ATP11A (ATPase phospholipid transporting 11A)

2010-04-01  

Identity

HGNC
ATP11A
LOCATION
13q34
LOCUSID
23250
ALIAS
ATPIH,ATPIS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/haematological-explorer/