Homo sapiens Protein: ATP10A | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-4304.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | ATP10A | ||||||||||||||||||
Protein Name | ATPase, class V, type 10A | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000349325 | ||||||||||||||||||
InnateDB Gene | IDBG-4302 (ATP10A) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
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. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). {ECO:0000305}. | ||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000269PubMed:21914794}; Multi-pass membrane protein {ECO:0000269PubMed:21914794}. Endoplasmic reticulum membrane {ECO:0000269PubMed:21914794}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B. | ||||||||||||||||||
Disease Associations | Angelman syndrome (AS) [MIM:105830]: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001757
Cation-transporting P-type ATPase IPR006539 Cation-transporting P-type ATPase, subfamily IV IPR008250 P-type ATPase, A domain IPR023214 HAD-like domain IPR023299 P-type ATPase, cytoplasmic domain N |
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PFAM |
PF00122
PF00702 PF08282 PF13419 |
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PRINTS |
PR00119
PR00120 |
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PIRSF | |||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O60312 | ||||||||||||||||||
PhosphoSite | PhosphoSite-O60312 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 57194 | ||||||||||||||||||
UniGene | Hs.659258 | ||||||||||||||||||
RefSeq | NP_077816 | ||||||||||||||||||
HUGO | HGNC:13542 | ||||||||||||||||||
OMIM | 605855 | ||||||||||||||||||
CCDS | CCDS32178 | ||||||||||||||||||
HPRD | 05790 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB011138 AB051358 AY029487 AY029488 AY029489 AY029490 AY029491 AY029492 AY029493 AY029494 AY029495 AY029496 AY029497 AY029498 AY029499 AY029500 AY029501 AY029502 AY029503 AY029504 BC052251 | ||||||||||||||||||
GenPept | AAH52251 AAK33100 BAA25492 BAB47392 | ||||||||||||||||||