Human Gene ATP10A (ENST00000389967.9) from GENCODE V44
Description: ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out). (from UniProt O60312) RefSeq Summary (NM_024490): The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000389967.9 Gencode Gene: ENSG00000206190.13 Transcript (Including UTRs) Position: hg38 chr15:25,841,482-25,865,184 Size: 23,703 Total Exon Count: 6 Strand: - Coding Region Position: hg38 chr15:25,862,318-25,863,096 Size: 779 Coding Exon Count: 2
ID:AT10A_HUMAN DESCRIPTION: RecName: Full=Probable phospholipid-transporting ATPase VA; EC=3.6.3.1; AltName: Full=ATPase class V type 10A; AltName: Full=Aminophospholipid translocase VA; CATALYTIC ACTIVITY: ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B. TISSUE SPECIFICITY: Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). DISEASE: Defects in ATP10A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove. SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60312
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AB051358 - Homo sapiens ATP10C mRNA for putative aminophospholipid translocase, complete cds. BC052251 - Homo sapiens ATPase, class V, type 10A, mRNA (cDNA clone MGC:59648 IMAGE:6258931), complete cds. EU831492 - Synthetic construct Homo sapiens clone HAIB:100066521; DKFZo008H1017 ATPase, class V, type 10A protein (ATP10A) gene, encodes complete protein. EU831579 - Synthetic construct Homo sapiens clone HAIB:100066608; DKFZo004H1018 ATPase, class V, type 10A protein (ATP10A) gene, encodes complete protein. BC038712 - Homo sapiens ATPase, class V, type 10A, mRNA (cDNA clone IMAGE:5271753), complete cds.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O60312 (Reactome details) participates in the following event(s):
R-HSA-939763 P-type ATPases type IV transport external-facing APLs to internal side of the plasma membrane R-HSA-947591 P-type ATPases type IV transport internal-facing APLs to external side of the plasma membrane R-HSA-936837 Ion transport by P-type ATPases R-HSA-983712 Ion channel transport R-HSA-382551 Transport of small molecules