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	10396
Gene name	ATPase phospholipid transporting 8A1
Gene symbol	ATP8A1
Synonyms (NCBI Gene)	ATPASEIIATPIAATPP2
Chromosome	4
Chromosome location	4p13
Summary	The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyz

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018577	hsa-miR-335-5p	Microarray	18185580
MIRT022068	hsa-miR-128-3p	Microarray	17612493
MIRT025194	hsa-miR-181a-5p	Sequencing	20371350
MIRT809688	hsa-miR-1273g	CLIP-seq
MIRT809689	hsa-miR-1283	CLIP-seq
MIRT809690	hsa-miR-129-5p	CLIP-seq
MIRT809691	hsa-miR-1303	CLIP-seq
MIRT809692	hsa-miR-192	CLIP-seq
MIRT809693	hsa-miR-2113	CLIP-seq
MIRT809694	hsa-miR-215	CLIP-seq
MIRT809695	hsa-miR-3160-5p	CLIP-seq
MIRT809696	hsa-miR-3689a-3p	CLIP-seq
MIRT809697	hsa-miR-3689c	CLIP-seq
MIRT809698	hsa-miR-3689d	CLIP-seq
MIRT809699	hsa-miR-4666-3p	CLIP-seq
MIRT809700	hsa-miR-4681	CLIP-seq
MIRT809701	hsa-miR-4728-5p	CLIP-seq
MIRT809702	hsa-miR-4729	CLIP-seq
MIRT809703	hsa-miR-4775	CLIP-seq
MIRT809704	hsa-miR-520d-5p	CLIP-seq
MIRT809705	hsa-miR-520g	CLIP-seq
MIRT809706	hsa-miR-520h	CLIP-seq
MIRT809707	hsa-miR-524-5p	CLIP-seq
MIRT809708	hsa-miR-590-3p	CLIP-seq
MIRT809709	hsa-miR-591	CLIP-seq
MIRT809710	hsa-miR-622	CLIP-seq
MIRT809711	hsa-miR-197	CLIP-seq
MIRT809712	hsa-miR-3120-3p	CLIP-seq
MIRT809696	hsa-miR-3689a-3p	CLIP-seq
MIRT809697	hsa-miR-3689c	CLIP-seq
MIRT809698	hsa-miR-3689d	CLIP-seq
MIRT809713	hsa-miR-3942-5p	CLIP-seq
MIRT809714	hsa-miR-4646-5p	CLIP-seq
MIRT809700	hsa-miR-4681	CLIP-seq
MIRT809715	hsa-miR-4703-5p	CLIP-seq
MIRT809701	hsa-miR-4728-5p	CLIP-seq
MIRT809716	hsa-miR-4747-5p	CLIP-seq
MIRT809717	hsa-miR-561	CLIP-seq
MIRT809718	hsa-miR-587	CLIP-seq
MIRT809719	hsa-miR-885-5p	CLIP-seq
MIRT1939198	hsa-miR-1229	CLIP-seq
MIRT1939199	hsa-miR-141	CLIP-seq
MIRT1939200	hsa-miR-200a	CLIP-seq
MIRT1939201	hsa-miR-217	CLIP-seq
MIRT1939202	hsa-miR-3119	CLIP-seq
MIRT809712	hsa-miR-3120-3p	CLIP-seq
MIRT1939203	hsa-miR-3140-3p	CLIP-seq
MIRT1939204	hsa-miR-3545-3p	CLIP-seq
MIRT1939205	hsa-miR-3691-3p	CLIP-seq
MIRT1939206	hsa-miR-4282	CLIP-seq
MIRT1939207	hsa-miR-4311	CLIP-seq
MIRT1939208	hsa-miR-4418	CLIP-seq
MIRT1939209	hsa-miR-4699-5p	CLIP-seq
MIRT809702	hsa-miR-4729	CLIP-seq
MIRT1939210	hsa-miR-509-3-5p	CLIP-seq
MIRT1939211	hsa-miR-509-5p	CLIP-seq
MIRT1939212	hsa-miR-513b	CLIP-seq
MIRT1939213	hsa-miR-548an	CLIP-seq
MIRT2178307	hsa-miR-101	CLIP-seq
MIRT2178308	hsa-miR-1273f	CLIP-seq
MIRT1939199	hsa-miR-141	CLIP-seq
MIRT2178309	hsa-miR-144	CLIP-seq
MIRT2178310	hsa-miR-181a	CLIP-seq
MIRT2178311	hsa-miR-181b	CLIP-seq
MIRT2178312	hsa-miR-181c	CLIP-seq
MIRT2178313	hsa-miR-181d	CLIP-seq
MIRT809711	hsa-miR-197	CLIP-seq
MIRT1939200	hsa-miR-200a	CLIP-seq
MIRT2178314	hsa-miR-4262	CLIP-seq
MIRT2178315	hsa-miR-4269	CLIP-seq
MIRT2178316	hsa-miR-4278	CLIP-seq
