Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	286410
Gene name Gene Name - the full gene name approved by the HGNC.	ATPase phospholipid transporting 11C (ATP11C blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATP11C
Synonyms (NCBI Gene) Gene synonyms aliases	ATPIG, ATPIQ, HACXL
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq27.1

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1556323334	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

Show/Hide all(242)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003182	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT003182	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT003182	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT021452	hsa-miR-9-5p	Microarray	17612493
MIRT039505	hsa-miR-652-3p	CLASH	23622248
MIRT559391	hsa-miR-487a-3p	PAR-CLIP	21572407
MIRT559390	hsa-miR-154-3p	PAR-CLIP	21572407
MIRT559389	hsa-miR-3929	PAR-CLIP	21572407
MIRT559388	hsa-miR-4419b	PAR-CLIP	21572407
MIRT559387	hsa-miR-4478	PAR-CLIP	21572407
MIRT559386	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT559385	hsa-miR-4705	PAR-CLIP	21572407
MIRT559384	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT559383	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT559391	hsa-miR-487a-3p	PAR-CLIP	21572407
MIRT559390	hsa-miR-154-3p	PAR-CLIP	21572407
MIRT559389	hsa-miR-3929	PAR-CLIP	21572407
MIRT559388	hsa-miR-4419b	PAR-CLIP	21572407
MIRT559387	hsa-miR-4478	PAR-CLIP	21572407
MIRT559386	hsa-miR-3074-3p	PAR-CLIP	21572407
MIRT559385	hsa-miR-4705	PAR-CLIP	21572407
MIRT559384	hsa-miR-485-5p	PAR-CLIP	21572407
MIRT559383	hsa-miR-6884-5p	PAR-CLIP	21572407
MIRT806552	hsa-miR-1303	CLIP-seq
MIRT806553	hsa-miR-194	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806556	hsa-miR-223	CLIP-seq
MIRT806557	hsa-miR-299-5p	CLIP-seq
MIRT806558	hsa-miR-3123	CLIP-seq
MIRT806559	hsa-miR-3145-5p	CLIP-seq
MIRT806560	hsa-miR-323b-3p	CLIP-seq
MIRT806561	hsa-miR-338-5p	CLIP-seq
MIRT806562	hsa-miR-339-5p	CLIP-seq
MIRT806563	hsa-miR-3613-3p	CLIP-seq
MIRT806564	hsa-miR-3684	CLIP-seq
MIRT806565	hsa-miR-3691-3p	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806567	hsa-miR-371b-5p	CLIP-seq
MIRT806568	hsa-miR-374a	CLIP-seq
MIRT806569	hsa-miR-374b	CLIP-seq
MIRT806570	hsa-miR-374c	CLIP-seq
MIRT806571	hsa-miR-3974	CLIP-seq
MIRT806572	hsa-miR-4266	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806574	hsa-miR-4426	CLIP-seq
MIRT806575	hsa-miR-4446-5p	CLIP-seq
MIRT806576	hsa-miR-4647	CLIP-seq
MIRT806577	hsa-miR-4662b	CLIP-seq
MIRT806578	hsa-miR-4666-5p	CLIP-seq
MIRT806579	hsa-miR-4695-5p	CLIP-seq
MIRT806580	hsa-miR-4698	CLIP-seq
MIRT806581	hsa-miR-4712-3p	CLIP-seq
MIRT806582	hsa-miR-4720-3p	CLIP-seq
MIRT806583	hsa-miR-4729	CLIP-seq
MIRT806584	hsa-miR-4755-5p	CLIP-seq
MIRT806585	hsa-miR-4761-5p	CLIP-seq
MIRT806586	hsa-miR-4764-3p	CLIP-seq
MIRT806587	hsa-miR-4779	CLIP-seq
MIRT806588	hsa-miR-4802-3p	CLIP-seq
MIRT806589	hsa-miR-4804-3p	CLIP-seq
MIRT806590	hsa-miR-495	CLIP-seq
