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FXYD1 (FXYD domain containing ion transport regulator 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5348
Gene nameGene Name - the full gene name approved by the HGNC.
FXYD domain containing ion transport regulator 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FXYD1
SynonymsGene synonyms aliases
PLM
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MASLGHILVFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIAGILFILGILIVLSRRC
RCKFNQQQRT
GEPDEEEGTFRSSIRRLSTRRR
Sequence length 92
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  cAMP signaling pathway   Ion homeostasis
Ion transport by P-type ATPases
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 12090816

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