MIRT1939206	hsa-miR-4282	CLIP-seq
MIRT1939207	hsa-miR-4311	CLIP-seq
MIRT2178317	hsa-miR-4422	CLIP-seq
MIRT2178318	hsa-miR-4514	CLIP-seq
MIRT2178319	hsa-miR-4692	CLIP-seq
MIRT2178320	hsa-miR-4694-5p	CLIP-seq
MIRT2178321	hsa-miR-4704-3p	CLIP-seq
MIRT2178322	hsa-miR-4716-3p	CLIP-seq
MIRT2178323	hsa-miR-4742-5p	CLIP-seq
MIRT2178324	hsa-miR-4753-5p	CLIP-seq
MIRT809703	hsa-miR-4775	CLIP-seq
MIRT2178325	hsa-miR-486-3p	CLIP-seq
MIRT2178326	hsa-miR-5096	CLIP-seq
MIRT1939212	hsa-miR-513b	CLIP-seq
MIRT2178327	hsa-miR-582-5p	CLIP-seq
MIRT809708	hsa-miR-590-3p	CLIP-seq
MIRT2178328	hsa-miR-600	CLIP-seq
MIRT809710	hsa-miR-622	CLIP-seq
MIRT2178329	hsa-miR-892a	CLIP-seq
MIRT2384637	hsa-miR-4768-5p	CLIP-seq
MIRT2444467	hsa-miR-185	CLIP-seq
MIRT2444468	hsa-miR-3129-3p	CLIP-seq
MIRT2444469	hsa-miR-4306	CLIP-seq
MIRT2444470	hsa-miR-4461	CLIP-seq
MIRT2444471	hsa-miR-4490	CLIP-seq
MIRT2444472	hsa-miR-4521	CLIP-seq
MIRT2444473	hsa-miR-4644	CLIP-seq
MIRT2444474	hsa-miR-4777-5p	CLIP-seq
MIRT2444475	hsa-miR-539	CLIP-seq
MIRT2444476	hsa-miR-580	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:0005515	Function	Protein binding	IPI	20947505, 20961850, 21914794, 31416931
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	21914794
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	20947505
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20947505, 20961850
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0007612	Process	Learning	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	NAS	10198212
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031090	Component	Organelle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0035579	Component	Specific granule membrane	TAS
GO:0042584	Component	Chromaffin granule membrane	IEA
GO:0045202	Component	Synapse	IEA
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	NAS	21914794
GO:0046872	Function	Metal ion binding	IEA
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0061092	Process	Positive regulation of phospholipid translocation	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090556	Function	Phosphatidylserine floppase activity	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099503	Component	Secretory vesicle	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	IDA	31416931
GO:0140331	Process	Aminophospholipid translocation	IEA
GO:0140331	Process	Aminophospholipid translocation	ISS
GO:0140346	Function	Phosphatidylserine flippase activity	IDA	31416931
GO:0140346	Function	Phosphatidylserine flippase activity	IEA
GO:0140346	Function	Phosphatidylserine flippase activity	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1990531	Component	Phospholipid-translocating ATPase complex	IDA	31416931
GO:1990531	Component	Phospholipid-translocating ATPase complex	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	20961850, 31416931

