Gene Gene information from NCBI Gene database.
Entrez ID 286410
Gene name ATPase phospholipid transporting 11C (ATP11C blood group)
Gene symbol ATP11C
Synonyms (NCBI Gene)
ATPIGATPIQHACXL
Chromosome X
Chromosome location Xq27.1
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1556323334 G>T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
242
miRTarBase ID miRNA Experiments Reference
MIRT003182 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT003182 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT003182 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT021452 hsa-miR-9-5p Microarray 17612493
MIRT039505 hsa-miR-652-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
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, 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
300516 13554 ENSG00000101974
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NB49
Protein name Phospholipid-transporting ATPase IG (EC 7.6.2.1) (ATPase IQ) (ATPase class VI type 11C) (P4-ATPase flippase complex alpha subunit ATP11C)
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
PDB 6LKN , 7BSP , 7BSQ , 7BSS , 7BSU , 7BSV , 7BSW , 7VSG , 7VSH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16209 PhoLip_ATPase_N 26 95 Phospholipid-translocating ATPase N-terminal Family
PF00122 E1-E2_ATPase 122 374 Family
PF13246 Cation_ATPase 470 579 Family
PF16212 PhoLip_ATPase_C 845 1097 Phospholipid-translocating P-type ATPase C-terminal Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15533723, ECO:0000269|PubMed:26567335}.
Sequence
MQMVPSLPPASECAGEEKRVGTRTVFVGNHPVSETEAYIAQRFCDNRIVSSKYTLWNFLP
KNLFEQFRRIANFYFLIIFLVQVTVDTPTSPVTSG
LPLFFVITVTAIKQGYEDCLRHRAD
NEVNKSTVYIIENAKRVRKESEKIKVGDVVEVQADETFPCDLILLSSCTTDGTCYVTTAS
LDGESNCKTHYAVRDTIALCTAESIDTLRAAIECEQPQPDLYKFVGRINIYSNSLEAVAR
SLGPENLLLKGATLKNTEKIYGVAVYTGMETKMALNYQGKSQKRSAVEKSINAFLIVYLF
ILLTKAAVCTTLKYVWQSTPYNDEPWYNQKTQKERETLKVLKMFTDFLSFMVLFNFIIPV
SMYVTVEMQKFLGS
FFISWDKDFYDEEINEGALVNTSDLNEELGQVDYVFTDKTGTLTEN
SMEFIECCIDGHKYKGVTQEVDGLSQTDGTLTYFDKVDKNREELFLRALCLCHTVEIKTN
DAVDGATESAELTYISSSPDEIALVKGAKRYGFTFLGNRNGYMRVENQRKEIEEYELLHT
LNFDAVRRRMSVIVKTQEGDILLFCKGADSAVFPRVQNH
EIELTKVHVERNAMDGYRTLC
VAFKEIAPDDYERINRQLIEAKMALQDREEKMEKVFDDIETNMNLIGATAVEDKLQDQAA
ETIEALHAAGLKVWVLTGDKMETAKSTCYACRLFQTNTELLELTTKTIEESERKEDRLHE
LLIEYRKKLLHEFPKSTRSFKKAWTEHQEYGLIIDGSTLSLILNSSQDSSSNNYKSIFLQ
ICMKCTAVLCCRMAPLQKAQIVRMVKNLKGSPITLSIGDGANDVSMILESHVGIGIKGKE
GRQAARNSDYSVPKFKHLKKLLLAHGHLYYVRIAHLVQYFFYKNLCFILPQFLYQFFCGF
SQQPLYDAAYLTMYNICFTSLPILAYSLLEQHINIDTLTSDPRLYMKISGNAMLQLGPFL
YWTFLAAFEGTVFFFGTYFLFQTASLEENGKVYGNWTFGTIVFTVLVFTVTLKLALDTRF
WTWINHFVIWGSLAFYVFFSFFWGGIIWPFLKQQRMYFVFAQMLSSVSTWLAIILLIFIS
LFPEILLIVLKNVRRRS
ARRNLSCRRASDSLSARPSVRPLLLRTFSDESNVL
Sequence length 1132
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nonpapillary renal cell carcinoma Pathogenic rs2148723294 RCV005918441
X-linked congenital hemolytic anemia Pathogenic; Likely pathogenic rs2148723294, rs1556323334 RCV001844398
RCV000678207
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP11C-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign rs199612746, rs201506912, rs45465799, rs750374357, rs17281983, rs55724992, rs200021805 RCV003936651
RCV004758275
RCV003979762
RCV003951730
RCV003978999
RCV003916187
RCV003970515
Clear cell carcinoma of kidney Benign rs17281983 RCV005935281
Lung cancer Benign rs17281983 RCV005935285
Malignant tumor of esophagus Benign rs17281983 RCV005935280
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Hemolytic Associate 37671681
Anemia Hemolytic Congenital Associate 26944472, 37671681