MIRT806591	hsa-miR-579	CLIP-seq
MIRT806592	hsa-miR-651	CLIP-seq
MIRT806593	hsa-miR-655	CLIP-seq
MIRT806594	hsa-miR-670	CLIP-seq
MIRT806595	hsa-miR-935	CLIP-seq
MIRT806596	hsa-miR-1200	CLIP-seq
MIRT806597	hsa-miR-1273f	CLIP-seq
MIRT806598	hsa-miR-1297	CLIP-seq
MIRT806599	hsa-miR-140-5p	CLIP-seq
MIRT806600	hsa-miR-143	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT806602	hsa-miR-26a	CLIP-seq
MIRT806603	hsa-miR-26b	CLIP-seq
MIRT806604	hsa-miR-28-3p	CLIP-seq
MIRT806557	hsa-miR-299-5p	CLIP-seq
MIRT806605	hsa-miR-3148	CLIP-seq
MIRT806606	hsa-miR-3153	CLIP-seq
MIRT806607	hsa-miR-3183	CLIP-seq
MIRT806608	hsa-miR-3187-3p	CLIP-seq
MIRT806609	hsa-miR-3591-5p	CLIP-seq
MIRT806610	hsa-miR-3611	CLIP-seq
MIRT806611	hsa-miR-3646	CLIP-seq
MIRT806612	hsa-miR-3653	CLIP-seq
MIRT806613	hsa-miR-3658	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806614	hsa-miR-3924	CLIP-seq
MIRT806615	hsa-miR-3926	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806616	hsa-miR-4305	CLIP-seq
MIRT806617	hsa-miR-4324	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT806619	hsa-miR-4435	CLIP-seq
MIRT806620	hsa-miR-4465	CLIP-seq
MIRT806621	hsa-miR-4480	CLIP-seq
MIRT806622	hsa-miR-4668-5p	CLIP-seq
MIRT806623	hsa-miR-4680-5p	CLIP-seq
MIRT806624	hsa-miR-4684-5p	CLIP-seq
MIRT806625	hsa-miR-4693-3p	CLIP-seq
MIRT806626	hsa-miR-4701-5p	CLIP-seq
MIRT806627	hsa-miR-4708-5p	CLIP-seq
MIRT806581	hsa-miR-4712-3p	CLIP-seq
MIRT806628	hsa-miR-4723-3p	CLIP-seq
MIRT806629	hsa-miR-4770	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT806632	hsa-miR-544b	CLIP-seq
MIRT806633	hsa-miR-548s	CLIP-seq
MIRT806634	hsa-miR-588	CLIP-seq
MIRT806635	hsa-miR-618	CLIP-seq
MIRT806636	hsa-miR-648	CLIP-seq
MIRT806637	hsa-miR-890	CLIP-seq
MIRT806583	hsa-miR-4729	CLIP-seq
MIRT1938231	hsa-miR-135a	CLIP-seq
MIRT1938232	hsa-miR-135b	CLIP-seq
MIRT1938233	hsa-miR-186	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT1938234	hsa-miR-23a	CLIP-seq
MIRT1938235	hsa-miR-23b	CLIP-seq
MIRT1938236	hsa-miR-23c	CLIP-seq
MIRT1938237	hsa-miR-27a	CLIP-seq
MIRT1938238	hsa-miR-27b	CLIP-seq
MIRT1938239	hsa-miR-3120-3p	CLIP-seq
MIRT806608	hsa-miR-3187-3p	CLIP-seq
MIRT806561	hsa-miR-338-5p	CLIP-seq
MIRT806563	hsa-miR-3613-3p	CLIP-seq
MIRT1938240	hsa-miR-3617	CLIP-seq
MIRT1938241	hsa-miR-3667-3p	CLIP-seq
MIRT1938242	hsa-miR-3673	CLIP-seq
MIRT1938243	hsa-miR-3686	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806570	hsa-miR-374c	CLIP-seq
MIRT1938244	hsa-miR-380	CLIP-seq
MIRT806614	hsa-miR-3924	CLIP-seq
MIRT1938245	hsa-miR-3927	CLIP-seq
MIRT1938246	hsa-miR-4291	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT806619	hsa-miR-4435	CLIP-seq
MIRT1938247	hsa-miR-4495	CLIP-seq
MIRT1938248	hsa-miR-4511	CLIP-seq
MIRT1938249	hsa-miR-4652-3p	CLIP-seq
MIRT806626	hsa-miR-4701-5p	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT806583	hsa-miR-4729	CLIP-seq
MIRT806585	hsa-miR-4761-5p	CLIP-seq
MIRT1938251	hsa-miR-4762-3p	CLIP-seq
MIRT806586	hsa-miR-4764-3p	CLIP-seq
