Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23250
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase phospholipid transporting 11A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP11A
Synonyms (NCBI Gene) Gene synonyms aliases
ATPIH, ATPIS, AUNA2, DFNA84, HLD24
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AUNA2, DFNA84, HLD24
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0005515 Function Protein binding IPI 21914794, 25947375
GO:0005524 Function ATP binding IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005769 Component Early endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605868 13552 ENSG00000068650
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Pulmonary fibrosis Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Familial Idiopathic Pulmonary Fibrosis, Idiopathic pulmonary fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)
23583980
Unknown
Disease term Disease name Evidence References Source
Leukodystrophy leukodystrophy, hypomyelinating, 24 GenCC
Deafness hearing loss, autosomal dominant 84 GenCC
Auditory Neuropathy auditory neuropathy, autosomal dominant 2 GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
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