ATP8A1 (ATPase phospholipid transporting 8A1)

2011-10-01  

Identity

HGNC
LOCATION
4p13
LOCUSID
ALIAS
ATPASEII,ATPIA,ATPP2
FUSION GENES

Other Information

Locus ID:

NCBI: 10396
MIM: 609542
HGNC: 13531
Ensembl: ENSG00000124406

Variants:

dbSNP: 10396
ClinVar: 10396
TCGA: ENSG00000124406
COSMIC: ATP8A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124406ENST00000264449Q9Y2Q0
ENSG00000124406ENST00000381668Q9Y2Q0
ENSG00000124406ENST00000504024H0YAJ4
ENSG00000124406ENST00000506602H0Y8I6
ENSG00000124406ENST00000510289Q4G1C1
ENSG00000124406ENST00000514372H0YAA1
ENSG00000124406ENST00000515872H0YAF4

Expression (GTEx)

0
10
20
30
40
50
60
70

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
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
255957982015Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.44
172297232007Nitrosative stress inhibits the aminophospholipid translocase resulting in phosphatidylserine externalization and macrophage engulfment: implications for the resolution of inflammation.29
232696852013Role for phospholipid flippase complex of ATP8A1 and CDC50A proteins in cell migration.26
264157322016MiR-140-3p suppressed cell growth and invasion by downregulating the expression of ATP8A1 in non-small cell lung cancer.15
290934432017Endosomal phosphatidylserine is critical for the YAP signalling pathway in proliferating cells.7
314169312019Cryo-EM structures capture the transport cycle of the P4-ATPase flippase.7
272872552016Aberrant hippocampal Atp8a1 levels are associated with altered synaptic strength, electrical activity, and autistic-like behavior.1
302827212019Interactive effect between ATPase-related genes and early-life tobacco smoke exposure on bronchial hyper-responsiveness detected in asthma-ascertained families.1

Citation

Dessen P

ATP8A1 (ATPase phospholipid transporting 8A1)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52456/atp8a1-(atpase-phospholipid-transporting-8a1)