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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	148229
Gene name	ATPase phospholipid transporting 8B3
Gene symbol	ATP8B3
Synonyms (NCBI Gene)	ATPIK
Chromosome	19
Chromosome location	19p13.3
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs568761860	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant, synonymous variant

112

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022420	hsa-miR-124-3p	Microarray	18668037
MIRT541674	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT636890	hsa-miR-4756-3p	HITS-CLIP	23824327
MIRT636889	hsa-miR-5190	HITS-CLIP	23824327
MIRT636888	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT541669	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT541668	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT541666	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT636887	hsa-miR-4468	HITS-CLIP	23824327
MIRT636886	hsa-miR-4276	HITS-CLIP	23824327
MIRT541659	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT541658	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT541657	hsa-miR-7703	HITS-CLIP	23824327
MIRT636885	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT636884	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT636883	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT541674	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541673	hsa-miR-548p	PAR-CLIP	21572407
MIRT541672	hsa-miR-1323	PAR-CLIP	21572407
MIRT541671	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT541669	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541670	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541668	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541666	hsa-miR-4793-3p	PAR-CLIP	21572407
MIRT541667	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT541664	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT541665	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT541663	hsa-miR-612	PAR-CLIP	21572407
MIRT541662	hsa-miR-6860	PAR-CLIP	21572407
MIRT541661	hsa-miR-891a-5p	PAR-CLIP	21572407
MIRT541660	hsa-miR-661	PAR-CLIP	21572407
MIRT541659	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541658	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541657	hsa-miR-7703	PAR-CLIP	21572407
MIRT541674	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT636890	hsa-miR-4756-3p	HITS-CLIP	23824327
MIRT636889	hsa-miR-5190	HITS-CLIP	23824327
MIRT636888	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT541669	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT541668	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT541666	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT636887	hsa-miR-4468	HITS-CLIP	23824327
MIRT636886	hsa-miR-4276	HITS-CLIP	23824327
MIRT541659	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT541658	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT541657	hsa-miR-7703	HITS-CLIP	23824327
MIRT636885	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT636884	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT636883	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT541674	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541673	hsa-miR-548p	PAR-CLIP	21572407
MIRT541672	hsa-miR-1323	PAR-CLIP	21572407
MIRT541671	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT541669	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541670	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541668	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541666	hsa-miR-4793-3p	PAR-CLIP	21572407
MIRT541667	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT541664	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT541665	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT541663	hsa-miR-612	PAR-CLIP	21572407
MIRT541662	hsa-miR-6860	PAR-CLIP	21572407
MIRT541661	hsa-miR-891a-5p	PAR-CLIP	21572407
MIRT541660	hsa-miR-661	PAR-CLIP	21572407
MIRT541659	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541658	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541657	hsa-miR-7703	PAR-CLIP	21572407
MIRT809873	hsa-miR-1231	CLIP-seq
MIRT809874	hsa-miR-1299	CLIP-seq
MIRT809875	hsa-miR-193a-5p	CLIP-seq
MIRT809876	hsa-miR-2110	CLIP-seq
MIRT809877	hsa-miR-3150a-3p	CLIP-seq
MIRT809878	hsa-miR-3175	CLIP-seq
MIRT809879	hsa-miR-3616-3p	CLIP-seq
MIRT809880	hsa-miR-3655	CLIP-seq
MIRT809881	hsa-miR-4260	CLIP-seq
MIRT809882	hsa-miR-4265	CLIP-seq
MIRT809883	hsa-miR-4288	CLIP-seq
MIRT809884	hsa-miR-4296	CLIP-seq
MIRT809885	hsa-miR-4322	CLIP-seq
MIRT809886	hsa-miR-4436b-3p	CLIP-seq
MIRT809887	hsa-miR-4728-5p	CLIP-seq
MIRT809888	hsa-miR-4736	CLIP-seq
MIRT809889	hsa-miR-4795-5p	CLIP-seq
MIRT809890	hsa-miR-632	CLIP-seq
MIRT809891	hsa-miR-657	CLIP-seq
MIRT809892	hsa-miR-875-3p	CLIP-seq
MIRT809893	hsa-miR-939	CLIP-seq
MIRT809894	hsa-miR-103a	CLIP-seq
MIRT809895	hsa-miR-107	CLIP-seq
MIRT809896	hsa-miR-1197	CLIP-seq
MIRT809897	hsa-miR-1301	CLIP-seq
MIRT809898	hsa-miR-1343	CLIP-seq
MIRT809899	hsa-miR-3064-5p	CLIP-seq
MIRT809900	hsa-miR-3135b	CLIP-seq
MIRT809901	hsa-miR-3192	CLIP-seq
MIRT809902	hsa-miR-3652	CLIP-seq
MIRT809903	hsa-miR-3689a-3p	CLIP-seq
MIRT809904	hsa-miR-3689c	CLIP-seq
MIRT809905	hsa-miR-4430	CLIP-seq
MIRT809906	hsa-miR-4505	CLIP-seq
MIRT809887	hsa-miR-4728-5p	CLIP-seq
MIRT809907	hsa-miR-5047	CLIP-seq
MIRT809908	hsa-miR-563	CLIP-seq
MIRT809909	hsa-miR-892b	CLIP-seq
MIRT809910	hsa-miR-922	CLIP-seq
MIRT2178530	hsa-miR-2355-5p	CLIP-seq
MIRT2178531	hsa-miR-4476	CLIP-seq
MIRT2178532	hsa-miR-4533	CLIP-seq
MIRT2178533	hsa-miR-4659a-3p	CLIP-seq
MIRT2178534	hsa-miR-4659b-3p	CLIP-seq
MIRT2178535	hsa-miR-4778-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0002080	Component	Acrosomal membrane	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0007030	Process	Golgi organization	IBA
GO:0007339	Process	Binding of sperm to zona pellucida	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	20961850
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051649	Process	Establishment of localization in cell	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:1990531	Component	Phospholipid-translocating ATPase complex	NAS	20961850