MIM	HGNC	e!Ensembl
609542	13531	ENSG00000124406

Q9Y2Q0

Protein name

Phospholipid-transporting ATPase IA (EC 7.6.2.1) (ATPase class I type 8A member 1) (Chromaffin granule ATPase II) (P4-ATPase flippase complex alpha subunit ATP8A1)

Protein function

Catalytic component of a P4-ATPase flippase complex 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 distribut

PDB

6K7G , 6K7H , 6K7I , 6K7J , 6K7K , 6K7L , 6K7M , 6K7N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16209	PhoLip_ATPase_N	35 → 102	Phospholipid-translocating ATPase N-terminal	Family
PF00122	E1-E2_ATPase	129 → 369		Family
PF13246	Cation_ATPase	484 → 585		Family
PF16212	PhoLip_ATPase_C	827 → 1079	Phospholipid-translocating P-type ATPase C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Found in most adult tissues except liver, testis and placenta. Most abundant in heart, brain and skeletal muscle. Also detected in fetal tissues. Isoform 1 is only detected in brain, skeletal muscle and heart and is the most abundant f

Sequence

MPTMRRTVSEIRSRAEGYEKTDDVSEKTSLADQEEVRTIFINQPQLTKFCNNHVSTAKYN
IITFLPRFLYSQFRRAANSFFLFIALLQQIPDVSPTGRYTTLVPLLFILAVAAIKEIIED
IKRHKADNAVNKKQTQVLRNGAWEIVHWEKVAVGEIVKVTNGEHLPADLISLSSSEPQAM
CYIETSNLDGETNLKIRQGLPATSDIKDVDSLMRISGRIECESPNRHLYDFVGNIRLDGH
GTVPLGADQILLRGAQLRNTQWVHGIVVYTGHDTKLMQNSTSPPLKLSNVERITNVQILI
LFCILIAMSLVCSVGSAIWNRRHSGKDWYLNLNYGGASNFGLNFLTFIILFNNLIPISLL
VTLEVVKFTQAYFINWDLDMHYEPTDTAAMARTSNLNEELGQVKYIFSDKTGTLTCNVMQ
FKKCTIAGVAYGHVPEPEDYGCSPDEWQNSQFGDEKTFSDSSLLENLQNNHPTAPIICEF
LTMMAVCHTAVPEREGDKIIYQAASPDEGALVRAAKQLNFVFTGRTPDSVIIDSLGQEER
YELLNVLEFTSARKRMSVIVRTPSGKLRLYCKGADTVIYDRLAETSKYKEITLKHLEQFA
TEGLRTLCFAVAEISESDFQEWRAVYQRASTSVQNRLLKLEESYELIEKNLQLLGATAIE
DKLQDQVPETIETLMKADIKIWILTGDKQETAINIGHSCKLLKKNMGMIVINEGSLDGTR
ETLSRHCTTLGDALRKENDFALIIDGKTLKYALTFGVRQYFLDLALSCKAVICCRVSPLQ
KSEVVEMVKKQVKVVTLAIGDGANDVSMIQTAHVGVGISGNEGLQAANSSDYSIAQFKYL
KNLLMIHGAWNYNRVSKCILYCFYKNIVLYIIEIWFAFVNGFSGQILFERWCIGLYNVMF
TAMPPLTLGIFERSCRKENMLKYPELYKTSQNALDFNTKVFWVHCLNGLFHSVILFWFPL
KALQYGTAFGNGKTSDYLLLGNFVYTFVVITVCLKAGLETSYWTWFSHIAIWGSIALWVV
FFGIYSSLWPAIPMAPDMSGEAAMLFSSGVFWMGLLFIPVASLLLDVVYKVIKRTAFKTL
VDEVQELEAKSQDPGAVVLGKSLTERAQLLKNVFKKNHVNLYRSESLQQNLLHGYAFSQD
ENGIVSQSEVIRAYDTTKQRPDEW

Sequence length

1164

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		Neutrophil degranulation 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 (3)

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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Angelman Syndrome	Angelman Syndrome	BEFREE	11326269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30607218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	27287255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29965997, 37957190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	20512993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12105293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26415732		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP8A1 (ATPase phospholipid transporting 8A1)