ATP8B4 (ATPase phospholipid transporting 8B4 (putative))

Gene

• Entrez ID: 79895
• Gene name: ATPase phospholipid transporting 8B4 (putative)
• Gene symbol: ATP8B4
• Synonyms (NCBI Gene): ATPIM
• Chromosome: 15
• Chromosome location: 15q21.2
• Summary: This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by Ref

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT573106	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT573105	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT573104	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT573103	hsa-miR-4499	PAR-CLIP	20371350
MIRT573101	hsa-miR-208a-5p	PAR-CLIP	20371350
MIRT573102	hsa-miR-208b-5p	PAR-CLIP	20371350
MIRT573100	hsa-miR-4494	PAR-CLIP	20371350
MIRT573099	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT573098	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT573097	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT573106	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT573105	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT573104	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT573103	hsa-miR-4499	PAR-CLIP	20371350
MIRT573101	hsa-miR-208a-5p	PAR-CLIP	20371350
MIRT573102	hsa-miR-208b-5p	PAR-CLIP	20371350
MIRT573100	hsa-miR-4494	PAR-CLIP	20371350
MIRT573099	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT573098	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT573097	hsa-miR-5585-3p	PAR-CLIP	20371350
MIRT809911	hsa-miR-1305	CLIP-seq
MIRT809912	hsa-miR-3129-3p	CLIP-seq
MIRT809913	hsa-miR-3609	CLIP-seq
MIRT809914	hsa-miR-3671	CLIP-seq
MIRT809915	hsa-miR-4735-5p	CLIP-seq
MIRT809916	hsa-miR-4762-5p	CLIP-seq
MIRT809917	hsa-miR-4766-5p	CLIP-seq
MIRT809918	hsa-miR-4775	CLIP-seq
MIRT809919	hsa-miR-518a-5p	CLIP-seq
MIRT809920	hsa-miR-520d-5p	CLIP-seq
MIRT809921	hsa-miR-524-5p	CLIP-seq
MIRT809922	hsa-miR-527	CLIP-seq
MIRT809923	hsa-miR-548ah	CLIP-seq
MIRT809924	hsa-miR-548t	CLIP-seq
MIRT809925	hsa-miR-561	CLIP-seq
MIRT809926	hsa-miR-590-3p	CLIP-seq
MIRT809927	hsa-miR-607	CLIP-seq
MIRT1939290	hsa-miR-124	CLIP-seq
MIRT1939291	hsa-miR-3153	CLIP-seq
MIRT1939292	hsa-miR-3919	CLIP-seq
MIRT1939293	hsa-miR-4330	CLIP-seq
MIRT1939294	hsa-miR-4668-5p	CLIP-seq
MIRT1939295	hsa-miR-4756-3p	CLIP-seq
MIRT1939296	hsa-miR-506	CLIP-seq
MIRT1939297	hsa-miR-627	CLIP-seq
MIRT1939298	hsa-miR-924	CLIP-seq
MIRT1939290	hsa-miR-124	CLIP-seq
MIRT1939292	hsa-miR-3919	CLIP-seq
MIRT1939293	hsa-miR-4330	CLIP-seq
MIRT2178536	hsa-miR-4666-5p	CLIP-seq
MIRT1939295	hsa-miR-4756-3p	CLIP-seq
MIRT1939296	hsa-miR-506	CLIP-seq
MIRT1939297	hsa-miR-627	CLIP-seq
MIRT1939298	hsa-miR-924	CLIP-seq
MIRT2482207	hsa-miR-101	CLIP-seq
MIRT2482208	hsa-miR-1261	CLIP-seq
MIRT2482209	hsa-miR-151-3p	CLIP-seq
MIRT2482210	hsa-miR-2355-3p	CLIP-seq
MIRT2482211	hsa-miR-3121-5p	CLIP-seq
MIRT2482212	hsa-miR-3140-3p	CLIP-seq
MIRT2482213	hsa-miR-3144-3p	CLIP-seq
MIRT1939291	hsa-miR-3153	CLIP-seq
MIRT2482214	hsa-miR-3163	CLIP-seq
MIRT2482215	hsa-miR-3189-3p	CLIP-seq
MIRT2482216	hsa-miR-3200-3p	CLIP-seq
MIRT2482217	hsa-miR-3201	CLIP-seq