MIM	HGNC	e!Ensembl
605866	13535	ENSG00000130270

O60423

Protein name

Phospholipid-transporting ATPase IK (EC 7.6.2.1) (ATPase class I type 8B member 3)

Protein function

P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16209	PhoLip_ATPase_N	109 → 186	Phospholipid-translocating ATPase N-terminal	Family
PF00122	E1-E2_ATPase	213 → 455		Family
PF13246	Cation_ATPase	569 → 673		Family
PF00702	Hydrolase	619 → 795		Domain
PF16212	PhoLip_ATPase_C	965 → 1216	Phospholipid-translocating P-type ATPase C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 3 was only detected in testis. {ECO:0000269|PubMed:12880872}.

Sequence

MGTGPAQTPRSTRAGPEPSPAPPGPGDTGDSDVTQEGSGPAGIRGGETVIRAGMGDSPGR
GAPERRHKAQPGRARKYEWRPEGPTSMGSLGQREDLQDEDRNSAFTWKVQANNRAYNGQF
KEKVILCWQRKKYKTNVIRTAKYNFYSFLPLNLYEQFHRVSNLFFLIIIILQSIPDISTL
PWFSLSTPMVCLLFIRATRDLVDDMGRHKSDRAINNRPCQILMGKSFKQKKWQDLCVGDV
VCLRKDNIVPADMLLLASTEPSSLCYVETVDIDGETNLKFRQALMVTHKELATIKKMASF
QGTVTCEAPNSRMHHFVGCLEWNDKKYSLDIGNLLLRGCRIRNTDTCYGLVIYAGFDTKI
MKNCGKIHLKRTKLDLLMNKLVVVIFISVVLVCLVLAFGFGFSVKEFKDHHYYLSGVHGS
SVAAESFFVFWSFLILLSVTIPMSMFILSEFIYLGNSVFIDWDVQMYYKPQDVPAKARST
SLNDHLGQVEYIFSDKTGTLTQNILTFNKCCISGRVYGPDSEATTRPKENPYLWNKFADG
KLLFHNAALLHLVRTNGDEAVREFWRLLAICHTVMVRESPRERPDQLLYQAASPDEGALV
TAARNFGYVFLSRTQDTVTIMELGEERVYQVLAIMDFNSTRKRMSVLVRKPEGAICLYTK
GADTVIFERLHRRGAMEFATEEALAAFAQETLRTLCLAYREVAEDIYEDWQQRHQEASLL
LQNRAQALQQLLGATAIEDRLQDGVPETIKCLKKSNIKIWVLTGDKQETAVNIGFACELL
SENMLILEEKEISRILETYWENSNNLLTRESLSQVKLALVINGDFLDKLLVSLRKEPRAL
AQNVNMDEAWQELGQSRRDFLYARRLSLLCRRFGLPLAAPPAQDSRARRSSEVLQERAFV
DLASKCQAVICCRVTPKQKALIVALVKKYHQVVTLAIGDGANDINMIKTADVGVGLAGQE
GMQAVQNSDFVLGQFCFLQRLLLVHGRWSYVRICKFLRYFFYKSMASMMVQVWFACYNGF
TGQPLYEGWFLALFNLLYSTLPVLYIGLFEQDVSAEQSLEKPELYVVGQKDELFNYWVFV
QAIAHGVTTSLVNFFMTLWISRDTAGPASFSDHQSFAVVVALSCLLSITMEVILIIKYWT
ALCVATILLSLGFYAIMTTTTQSFWLFRVSPTTFPFLYADLSVMSSPSILLVVLLSVSIN
TFPVLALRVIFPALKELRAKEEKVEEGPSEEIFTMEPLPHVHRESRARRSSYAFSHREGY
ANLITQGTILRRGPGVSSDIASESLDPSDEEAASSPKESQ

Sequence length

1300

Interactions

View interactions

	Reactome
			Ion transport by P-type ATPases

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cholestatic liver disease	Cholestatic liver disease	BEFREE	12880872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19254779		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	40550052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP8B3 (ATPase phospholipid transporting 8B3)