Version 5.4
Homo sapiens Gene: FXYD1
Summary
InnateDB Gene IDBG-730319.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FXYD1
Gene Name FXYD domain containing ion transport regulator 1
Synonyms PLM
Species Homo sapiens
Ensembl Gene ENSG00000266964
Encoded Proteins
IDBP-43588
FXYD domain containing ion transport regulator 1
IDBP-377660
FXYD domain containing ion transport regulator 1
IDBP-760483
IDBP-763949
IDBP-761409
IDBP-762055
IDBP-764110
IDBP-812069
FXYD domain containing ion transport regulator 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]
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 for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5\' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:35138808-35143109
Strand Forward strand
Band q13.12
Transcripts
ENST00000351325 ENSP00000343314
ENST00000455515 ENSP00000393611
ENST00000587056
ENST00000589209 ENSP00000466398
ENST00000588715 ENSP00000465289
ENST00000588081 ENSP00000467727
ENST00000590462
ENST00000592818
ENST00000589121 ENSP00000467818
ENST00000588607 ENSP00000468535
ENST00000612146 ENSP00000481244
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005254 chloride channel activity
GO:0005515 protein binding
Biological Process
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0006874 cellular calcium ion homeostasis
GO:0006936 muscle contraction
GO:0034220 ion transmembrane transport
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0034707 chloride channel complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000036570
View Gene Order
ENSBTAG00000017816
Not yet available
Pathways
NETPATH
REACTOME
REACT_25149
Ion transport by P-type ATPases pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001278717 NM_001278718 NM_005031 NM_021902 XM_005258991
HUGO
OMIM
CCDS CCDS12445
HPRD 03837
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca