ATP11A (ATPase phospholipid transporting 11A)

2010-04-01  

Identity

HGNC
LOCATION
13q34
LOCUSID
ALIAS
ATPIH,ATPIS
FUSION GENES

Other Information

Locus ID:

NCBI: 23250
MIM: 605868
HGNC: 13552
Ensembl: ENSG00000068650

Variants:

dbSNP: 23250
ClinVar: 23250
TCGA: ENSG00000068650
COSMIC: ATP11A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068650ENST00000375630E9PEJ6
ENSG00000068650ENST00000375645P98196
ENSG00000068650ENST00000415301H0Y624
ENSG00000068650ENST00000418678H0Y547
ENSG00000068650ENST00000419631A2A3G9
ENSG00000068650ENST00000471555H0Y8F0
ENSG00000068650ENST00000487903P98196
ENSG00000068650ENST00000610419A0A087WVE8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
363003022023A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.3
380030272023Association of a Single Nucleotide Variant in TERT with Airway Disease in Japanese Rheumatoid Arthritis Patients.0
363003022023A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.3
380030272023Association of a Single Nucleotide Variant in TERT with Airway Disease in Japanese Rheumatoid Arthritis Patients.0
352781312022Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.5
352781312022Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.5
338088772021DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study.3
344033722021A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.14
338088772021DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study.3
344033722021A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.14
325963642020Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A.3
325963642020Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A.3
276283042017Phospholipid flippases attenuate LPS-induced TLR4 signaling by mediating endocytic retrieval of Toll-like receptor 4.25
276283042017Phospholipid flippases attenuate LPS-induced TLR4 signaling by mediating endocytic retrieval of Toll-like receptor 4.25
200431142010ATP11A is a novel predictive marker for metachronous metastasis of colorectal cancer.16

Citation

Dessen P

ATP11A (ATPase phospholipid transporting 11A)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51420/css/lib/hgnc