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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23120
Gene name	ATPase phospholipid transporting 10B (putative)
Gene symbol	ATP10B
Synonyms (NCBI Gene)	ATPVB
Chromosome	5
Chromosome location	5q34

Show/Hide all (77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017827	hsa-miR-335-5p	Microarray	18185580
MIRT019342	hsa-miR-148b-3p	Microarray	17612493
MIRT806268	hsa-miR-1285	CLIP-seq
MIRT806269	hsa-miR-135a	CLIP-seq
MIRT806270	hsa-miR-135b	CLIP-seq
MIRT806271	hsa-miR-138	CLIP-seq
MIRT806272	hsa-miR-299-3p	CLIP-seq
MIRT806273	hsa-miR-3117-5p	CLIP-seq
MIRT806274	hsa-miR-3138	CLIP-seq
MIRT806275	hsa-miR-3184	CLIP-seq
MIRT806276	hsa-miR-3187-5p	CLIP-seq
MIRT806277	hsa-miR-326	CLIP-seq
MIRT806278	hsa-miR-330-5p	CLIP-seq
MIRT806279	hsa-miR-3619-3p	CLIP-seq
MIRT806280	hsa-miR-3622b-5p	CLIP-seq
MIRT806281	hsa-miR-3652	CLIP-seq
MIRT806282	hsa-miR-3671	CLIP-seq
MIRT806283	hsa-miR-378g	CLIP-seq
MIRT806284	hsa-miR-423-5p	CLIP-seq
MIRT806285	hsa-miR-4430	CLIP-seq
MIRT806286	hsa-miR-4456	CLIP-seq
MIRT806287	hsa-miR-4486	CLIP-seq
MIRT806288	hsa-miR-4491	CLIP-seq
MIRT806289	hsa-miR-4504	CLIP-seq
MIRT806290	hsa-miR-4505	CLIP-seq
MIRT806291	hsa-miR-450b-5p	CLIP-seq
MIRT806292	hsa-miR-452	CLIP-seq
MIRT806293	hsa-miR-4657	CLIP-seq
MIRT806294	hsa-miR-4676-3p	CLIP-seq
MIRT806295	hsa-miR-4677-3p	CLIP-seq
MIRT806296	hsa-miR-4679	CLIP-seq
MIRT806297	hsa-miR-4682	CLIP-seq
MIRT806298	hsa-miR-4696	CLIP-seq
MIRT806299	hsa-miR-4776-5p	CLIP-seq
MIRT806300	hsa-miR-4800-5p	CLIP-seq
MIRT806301	hsa-miR-515-5p	CLIP-seq
MIRT806302	hsa-miR-542-3p	CLIP-seq
MIRT806303	hsa-miR-548g	CLIP-seq
MIRT806304	hsa-miR-576-3p	CLIP-seq
MIRT806305	hsa-miR-607	CLIP-seq
MIRT806306	hsa-miR-612	CLIP-seq
MIRT1938086	hsa-miR-1827	CLIP-seq
MIRT1938087	hsa-miR-183	CLIP-seq
MIRT1938088	hsa-miR-2467-3p	CLIP-seq
MIRT1938089	hsa-miR-2682	CLIP-seq
MIRT1938090	hsa-miR-3185	CLIP-seq
MIRT1938091	hsa-miR-34a	CLIP-seq
MIRT1938092	hsa-miR-34c-5p	CLIP-seq
MIRT1938093	hsa-miR-380	CLIP-seq
MIRT1938094	hsa-miR-449a	CLIP-seq
MIRT1938095	hsa-miR-449b	CLIP-seq
MIRT1938096	hsa-miR-449c	CLIP-seq
MIRT1938097	hsa-miR-4691-5p	CLIP-seq
MIRT1938098	hsa-miR-4775	CLIP-seq
MIRT1938099	hsa-miR-494	CLIP-seq
MIRT1938100	hsa-miR-590-3p	CLIP-seq
MIRT1938101	hsa-miR-629	CLIP-seq
MIRT1938086	hsa-miR-1827	CLIP-seq
MIRT1938087	hsa-miR-183	CLIP-seq
MIRT1938088	hsa-miR-2467-3p	CLIP-seq
MIRT1938089	hsa-miR-2682	CLIP-seq
MIRT1938091	hsa-miR-34a	CLIP-seq
MIRT1938092	hsa-miR-34c-5p	CLIP-seq
MIRT2177580	hsa-miR-4426	CLIP-seq
MIRT1938094	hsa-miR-449a	CLIP-seq
MIRT1938095	hsa-miR-449b	CLIP-seq
MIRT1938096	hsa-miR-449c	CLIP-seq
MIRT806292	hsa-miR-452	CLIP-seq
MIRT2177581	hsa-miR-4647	CLIP-seq
MIRT2177582	hsa-miR-4662b	CLIP-seq
MIRT806294	hsa-miR-4676-3p	CLIP-seq
MIRT1938099	hsa-miR-494	CLIP-seq
MIRT806269	hsa-miR-135a	CLIP-seq
MIRT806270	hsa-miR-135b	CLIP-seq
MIRT2444350	hsa-miR-1324	CLIP-seq
MIRT2444351	hsa-miR-383	CLIP-seq
MIRT2444352	hsa-miR-3914	CLIP-seq

