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	5348
Gene name	FXYD domain containing ion transport regulator 1
Gene symbol	FXYD1
Synonyms (NCBI Gene)	PLM
Chromosome	19
Chromosome location	19q13.12
Summary	This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature f

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miRTarBase ID	miRNA	Experiments	Reference
MIRT488775	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT488774	hsa-miR-6786-5p	PAR-CLIP	23592263
MIRT488773	hsa-miR-3179	PAR-CLIP	23592263
MIRT488772	hsa-miR-3665	PAR-CLIP	23592263
MIRT488771	hsa-miR-658	PAR-CLIP	23592263
MIRT488770	hsa-miR-3960	PAR-CLIP	23592263
MIRT488768	hsa-miR-8072	PAR-CLIP	23592263
MIRT488769	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT488767	hsa-miR-3202	PAR-CLIP	23592263
MIRT488766	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT488765	hsa-miR-4467	PAR-CLIP	23592263
MIRT488764	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT488763	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT488762	hsa-miR-3178	PAR-CLIP	23592263
MIRT488761	hsa-miR-4271	PAR-CLIP	23592263
MIRT488759	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT488760	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT488758	hsa-miR-3180	PAR-CLIP	23592263
MIRT488757	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT488756	hsa-miR-3196	PAR-CLIP	23592263
MIRT488755	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT488754	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT488753	hsa-miR-4488	PAR-CLIP	23592263
MIRT488752	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT488751	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT488750	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT488749	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT488748	hsa-miR-2110	PAR-CLIP	23592263
MIRT488775	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT488774	hsa-miR-6786-5p	PAR-CLIP	23592263
MIRT488773	hsa-miR-3179	PAR-CLIP	23592263
MIRT488772	hsa-miR-3665	PAR-CLIP	23592263
MIRT488771	hsa-miR-658	PAR-CLIP	23592263
MIRT488770	hsa-miR-3960	PAR-CLIP	23592263
MIRT488768	hsa-miR-8072	PAR-CLIP	23592263
MIRT488769	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT488767	hsa-miR-3202	PAR-CLIP	23592263
MIRT488766	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT488765	hsa-miR-4467	PAR-CLIP	23592263
MIRT488764	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT488763	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT488762	hsa-miR-3178	PAR-CLIP	23592263
MIRT488761	hsa-miR-4271	PAR-CLIP	23592263
MIRT488759	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT488760	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT488758	hsa-miR-3180	PAR-CLIP	23592263
MIRT488757	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT488756	hsa-miR-3196	PAR-CLIP	23592263
MIRT488755	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT488754	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT488753	hsa-miR-4488	PAR-CLIP	23592263
MIRT488752	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT488751	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT488750	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT488749	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT488748	hsa-miR-2110	PAR-CLIP	23592263
MIRT1007428	hsa-miR-541	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	TAS	9169143
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	9169143
GO:0005886	Component	Plasma membrane	TAS	9169143
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	ISS
GO:0005901	Component	Caveola	IEA
GO:0005901	Component	Caveola	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006821	Process	Chloride transport	TAS	9169143
GO:0006936	Process	Muscle contraction	TAS	9169143
GO:0008016	Process	Regulation of heart contraction	TAS	19683723
GO:0010734	Process	Negative regulation of protein glutathionylation	ISS
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0017080	Function	Sodium channel regulator activity	IEA
GO:0017080	Function	Sodium channel regulator activity	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0043269	Process	Regulation of monoatomic ion transport	IEA
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	IEA
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	ISS
GO:0099106	Function	Ion channel regulator activity	IEA
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1903278	Process	Positive regulation of sodium ion export across plasma membrane	IBA
GO:1903278	Process	Positive regulation of sodium ion export across plasma membrane	IEA
GO:1903278	Process	Positive regulation of sodium ion export across plasma membrane	ISS

MIM	HGNC	e!Ensembl
602359	4025	ENSG00000266964

O00168

Protein name

Phospholemman (FXYD domain-containing ion transport regulator 1) (Sodium/potassium-transporting ATPase subunit FXYD1)

Protein function

Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphor

PDB

2JO1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02038	ATP1G1_PLM_MAT8	24 → 70	ATP1G1/PLM/MAT8 family	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in skeletal muscle and heart. Moderate levels in brain, placenta, lung, liver, pancreas, uterus, bladder, prostate, small intestine and colon with mucosal lining. Very low levels in kidney, colon and small intestine

Sequence

MASLGHILVFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIAGILFILGILIVLSRRC
RCKFNQQQRTGEPDEEEGTFRSSIRRLSTRRR

Sequence length

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway		Ion homeostasis 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 (1)

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.
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	22046305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	30386899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30165515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	20090424	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29982243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21352556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21352556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23224879, 30554649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24039836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30660720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23224879, 30554649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	30386899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	28912873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	BEFREE	28912873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	24039836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	29526759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31609696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29302923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	27814717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	BEFREE	28464758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	26410457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	30243181, 31609696, 31727918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	17309881, 17584923, 29902467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	LHGDN	17309881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12090816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12090816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	28822017, 31609696		★★★★★ ★☆☆☆☆ Found in Text Mining only

FXYD1 (FXYD domain containing ion transport regulator 1)