MIRT2482218	hsa-miR-3662	CLIP-seq
MIRT2482219	hsa-miR-370	CLIP-seq
MIRT2482220	hsa-miR-3929	CLIP-seq
MIRT2482221	hsa-miR-4264	CLIP-seq
MIRT2482222	hsa-miR-4419b	CLIP-seq
MIRT2482223	hsa-miR-4453	CLIP-seq
MIRT2482224	hsa-miR-4463	CLIP-seq
MIRT2482225	hsa-miR-4478	CLIP-seq
MIRT2482226	hsa-miR-4538	CLIP-seq
MIRT2482227	hsa-miR-4646-3p	CLIP-seq
MIRT2178536	hsa-miR-4666-5p	CLIP-seq
MIRT1939294	hsa-miR-4668-5p	CLIP-seq
MIRT2482228	hsa-miR-4731-3p	CLIP-seq
MIRT809917	hsa-miR-4766-5p	CLIP-seq
MIRT2482229	hsa-miR-4774-5p	CLIP-seq
MIRT2482230	hsa-miR-4791	CLIP-seq
MIRT2482231	hsa-miR-4801	CLIP-seq
MIRT809919	hsa-miR-518a-5p	CLIP-seq
MIRT809922	hsa-miR-527	CLIP-seq
MIRT2482232	hsa-miR-539	CLIP-seq
MIRT2482233	hsa-miR-548c-3p	CLIP-seq
MIRT2482234	hsa-miR-548l	CLIP-seq
MIRT2482235	hsa-miR-548n	CLIP-seq
MIRT809924	hsa-miR-548t	CLIP-seq
MIRT809926	hsa-miR-590-3p	CLIP-seq
MIRT2482236	hsa-miR-600	CLIP-seq
MIRT2482237	hsa-miR-622	CLIP-seq
MIRT2482238	hsa-miR-634	CLIP-seq
MIRT2482239	hsa-miR-642b	CLIP-seq
MIRT2482240	hsa-miR-875-5p	CLIP-seq
MIRT2482241	hsa-miR-891b	CLIP-seq
MIRT2482207	hsa-miR-101	CLIP-seq
MIRT2675739	hsa-miR-1185	CLIP-seq
MIRT2482208	hsa-miR-1261	CLIP-seq
MIRT2482209	hsa-miR-151-3p	CLIP-seq
MIRT2482210	hsa-miR-2355-3p	CLIP-seq
MIRT2482211	hsa-miR-3121-5p	CLIP-seq
MIRT2482212	hsa-miR-3140-3p	CLIP-seq
MIRT2482213	hsa-miR-3144-3p	CLIP-seq
MIRT1939291	hsa-miR-3153	CLIP-seq
MIRT2675740	hsa-miR-3160-3p	CLIP-seq
MIRT2482215	hsa-miR-3189-3p	CLIP-seq
MIRT2482216	hsa-miR-3200-3p	CLIP-seq
MIRT2482217	hsa-miR-3201	CLIP-seq
MIRT2675741	hsa-miR-340	CLIP-seq
MIRT2675742	hsa-miR-3605-5p	CLIP-seq
MIRT2675743	hsa-miR-3613-3p	CLIP-seq
MIRT2482218	hsa-miR-3662	CLIP-seq
MIRT2675744	hsa-miR-3679-5p	CLIP-seq
MIRT2482219	hsa-miR-370	CLIP-seq
MIRT2482220	hsa-miR-3929	CLIP-seq
MIRT2482221	hsa-miR-4264	CLIP-seq
MIRT2675745	hsa-miR-4276	CLIP-seq
MIRT2675746	hsa-miR-4307	CLIP-seq
MIRT2482222	hsa-miR-4419b	CLIP-seq
MIRT2675747	hsa-miR-4452	CLIP-seq
MIRT2482223	hsa-miR-4453	CLIP-seq
MIRT2482224	hsa-miR-4463	CLIP-seq
MIRT2482225	hsa-miR-4478	CLIP-seq
MIRT2675748	hsa-miR-4487	CLIP-seq
MIRT2482226	hsa-miR-4538	CLIP-seq
MIRT2482227	hsa-miR-4646-3p	CLIP-seq
MIRT2675749	hsa-miR-4661-3p	CLIP-seq
MIRT2178536	hsa-miR-4666-5p	CLIP-seq
MIRT1939294	hsa-miR-4668-5p	CLIP-seq
MIRT809917	hsa-miR-4766-5p	CLIP-seq
MIRT2675750	hsa-miR-4772-3p	CLIP-seq
MIRT2482229	hsa-miR-4774-5p	CLIP-seq
MIRT2482230	hsa-miR-4791	CLIP-seq
MIRT2675751	hsa-miR-501-3p	CLIP-seq
MIRT2675752	hsa-miR-502-3p	CLIP-seq
MIRT2675753	hsa-miR-515-5p	CLIP-seq
MIRT809919	hsa-miR-518a-5p	CLIP-seq
MIRT809922	hsa-miR-527	CLIP-seq
MIRT2675754	hsa-miR-544b	CLIP-seq
MIRT2482234	hsa-miR-548l	CLIP-seq
MIRT2482235	hsa-miR-548n	CLIP-seq
MIRT809924	hsa-miR-548t	CLIP-seq
MIRT2675755	hsa-miR-558	CLIP-seq
MIRT809926	hsa-miR-590-3p	CLIP-seq
MIRT2482236	hsa-miR-600	CLIP-seq
MIRT2482237	hsa-miR-622	CLIP-seq
MIRT2482238	hsa-miR-634	CLIP-seq
MIRT2482239	hsa-miR-642b	CLIP-seq
MIRT2482240	hsa-miR-875-5p	CLIP-seq
MIRT2482241	hsa-miR-891b	CLIP-seq

