FXYD1 (FXYD domain containing ion transport regulator 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5348
Gene name Gene Name - the full gene name approved by the HGNC.
FXYD domain containing ion transport regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FXYD1
Synonyms (NCBI Gene) Gene synonyms aliases
PLM
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(57)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0005254 Function Chloride channel activity TAS 9169143
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 9169143
GO:0005890 Component Sodium:potassium-exchanging ATPase complex ISS
GO:0005901 Component Caveola ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602359 4025 ENSG00000266964
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 92
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  cAMP signaling pathway   Ion homeostasis
Ion transport by P-type ATPases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 12090816
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 22046305
Cardiomyopathies Stimulate 20090424
Colorectal Neoplasms Associate 21352556
Neoplasms Associate 21352556
Pulmonary Disease Chronic Obstructive Associate 27814717