Show/Hide all (31)

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, 32172343
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	25947375
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
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:0006869	Process	Lipid transport	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IDA	25947375
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031902	Component	Late endosome membrane	IDA	26567335
GO:0031902	Component	Late endosome membrane	IEA
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	NAS	21914794
GO:0046872	Function	Metal ion binding	IEA
GO:0097212	Process	Lysosomal membrane organization	IDA	32172343
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IBA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140345	Function	Phosphatidylcholine flippase activity	IDA	32172343
GO:0140351	Function	Glycosylceramide flippase activity	IDA	32172343
GO:0140351	Function	Glycosylceramide flippase activity	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IDA	25947375
GO:1990531	Component	Phospholipid-translocating ATPase complex	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	25947375

MIM	HGNC	e!Ensembl
619791	13543	ENSG00000118322

O94823

Protein name

Phospholipid-transporting ATPase VB (EC 7.6.2.1) (ATPase class V type 10B) (P4-ATPase flippase complex alpha subunit ATP10B)

Protein function

Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of lysosome membranes. Plays an important role in the maintenanc

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16209	PhoLip_ATPase_N	48 → 119	Phospholipid-translocating ATPase N-terminal	Family
PF13246	Cation_ATPase	680 → 801		Family
PF16212	PhoLip_ATPase_C	1081 → 1326	Phospholipid-translocating P-type ATPase C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in predominantly in brain structures including medulla oblongata, substantia nigra and basal ganglia. Expressed in the gastrointestinal system with highest levels in the small intestine and colon. Also expressed at low levels

Sequence

MALSVDSSWHRWQWRVRDGFPHCPSETTPLLSPEKGRQSYNLTQQRVVFPNNSIFHQDWE
EVSRRYPGNRTCTTKYTLFTFLPRNLFEQFHRWANLYFLFLVILNWMPSMEVFHREITML
PLAIVLFVIMIKDGMEDFKRHRFDKAINCSNIRIYERKEQTYVQKCWKDVRVGDFIQMKC
NEIVPADILLLFSSDPNGICHLETASLDGETNLKQRCVVKGFSQQEVQFEPELFHNTIVC
EKPNNHLNKFKGYMEHPDQTRTGFGCESLLLRGCTIRNTEMAVGIVIYAGHETKAMLNNS
GPRYKRSKIERRMNIDIFFCIGILILMCLIGAVGHSIWNGTFEEHPPFDVPDANGSFLPS
ALGGFYMFLTMIILLQVLIPISLYVSIELVKLGQVFFLSNDLDLYDEETDLSIQCRALNI
AEDLGQIQYIFSDKTGTLTENKMVFRRCTIMGSEYSHQENAKRLETPKELDSDGEEWTQY
QCLSFSARWAQDPATMRSQKGAQPLRRSQSARVPIQGHYRQRSMGHRESSQPPVAFSSSI
EKDVTPDKNLLTKVRDAALWLETLSDSRPAKASLSTTSSIADFFLALTICNSVMVSTTTE
PRQRVTIKPSSKALGTSLEKIQQLFQKLKLLSLSQSFSSTAPSDTDLGESLGANVATTDS
DERDDASVCSGGDSTDDGGYRSSMWDQGDILESGSGTSLEEALEAPATDLARPEFCYEAE
SPDEAALVHAAHAYSFTLVSRTPEQVTVRLPQGTCLTFSLLCTLGFDSVRKRMSVVVRHP
LTGEIVVYTKGADSVIMDLLEDPACVPDINMEKKLRKIRARTQKHLDLYARDGLRTLCIA
KKVVSEEDFRRWASFRREAEASLDNRDELLMETAQHLENQLTLLGATGIEDRLQEGVPDT
IATLREAGIQLWVLTGDKQETAVNIAHSCRLLNQTDTVYTINTENQETCESILNCALEEL
KQFRELQKPDRKLFGFRLPSKTPSITSEAVVPEAGLVIDGKTLNAIFQGKLEKKFLELTQ
YCRSVLCCRSTPLQKSMIVKLVRDKLRVMTLSIGDGANDVSMIQAADIGIGISGQEGMQA
VMSSDFAITRFKHLKKLLLVHGHWCYSRLARMVVYYLYKNVCYVNLLFWYQFFCGFSSST
MIDYWQMIFFNLFFTSLPPLVFGVLDKDISAETLLALPELYKSGQNSECYNLSTFWISMV
DAFYQSLICFFIPYLAYKGSDIDVFTFGTPINTISLTTILLHQAMEMKTWTIFHGVVLLG
SFLMYFLVSLLYNATCVICNSPTNPYWVMEGQLSNPTFYLVCFLTPVVALLPRYFFLSLQ
GTCGKSLISKAQKIDKLPPDKRNLEIQSWRSRQRPAPVPEVARPTHHPVSSITGQDFSAS
TPKSSNPPKRKHVEESVLHEQRCGTECMRDDSCSGDSSAQLSSGEHLLGPNRIMAYSRGQ
TDMCRCSKRSSHRRSQSSLTI

Sequence length

1461

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 (4)

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.
ATP10B-associated developmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
Lewy Body Disease	Lewy body disease	Pubtator	32172343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32172343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32777176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP10B (ATPase phospholipid transporting 10B (putative))