Gene Gene information from NCBI Gene database.
Entrez ID 23250
Gene name ATPase phospholipid transporting 11A
Gene symbol ATP11A
Synonyms (NCBI Gene)
ATPIHATPISAUNA2DFNA84HLD24
Chromosome 13
Chromosome location 13q34
Summary The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different
miRNA miRNA information provided by mirtarbase database.
489
miRTarBase ID miRNA Experiments Reference
MIRT049412 hsa-miR-92a-3p CLASH 23622248
MIRT049412 hsa-miR-92a-3p CLASH 23622248
MIRT048064 hsa-miR-197-3p CLASH 23622248
MIRT048064 hsa-miR-197-3p CLASH 23622248
MIRT042225 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
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, 33961781
GO:0005524 Function ATP binding IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605868 13552 ENSG00000068650
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P98196
Protein name Phospholipid-transporting ATPase IH (EC 7.6.2.1) (ATPase IS) (ATPase class VI type 11A) (P4-ATPase flippase complex alpha subunit ATP11A)
Protein function Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the pla
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16209 PhoLip_ATPase_N 26 97 Phospholipid-translocating ATPase N-terminal Family
PF00122 E1-E2_ATPase 124 377 Family
PF13246 Cation_ATPase 476 587 Family
PF16212 PhoLip_ATPase_C 851 1103 Phospholipid-translocating P-type ATPase C-terminal Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:26567335). Expressed in myoblasts (PubMed:29799007). {ECO:0000269|PubMed:26567335, ECO:0000269|PubMed:29799007}.
Sequence
MDCSLVRTLVHRYCAGEENWVDSRTIYVGHREPPPGAEAYIPQRYPDNRIVSSKYTFWNF
IPKNLFEQFRRVANFYFLIIFLVQLIIDTPTSPVTSG
LPLFFVITVTAIKQGYEDWLRHK
ADNAMNQCPVHFIQHGKLVRKQSRKLRVGDIVMVKEDETFPCDLIFLSSNRGDGTCHVTT
ASLDGESSHKTHYAVQDTKGFHTEEDIGGLHATIECEQPQPDLYKFVGRINVYSDLNDPV
VRPLGSENLLLRGATLKNTEKIFGVAIYTGMETKMALNYQSKSQKRSAVEKSMNAFLIVY
LCILISKALINTVLKYMWQSEPFRDEPWYNQKTESERQRNLFLKAFTDFLAFMVLFNYII
PVSMYVTVEMQKFLGSY
FITWDEDMFDEETGEGPLVNTSDLNEELGQVEYIFTDKTGTLT
ENNMEFKECCIEGHVYVPHVICNGQVLPESSGIDMIDSSPSVNGREREELFFRALCLCHT
VQVKDDDSVDGPRKSPDGGKSCVYISSSPDEVALVEGVQRLGFTYLRLKDNYMEILNREN
HIERFELLEILSFDSVRRRMSVIVKSATGEIYLFCKGADSSIFPRVI
EGKVDQIRARVER
NAVEGLRTLCVAYKRLIQEEYEGICKLLQAAKVALQDREKKLAEAYEQIEKDLTLLGATA
VEDRLQEKAADTIEALQKAGIKVWVLTGDKMETAAATCYACKLFRRNTQLLELTTKRIEE
QSLHDVLFELSKTVLRHSGSLTRDNLSGLSADMQDYGLIIDGAALSLIMKPREDGSSGNY
RELFLEICRSCSAVLCCRMAPLQKAQIVKLIKFSKEHPITLAIGDGANDVSMILEAHVGI
GVIGKEGRQAARNSDYAIPKFKHLKKMLLVHGHFYYIRISELVQYFFYKNVCFIFPQFLY
QFFCGFSQQTLYDTAYLTLYNISFTSLPILLYSLMEQHVGIDVLKRDPTLYRDVAKNALL
RWRVFIYWTLLGLFDALVFFFGAYFVFENTTVTSNGQIFGNWTFGTLVFTVMVFTVTLKL
ALDTHYWTWINHFVIWGSLLFYVVFSLLWGGVIWPFLNYQRMYYVFIQMLSSGPAWLAIV
LLVTISLLPDVLKKVLCRQLWPT
ATERVQTKSQCLSVEQSTIFMLSQTSSSLSF
Sequence length 1134
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   Neutrophil degranulation
Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
38
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 33 Pathogenic rs2140433062 RCV001789843
Hearing loss, autosomal dominant 84 Pathogenic; Likely pathogenic rs2140433062, rs2139425153, rs2502119435 RCV002074117
RCV002216149
RCV003153074
Leukodystrophy, hypomyelinating, 24 Pathogenic rs2140138203 RCV002248336
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs41288626, rs141087263 RCV005902633
RCV005907623
ATP11A-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs200385753, rs550617429, rs1203686820, rs1289675234, rs2501677092, rs2502859418, rs2502164968, rs200377899, rs552356984, rs142877948, rs148734980, rs141899520, rs151067179, rs142674466, rs188926192 RCV003900910
RCV003966301
RCV003417149
RCV003412478
RCV003402368
RCV003397393
RCV003397408
RCV003946534
RCV003896446
RCV003934343
RCV003956807
RCV004753147
RCV003950428
RCV003975635
RCV004753071
Cervical cancer Likely benign rs141087263 RCV005907625
Familial cancer of breast Likely benign rs141087263 RCV005907622
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 38003027
Colorectal Neoplasms Associate 34311674
COVID 19 Associate 37794074, 39344392, 39876559
Cystic Fibrosis Associate 33808877
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 35278131
Diabetes Mellitus Associate 36535927
Diabetes Mellitus Type 2 Associate 36535927
Hearing Loss Associate 35278131
Hearing Loss Sensorineural Associate 35278131
Idiopathic Pulmonary Fibrosis Associate 37794074, 39876559