Gene ontology (GO)

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
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	20947505
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
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:0007030	Process	Golgi organization	IBA
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:0035579	Component	Specific granule membrane	TAS
GO:0045332	Process	Phospholipid translocation	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
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	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	20961850

Other IDs

• MIM: 609123
• HGNC: 13536
• e!Ensembl: ENSG00000104043

Protein

• UniProt ID: Q8TF62
• Protein name: Probable phospholipid-transporting ATPase IM (EC 7.6.2.1) (ATPase class I type 8B member 4) (P4-ATPase flippase complex alpha subunit ATP8B4)
• Protein function: 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 distribution of pho
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16209	PhoLip_ATPase_N	15 → 81	Phospholipid-translocating ATPase N-terminal	Family
  PF13246	Cation_ATPase	472 → 571		Family
  PF16212	PhoLip_ATPase_C	841 → 1095	Phospholipid-translocating P-type ATPase C-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed at moderate levels.
• Sequence:

  MFCSEKKLREVERIVKANDREYNEKFQYADNRIHTSKYNILTFLPINLFEQFQRVANAYF
  LCLLILQLIPEISSLTWFTTIVPLVLVITMTAVKDATDDYFRHKSDNQVNNRQSEVLINS
  KLQNEKWMNVKVGDIIKLENNQFVAADLLLLSSSEPHGLCYVETAELDGETNLKVRHALS
  VTSELGADISRLAGFDGIVVCEVPNNKLDKFMGILSWKDSKHSLNNEKIILRGCILRNTS
  WCFGMVIFAGPDTKLMQNSGKTKFKRTSIDRLMNTLVLWIFGFLICLGIILAIGNSIWES
  QTGDQFRTFLFWNEGEKSSVFSGFLTFWSYIIILNTVVPISLYVSVEVIRLGHSYFINWD
  RKMYYSRKAIPAVARTTTLNEELGQIEYIFSDKTGTLTQNIMTFKRCSINGRIYGEVHDD
  LDQKTEITQEKEPVDFSVKSQADREFQFFDHHLMESIKMGDPKVHEFLRLLALCHTVMSE
  ENSAGELIYQVQSPDEGALVTAARNFGFIFKSRTPETITIEELGTLVTYQLLAFLDFNNT
  RKRMSVIVRNPEGQIKLYSKGADTILFEKLHPSNEVLLSLTSDHLSEFAGEGLRTLAIAY
  RDLDDKYFKEWHKMLEDANAATEERDERIAGLYEEIERDLMLLGATAVEDKLQEGVIETV
  TSLSLANIKIWVLTGDKQETAINIGYACNMLTDDMNDVFVIAGNNAVEVREELRKAKQNL
  FGQNRNFSNGHVVCEKKQQLELDSIVEETITGDYALIINGHSLAHALESDVKNDLLELAC
  MCKTVICCRVTPLQKAQVVELVKKYRNAVTLAIGDGANDVSMIKSAHIGVGISGQEGLQA
  VLASDYSFAQFRYLQRLLLVHGRWSYFRMCKFLCYFFYKNFAFTLVHFWFGFFCGFSAQT
  VYDQWFITLFNIVYTSLPVLAMGIFDQDVSDQNSVDCPQLYKPGQLNLLFNKRKFFICVL
  HGIYTSLVLFFIPYGAFYNVAGEDGQHIADYQSFAVTMATSLVIVVSVQIALDTSYWTFI
  NHVFIWGSIAIYFSILFTMHSNGIFGIFPNQFPFVGNARHSLTQKCIWLVILLTTVASVM
  PVVAFRFLKVDLYPTLSDQIRRWQKAQKKARPPSSRRPRTRRSSSRRSGYAFAHQEGYGE
  LITSGKNMRAKNPPPTSGLEKTHYNSTSWIENLCKKTTDTVSSFSQDKTVKL

• Sequence length: 1192

Pathways

Reactome:

Neutrophil degranulation
Ion transport by P-type ATPases

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36411364	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety disorder	Pubtator	36292569	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	26473621	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	26473621	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	26473621	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	29732714		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26473621, 29732714		★☆☆☆☆ Found in Text Mining only