.
BC035215 - Homo sapiens, clone IMAGE:4427831, mRNA.
BC008824 - Homo sapiens cDNA clone IMAGE:4109512, partial cds.
BC044649 - Homo sapiens ATPase, Class VI, type 11A, mRNA (cDNA clone IMAGE:4864458), partial cds.
JD054171 - Sequence 35195 from Patent EP1572962.
JD399332 - Sequence 380356 from Patent EP1572962.
JD110954 - Sequence 91978 from Patent EP1572962.
JD473772 - Sequence 454796 from Patent EP1572962.
JD456649 - Sequence 437673 from Patent EP1572962.
JD075574 - Sequence 56598 from Patent EP1572962.
JD195150 - Sequence 176174 from Patent EP1572962.
JD247636 - Sequence 228660 from Patent EP1572962.
JD215625 - Sequence 196649 from Patent EP1572962.
JD276065 - Sequence 257089 from Patent EP1572962.
JD496627 - Sequence 477651 from Patent EP1572962.
JD476141 - Sequence 457165 from Patent EP1572962.
JD406164 - Sequence 387188 from Patent EP1572962.
JD452328 - Sequence 433352 from Patent EP1572962.
JD496738 - Sequence 477762 from Patent EP1572962.
JD128408 - Sequence 109432 from Patent EP1572962.
JD392022 - Sequence 373046 from Patent EP1572962.
JD389168 - Sequence 370192 from Patent EP1572962.
JD389169 - Sequence 370193 from Patent EP1572962.
JD241243 - Sequence 222267 from Patent EP1572962.
JD326387 - Sequence 307411 from Patent EP1572962.
JD077755 - Sequence 58779 from Patent EP1572962.
JD336896 - Sequence 317920 from Patent EP1572962.
JD389095 - Sequence 370119 from Patent EP1572962.
JD491285 - Sequence 472309 from Patent EP1572962.
JD167353 - Sequence 148377 from Patent EP1572962.
JD562506 - Sequence 543530 from Patent EP1572962.
JD036502 - Sequence 17526 from Patent EP1572962.
JD521344 - Sequence 502368 from Patent EP1572962.
JD488464 - Sequence 469488 from Patent EP1572962.
JD042205 - Sequence 23229 from Patent EP1572962.
AK025511 - Homo sapiens cDNA: FLJ21858 fis, clone HEP02301.
JD269001 - Sequence 250025 from Patent EP1572962.
JD269001 - Sequence 250025 from Patent EP1572962.
JD269001 - Sequence 250025 from Patent EP1572962.
JD354500 - Sequence 335524 from Patent EP1572962.
JD534236 - Sequence 515260 from Patent EP1572962.
JD533990 - Sequence 515014 from Patent EP1572962.
JD464768 - Sequence 445792 from Patent EP1572962.
JD150931 - Sequence 131955 from Patent EP1572962.
JD134585 - Sequence 115609 from Patent EP1572962.
JD097352 - Sequence 78376 from Patent EP1572962.
JD052673 - Sequence 33697 from Patent EP1572962.
JD353904 - Sequence 334928 from Patent EP1572962.
JD056566 - Sequence 37590 from Patent EP1572962.
JD353750 - Sequence 334774 from Patent EP1572962.
JD040510 - Sequence 21534 from Patent EP1572962.
JD114920 - Sequence 95944 from Patent EP1572962.
JD144888 - Sequence 125912 from Patent EP1572962.
JD049899 - Sequence 30923 from Patent EP1572962.
JD052167 - Sequence 33191 from Patent EP1572962.
JD411130 - Sequence 392154 from Patent EP1572962.
JD057560 - Sequence 38584 from Patent EP1572962.
JD418137 - Sequence 399161 from Patent EP1572962.
JD524390 - Sequence 505414 from Patent EP1572962.
JD142811 - Sequence 123835 from Patent EP1572962.
JD279901 - Sequence 260925 from Patent EP1572962.
JD502331 - Sequence 483355 from Patent EP1572962.
JD051427 - Sequence 32451 from Patent EP1572962.
JD052826 - Sequence 33850 from Patent EP1572962.
JD130224 - Sequence 111248 from Patent EP1572962.
JD377830 - Sequence 358854 from Patent EP1572962.
JD364102 - Sequence 345126 from Patent EP1572962.
JD228400 - Sequence 209424 from Patent EP1572962.
JD415317 - Sequence 396341 from Patent EP1572962.
JD100972 - Sequence 81996 from Patent EP1572962.
JD112605 - Sequence 93629 from Patent EP1572962.
JD056970 - Sequence 37994 from Patent EP1572962.
JD316047 - Sequence 297071 from Patent EP1572962.
JD478956 - Sequence 459980 from Patent EP1572962.
JD211656 - Sequence 192680 from Patent EP1572962.
JD196395 - Sequence 177419 from Patent EP1572962.
JD504586 - Sequence 485610 from Patent EP1572962.
JD534222 - Sequence 515246 from Patent EP1572962.
JD049848 - Sequence 30872 from Patent EP1572962.
JD223563 - Sequence 204587 from Patent EP1572962.
JD355970 - Sequence 336994 from Patent EP1572962.
JD401072 - Sequence 382096 from Patent EP1572962.
JD210407 - Sequence 191431 from Patent EP1572962.
JD219883 - Sequence 200907 from Patent EP1572962.
JD170891 - Sequence 151915 from Patent EP1572962.
JD227517 - Sequence 208541 from Patent EP1572962.
JD076400 - Sequence 57424 from Patent EP1572962.
JD317302 - Sequence 298326 from Patent EP1572962.
JD140215 - Sequence 121239 from Patent EP1572962.
JD176839 - Sequence 157863 from Patent EP1572962.
JD025307 - Sequence 6331 from Patent EP1572962.
JD022237 - Sequence 3261 from Patent EP1572962.
JD028512 - Sequence 9536 from Patent EP1572962.

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

Protein P98196 (Reactome details) participates in the following event(s):

R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
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-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-168256 Immune System
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AT11A_HUMAN, ATPIH, ATPIS, ENST00000375645.1, ENST00000375645.2, ENST00000375645.3, ENST00000375645.4, ENST00000375645.5, ENST00000375645.6, ENST00000375645.7, KIAA1021, NM_015205, P98196, Q5VXT2, uc318mkl.1, uc318mkl.2
UCSC ID: ENST00000375645.8_4
RefSeq Accession: NM_015205.3
Protein: P98196 (aka AT11A_HUMAN or A11A_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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