MIRT1938252	hsa-miR-4795-3p	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT1938253	hsa-miR-515-5p	CLIP-seq
MIRT1938254	hsa-miR-548b-3p	CLIP-seq
MIRT806633	hsa-miR-548s	CLIP-seq
MIRT1938255	hsa-miR-570	CLIP-seq
MIRT806634	hsa-miR-588	CLIP-seq
MIRT1938256	hsa-miR-633	CLIP-seq
MIRT1938257	hsa-miR-641	CLIP-seq
MIRT806593	hsa-miR-655	CLIP-seq
MIRT1938258	hsa-miR-9	CLIP-seq
MIRT1938233	hsa-miR-186	CLIP-seq
MIRT2177622	hsa-miR-193a-3p	CLIP-seq
MIRT2177623	hsa-miR-193b	CLIP-seq
MIRT806561	hsa-miR-338-5p	CLIP-seq
MIRT1938242	hsa-miR-3673	CLIP-seq
MIRT2177624	hsa-miR-4686	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT2177625	hsa-miR-4742-3p	CLIP-seq
MIRT2177626	hsa-miR-548n	CLIP-seq
MIRT1938258	hsa-miR-9	CLIP-seq
MIRT2444355	hsa-miR-1231	CLIP-seq
MIRT2444356	hsa-miR-128	CLIP-seq
MIRT1938237	hsa-miR-27a	CLIP-seq
MIRT1938238	hsa-miR-27b	CLIP-seq
MIRT2444357	hsa-miR-3655	CLIP-seq
MIRT2444358	hsa-miR-4288	CLIP-seq
MIRT2177625	hsa-miR-4742-3p	CLIP-seq
MIRT2444359	hsa-miR-513a-5p	CLIP-seq
MIRT2444360	hsa-miR-630	CLIP-seq
MIRT2444361	hsa-miR-632	CLIP-seq
MIRT2444362	hsa-miR-760	CLIP-seq
MIRT806598	hsa-miR-1297	CLIP-seq
MIRT2481057	hsa-miR-149	CLIP-seq
MIRT806553	hsa-miR-194	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT806602	hsa-miR-26a	CLIP-seq
MIRT806603	hsa-miR-26b	CLIP-seq
MIRT2481058	hsa-miR-3064-5p	CLIP-seq
MIRT2481059	hsa-miR-3202	CLIP-seq
MIRT806563	hsa-miR-3613-3p	CLIP-seq
MIRT806611	hsa-miR-3646	CLIP-seq
MIRT2481060	hsa-miR-3652	CLIP-seq
MIRT806566	hsa-miR-369-3p	CLIP-seq
MIRT806567	hsa-miR-371b-5p	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT2481061	hsa-miR-4430	CLIP-seq
MIRT806620	hsa-miR-4465	CLIP-seq
MIRT2481062	hsa-miR-4505	CLIP-seq
MIRT2481063	hsa-miR-4533	CLIP-seq
MIRT2481064	hsa-miR-4658	CLIP-seq
MIRT806580	hsa-miR-4698	CLIP-seq
MIRT806581	hsa-miR-4712-3p	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT2481065	hsa-miR-4758-5p	CLIP-seq
MIRT2481066	hsa-miR-4794	CLIP-seq
MIRT2481067	hsa-miR-4799-5p	CLIP-seq
MIRT806590	hsa-miR-495	CLIP-seq
MIRT2481068	hsa-miR-498	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT2481069	hsa-miR-511	CLIP-seq
MIRT2481070	hsa-miR-550b	CLIP-seq
MIRT2481071	hsa-miR-601	CLIP-seq
MIRT2481072	hsa-miR-605	CLIP-seq
MIRT806635	hsa-miR-618	CLIP-seq
MIRT806598	hsa-miR-1297	CLIP-seq
MIRT806554	hsa-miR-200b	CLIP-seq
MIRT806555	hsa-miR-200c	CLIP-seq
MIRT806601	hsa-miR-217	CLIP-seq
MIRT806602	hsa-miR-26a	CLIP-seq
MIRT806603	hsa-miR-26b	CLIP-seq
MIRT806573	hsa-miR-429	CLIP-seq
MIRT806618	hsa-miR-4418	CLIP-seq
MIRT806620	hsa-miR-4465	CLIP-seq
MIRT2481064	hsa-miR-4658	CLIP-seq
MIRT1938250	hsa-miR-4719	CLIP-seq
MIRT2481065	hsa-miR-4758-5p	CLIP-seq
MIRT2675606	hsa-miR-4778-5p	CLIP-seq
MIRT2481067	hsa-miR-4799-5p	CLIP-seq
MIRT2481068	hsa-miR-498	CLIP-seq
MIRT806630	hsa-miR-509-3-5p	CLIP-seq
MIRT806631	hsa-miR-509-5p	CLIP-seq
MIRT2481069	hsa-miR-511	CLIP-seq
MIRT2481070	hsa-miR-550b	CLIP-seq
MIRT2481071	hsa-miR-601	CLIP-seq
MIRT2481072	hsa-miR-605	CLIP-seq
MIRT806635	hsa-miR-618	CLIP-seq

