ATP10A (ATPase phospholipid transporting 10A (putative))

Gene

• Entrez ID: 57194
• Gene name: ATPase phospholipid transporting 10A (putative)
• Gene symbol: ATP10A
• Synonyms (NCBI Gene): ATP10C, ATPVA, ATPVC
• Chromosome: 15
• Chromosome location: 15q12
• Summary: 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 on

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016850	hsa-miR-335-5p	Microarray	18185580
MIRT806251	hsa-miR-1255a	CLIP-seq
MIRT806252	hsa-miR-1255b	CLIP-seq
MIRT806253	hsa-miR-19a	CLIP-seq
MIRT806254	hsa-miR-19b	CLIP-seq
MIRT806255	hsa-miR-205	CLIP-seq
MIRT806256	hsa-miR-3124-3p	CLIP-seq
MIRT806257	hsa-miR-3182	CLIP-seq
MIRT806258	hsa-miR-3616-5p	CLIP-seq
MIRT806259	hsa-miR-3647-5p	CLIP-seq
MIRT806260	hsa-miR-377	CLIP-seq
MIRT806261	hsa-miR-4274	CLIP-seq
MIRT806262	hsa-miR-4468	CLIP-seq
MIRT806263	hsa-miR-4680-5p	CLIP-seq
MIRT806264	hsa-miR-4704-3p	CLIP-seq
MIRT806265	hsa-miR-4782-5p	CLIP-seq
MIRT806266	hsa-miR-4795-5p	CLIP-seq
MIRT806267	hsa-miR-573	CLIP-seq
MIRT1938078	hsa-miR-1914	CLIP-seq
MIRT1938079	hsa-miR-3185	CLIP-seq
MIRT806260	hsa-miR-377	CLIP-seq
MIRT1938080	hsa-miR-4643	CLIP-seq
MIRT1938081	hsa-miR-4709-3p	CLIP-seq
MIRT1938082	hsa-miR-570	CLIP-seq
MIRT1938083	hsa-miR-592	CLIP-seq
MIRT1938084	hsa-miR-597	CLIP-seq
MIRT1938085	hsa-miR-653	CLIP-seq
MIRT1938079	hsa-miR-3185	CLIP-seq
MIRT806260	hsa-miR-377	CLIP-seq
MIRT1938080	hsa-miR-4643	CLIP-seq
MIRT1938081	hsa-miR-4709-3p	CLIP-seq
MIRT1938082	hsa-miR-570	CLIP-seq
MIRT1938085	hsa-miR-653	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21914794, 25947375, 31571211
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	21914794
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	25947375
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008360	Process	Regulation of cell shape	NAS	11353404
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11353404
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	NAS	21914794
GO:0046872	Function	Metal ion binding	IEA
GO:0090554	Function	Phosphatidylcholine floppase activity	IEA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IBA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	NAS	11353404
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	TAS
GO:0140345	Function	Phosphatidylcholine flippase activity	IDA	25947375, 29599178, 30530492
GO:0140351	Function	Glycosylceramide flippase activity	IDA	30530492
GO:0140351	Function	Glycosylceramide flippase activity	IEA
GO:1903527	Process	Positive regulation of membrane tubulation	IDA	29599178
GO:1990531	Component	Phospholipid-translocating ATPase complex	IDA	25947375
GO:1990531	Component	Phospholipid-translocating ATPase complex	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	25947375

Other IDs

• MIM: 605855
• HGNC: 13542
• e!Ensembl: ENSG00000206190

Protein

• UniProt ID: O60312
• Protein name: Phospholipid-transporting ATPase VA (EC 7.6.2.1) (ATPase class V type 10A) (Aminophospholipid translocase VA) (P4-ATPase flippase complex alpha subunit ATP10A)
• Protein function: Catalytic component of P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of phosphatidylcholine (PC) from the outer to the inner leaflet of the plasma membrane (PubMed:25947375, PubMed:29599178, PubMed:30
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16209	PhoLip_ATPase_N	44 → 112	Phospholipid-translocating ATPase N-terminal	Family
  PF13246	Cation_ATPase	665 → 781		Family
  PF16212	PhoLip_ATPase_C	1057 → 1302	Phospholipid-translocating P-type ATPase C-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.
• Sequence:

  MEREPAGTEEPGPPGRRRRREGRTRTVRSNLLPPPGAEDPAAGAAKGERRRRRGCAQHLA
  DNRLKTTKYTLLSFLPKNLFEQFHRPANVYFVFIALLNFVPAVNAFQPGLALAPVLFILA
  ITAFRDLWEDYSRHRSDHKINHLGCLVFSREEKKYVNRFWKEIHVGDFVRLRCNEIFPAD
  ILLLSSSDPDGLCHIETANLDGETNLKRRQVVRGFSELVSEFNPLTFTSVIECEKPNNDL
  SRFRGCIIHDNGKKAGLYKENLLLRGCTLRNTDAVVGIVIYAGHETKALLNNSGPRYKRS
  KLERQMNCDVLWCVLLLVCMSLFSAVGHGLWIWRYQEKKSLFYVPKSDGSSLSPVTAAVY
  SFLTMIIVLQVLIPISLYVSIEIVKACQVYFINQDMQLYDEETDSQLQCRALNITEDLGQ
  IQYIFSDKTGTLTENKMVFRRCTVSGVEYSHDANAQRLARYQEADSEEEEVVPRGGSVSQ
  RGSIGSHQSVRVVHRTQSTKSHRRTGSRAEAKRASMLSKHTAFSSPMEKDITPDPKLLEK
  VSECDKSLAVARHQEHLLAHLSPELSDVFDFFIALTICNTVVVTSPDQPRTKVRVRFELK
  SPVKTIEDFLRRFTPSCLTSGCSSIGSLAANKSSHKLGSSFPSTPSSDGMLLRLEERLGQ
  PTSAIASNGYSSQADNWASELAQEQESERELRYEAESPDEAALVYAARAYNCVLVERLHD
  QVSVELPHLGRLTFELLHTLGFDSVRKRMSVVIRHPLTDEINVYTKGADSVVMDLLQPCS
  SVDARGRHQKKIRSKTQNYLNVYAAEGLRTLCIAKRVLSKEEYACWLQSHLEAESSLENS
  EELLFQSAIRLETNLHLLGATGIEDRLQDGVPETISKLRQAGLQIWVLTGDKQETAVNIA
  YACKLLDHDEEVITLNATSQEACAALLDQCLCYVQSRGLQRAPEKTKGKVSMRFSSLCPP
  STSTASGRRPSLVIDGRSLAYALEKNLEDKFLFLAKQCRSVLCCRSTPLQKSMVVKLVRS
  KLKAMTLAIGDGANDVSMIQVADVGVGISGQEGMQAVMASDFAVPKFRYLERLLILHGHW
  CYSRLANMVLYFFYKNTMFVGLLFWFQFFCGFSASTMIDQWYLIFFNLLFSSLPPLVTGV
  LDRDVPANVLLTNPQLYKSGQNMEEYRPRTFWFNMADAAFQSLVCFSIPYLAYYDSNVDL
  FTWGTPIVTIALLTFLLHLGIETKTWTWLNWITCGFSVLLFFTVALIYNASCATCYPPSN
  PYWTMQALLGDPVFYLTCLMTPVAALLPRLFFRSLQGRVFPTQLQLARQLTRKSPRRCSA
  PKETFAQGRLPKDSGTEHSSGRTVKTSVPLSQPSWHTQQPVCSLEASGEPSTVDMSMPVR
  EHTLLEGLSAPAPMSSAPGEAVLRSPGGCPEESKVRAASTGRVTPLSSLFSLPTFSLLNW
  ISSWSLVSRLGSVLQFSRTEQLADGQAGRGLPVQPHSGRSGLQGPDHRLLIGASSRRSQ

• Sequence length: 1499

Pathways

Reactome:

Ion transport by P-type ATPases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGELMAN SYNDROME DUE TO IMPRINTING DEFECT IN 15Q11-Q13	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP10A-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	37264161	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	11326269, 25451953		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	11353404	Associate	★☆☆☆☆ Found in Text Mining only
Angelman syndrome due to imprinting defect in 15q11-q13	Angelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	18726118	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18726118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	11353404, 11857573, 18186074, 20609483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	11353404	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	12851639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	18186074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21901158, 31869513	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21901158		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	18436822		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29518789	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35181301	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34852710	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19254779		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	18726118		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	12920063, 18726118, 19894069		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27515689		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32233732	Associate	★☆☆☆☆ Found in Text Mining only