Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person UniProt:Q9NTI2 ATP8A2
| Class:Id | ReferenceGeneProduct:49344 |
|---|---|
| _chainChangeLog | chain:1-1148 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NTI2 ATP8A2 |
| _timestamp | 2025-05-21 21:03:58 |
| chain | chain:1-1188 |
| checksum | 93DF0640FB189CD9 |
| comment | FUNCTION Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids (By similarity). Able to translocate phosphatidylserine, but not phosphatidylcholine (PubMed:34403372). Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules (By similarity). Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predominantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE) (By similarity). Phospholipid translocation is not associated with a countertransport of an inorganic ion or other charged substrate from the cytoplasmic side toward the exoplasm in connection with the phosphorylation from ATP (By similarity). ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth (By similarity). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes (By similarity). May be involved in vesicle trafficking in neuronal cells (By similarity). Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival (By similarity).CATALYTIC ACTIVITY ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + phosphate + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ADP + phosphate + H(+)COFACTOR Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit. Interacts with TMEM30A to form a flippase complex.SUBCELLULAR LOCATION Localizes to the Golgi and endosomes in photoreceptor cells (By similarity). Localizes to disk membranes of rod photoreceptor outer segments (ROS) (By similarity).ALTERNATIVE PRODUCTS Strongly expressed in the brain, cerebellum, retina and testis.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE A chromosomal aberration disrupting ATP8A2 has been found in a patient with severe intellectual disability and major hypotonia. Translocation t(10;13)(p12.1;q12.13) (PubMed:20683487).SIMILARITY Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. |
| description | recommendedName: fullName evidence="19"Phospholipid-transporting ATPase IB ecNumber evidence="19"7.6.2.1 alternativeName: ATPase class I type 8A member 2 alternativeName: ML-1 alternativeName: P4-ATPase flippase complex alpha subunit ATP8A2 |
| geneName | ATP8A2 ATPIB |
| identifier | Q9NTI2 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing ATP-binding Cell membrane Cell projection Chromosomal rearrangement Disease variant Endosome Golgi apparatus Intellectual disability Lipid transport Magnesium Membrane Metal-binding Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Translocase Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | ATP8A2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8994672] ENSEMBL:ENSG00000132932 ATP8A2 [Homo sapiens] |
| secondaryIdentifier | AT8A2_HUMAN Q6ZSP3 Q9H527 Q9NPU6 Q9NTL2 Q9NYM3 |
| sequenceLength | 1188 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:414782] UniProt:Q9NTI2-1 ATP8A2 [Homo sapiens] [ReferenceIsoform:436256] UniProt:Q9NTI2-3 ATP8A2 [Homo sapiens] [ReferenceIsoform:9627811] UniProt:Q9NTI2-4 ATP8A2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:939745] ATP8A2 [plasma membrane] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9NTI2 ATP8A2 (49344)