Show/Hide all(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
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
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	21914794, 25315773, 26567335
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	IDA	32493773
GO:0045332	Process	Phospholipid translocation	NAS	21914794
GO:0046872	Function	Metal ion binding	IEA
GO:0055037	Component	Recycling endosome	IBA
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IDA	24904167, 25315773, 32493773
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IEA
GO:0090556	Function	Phosphatidylserine 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	TAS
GO:0140331	Process	Aminophospholipid translocation	IEA
GO:0140346	Function	Phosphatidylserine flippase activity	IDA	24904167, 25315773, 32493773
GO:0140346	Function	Phosphatidylserine flippase activity	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IDA	32493773
GO:1990531	Component	Phospholipid-translocating ATPase complex	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	21914794

MIM	HGNC	e!Ensembl
300516	13554	ENSG00000101974

Protein

UniProt ID

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
KNLFEQFRRIANFYFLIIFLVQVTVDTPTSPVTSGLPLFFVITVTAIKQGYEDCLRHRAD
NEVNKSTVYIIENAKRVRKESEKIKVGDVVEVQADETFPCDLILLSSCTTDGTCYVTTAS
LDGESNCKTHYAVRDTIALCTAESIDTLRAAIECEQPQPDLYKFVGRINIYSNSLEAVAR
SLGPENLLLKGATLKNTEKIYGVAVYTGMETKMALNYQGKSQKRSAVEKSINAFLIVYLF
ILLTKAAVCTTLKYVWQSTPYNDEPWYNQKTQKERETLKVLKMFTDFLSFMVLFNFIIPV
SMYVTVEMQKFLGSFFISWDKDFYDEEINEGALVNTSDLNEELGQVDYVFTDKTGTLTEN
SMEFIECCIDGHKYKGVTQEVDGLSQTDGTLTYFDKVDKNREELFLRALCLCHTVEIKTN
DAVDGATESAELTYISSSPDEIALVKGAKRYGFTFLGNRNGYMRVENQRKEIEEYELLHT
LNFDAVRRRMSVIVKTQEGDILLFCKGADSAVFPRVQNHEIELTKVHVERNAMDGYRTLC
VAFKEIAPDDYERINRQLIEAKMALQDREEKMEKVFDDIETNMNLIGATAVEDKLQDQAA
ETIEALHAAGLKVWVLTGDKMETAKSTCYACRLFQTNTELLELTTKTIEESERKEDRLHE
LLIEYRKKLLHEFPKSTRSFKKAWTEHQEYGLIIDGSTLSLILNSSQDSSSNNYKSIFLQ
ICMKCTAVLCCRMAPLQKAQIVRMVKNLKGSPITLSIGDGANDVSMILESHVGIGIKGKE
GRQAARNSDYSVPKFKHLKKLLLAHGHLYYVRIAHLVQYFFYKNLCFILPQFLYQFFCGF
SQQPLYDAAYLTMYNICFTSLPILAYSLLEQHINIDTLTSDPRLYMKISGNAMLQLGPFL
YWTFLAAFEGTVFFFGTYFLFQTASLEENGKVYGNWTFGTIVFTVLVFTVTLKLALDTRF
WTWINHFVIWGSLAFYVFFSFFWGGIIWPFLKQQRMYFVFAQMLSSVSTWLAIILLIFIS
LFPEILLIVLKNVRRRSARRNLSCRRASDSLSARPSVRPLLLRTFSDESNVL

Sequence length

1132

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		Ion transport by P-type ATPases

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Anemia	X-linked congenital hemolytic anemia	rs1556323334	N/A

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anemia Hemolytic	Associate	37671681
Anemia Hemolytic Congenital	Associate	26944472, 37671681

ATP11C (ATPase phospholipid transporting 11C (ATP11C blood group))