Human Gene ATP11C (ENST00000327569.7) from GENCODE V44
  Description: Homo sapiens ATPase phospholipid transporting 11C (ATP11C), transcript variant 1, mRNA. (from RefSeq NM_173694)
Gencode Transcript: ENST00000327569.7
Gencode Gene: ENSG00000101974.15
Transcript (Including UTRs)
   Position: hg38 chrX:139,726,349-139,832,288 Size: 105,940 Total Exon Count: 30 Strand: -
Coding Region
   Position: hg38 chrX:139,731,654-139,832,189 Size: 100,536 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:139,726,349-139,832,288)mRNA (may differ from genome)Protein (1132 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AT11C_HUMAN
DESCRIPTION: RecName: Full=Probable phospholipid-transporting ATPase IG; EC=3.6.3.1; AltName: Full=ATPase IQ; AltName: Full=ATPase class VI type 11C;
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. Endoplasmic reticulum membrane. Note=Efficient exit from the endoplasmic reticulum requires the presence of TMEM30A. Some cell membrane localization observed in the presence of TMEM30B.
TISSUE SPECIFICITY: Widely expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
SEQUENCE CAUTION: Sequence=BAC03692.1; Type=Erroneous initiation; Sequence=BAC86172.1; Type=Erroneous initiation; Sequence=BAC86377.1; Type=Erroneous initiation; Sequence=BAD18440.1; Type=Erroneous initiation; Sequence=CAI39713.1; Type=Erroneous gene model prediction; Sequence=CAI39714.1; Type=Erroneous gene model prediction; Sequence=CAI39716.1; Type=Erroneous gene model prediction; Sequence=CAI40418.1; Type=Erroneous gene model prediction; Sequence=CAI41444.1; Type=Erroneous gene model prediction; Sequence=CAI41445.1; Type=Erroneous gene model prediction; Sequence=CAI41446.1; Type=Erroneous gene model prediction; Sequence=CAI41447.1; Type=Erroneous gene model prediction;

-  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: ATP11C
Diseases sorted by gene-association score: congenital hemolytic anemia (6)

-  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: 8.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 182.32 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 -21.7099-0.219 Picture PostScript Text
3' UTR -582.202617-0.222 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 Q8NB49
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:0002329 pre-B cell differentiation
GO:0006869 lipid transport
GO:0015914 phospholipid transport
GO:0034220 ion transmembrane transport
GO:0045332 phospholipid translocation
GO:0045579 positive regulation of B cell differentiation

Cellular Component:
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  BX648981 - Homo sapiens mRNA; cDNA DKFZp779E2420 (from clone DKFZp779E2420).
AK093835 - Homo sapiens cDNA FLJ36516 fis, clone TRACH2001898.
AK125476 - Homo sapiens cDNA FLJ43487 fis, clone OCBBF3004264, moderately similar to Mus musculus putative E1-E2 ATPase.
AK125474 - Homo sapiens cDNA FLJ43485 fis, clone OCBBF3003320, moderately similar to Potential phospholipid-transporting ATPase IS (EC 3.6.3.13).
AJ580093 - Homo sapiens mRNA for ATPase, Class VI, type 11C (ATP11C gene).
AJ580094 - Homo sapiens mRNA for ATPase, Class VI, type 11C (ATP11C gene), alternative splice product.
BX648320 - Homo sapiens mRNA; cDNA DKFZp686G09145 (from clone DKFZp686G09145).
D16467 - Homo sapiens mRNA, Xq terminal portion.
AK091552 - Homo sapiens cDNA FLJ34233 fis, clone FCBBF3026048, highly similar to Mus musculus putative E1-E2 ATPase mRNA.
AX747055 - Sequence 580 from Patent EP1308459.
JD059620 - Sequence 40644 from Patent EP1572962.
JD265371 - Sequence 246395 from Patent EP1572962.
JD553099 - Sequence 534123 from Patent EP1572962.
JD296418 - Sequence 277442 from Patent EP1572962.
JD087318 - Sequence 68342 from Patent EP1572962.
JD352211 - Sequence 333235 from Patent EP1572962.
JD566569 - Sequence 547593 from Patent EP1572962.
JD554312 - Sequence 535336 from Patent EP1572962.
JD291551 - Sequence 272575 from Patent EP1572962.
JD359504 - Sequence 340528 from Patent EP1572962.
JD060511 - Sequence 41535 from Patent EP1572962.
JD202112 - Sequence 183136 from Patent EP1572962.
BC132728 - Homo sapiens ATPase, class VI, type 11C, mRNA (cDNA clone IMAGE:40146750).
BC132730 - Homo sapiens ATPase, class VI, type 11C, mRNA (cDNA clone IMAGE:40146752).
JD213979 - Sequence 195003 from Patent EP1572962.
JD298881 - Sequence 279905 from Patent EP1572962.
JD300642 - Sequence 281666 from Patent EP1572962.
JD504129 - Sequence 485153 from Patent EP1572962.
JD040374 - Sequence 21398 from Patent EP1572962.
JD334988 - Sequence 316012 from Patent EP1572962.
JD363942 - Sequence 344966 from Patent EP1572962.
JD313623 - Sequence 294647 from Patent EP1572962.
JD194193 - Sequence 175217 from Patent EP1572962.
AK131262 - Homo sapiens cDNA FLJ16194 fis, clone BRTHA2018443, moderately similar to POTENTIAL PHOSPHOLIPID-TRANSPORTING ATPASE IS (EC 3.6.1.-).
AK125986 - Homo sapiens cDNA FLJ43998 fis, clone TESTI4021478, moderately similar to Potential phospholipid-transporting ATPase IS (EC 3.6.3.13).
JD182312 - Sequence 163336 from Patent EP1572962.
BC172372 - Synthetic construct Homo sapiens clone IMAGE:100069066, MGC:199077 ATPase, class VI, type 11C (ATP11C) mRNA, encodes complete protein.

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

Protein Q8NB49 (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: AT11C_HUMAN, ATPIG, ATPIQ, ENST00000327569.1, ENST00000327569.2, ENST00000327569.3, ENST00000327569.4, ENST00000327569.5, ENST00000327569.6, NM_173694, Q5JT69, Q5JT70, Q5JT71, Q5JT72, Q5JT73, Q6ZND5, Q6ZU50, Q6ZUP7, Q70IJ9, Q70IK0, Q8NB49, Q8WX24, uc004faz.1, uc004faz.2, uc004faz.3, uc004faz.4
UCSC ID: ENST00000327569.7
RefSeq Accession: NM_173694
Protein: Q8NB49 (aka AT11C_HUMAN or A11C_HUMAN)
CCDS: CCDS14668.1, CCDS35410.1

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