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FXYD1

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(Redirected from FXYD1 (gene))
FXYD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFXYD1, PLM, FXYD domain containing ion transport regulator 1
External IDsOMIM: 602359; MGI: 1889273; HomoloGene: 3691; GeneCards: FXYD1; OMA:FXYD1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021902
NM_001278717
NM_001278718
NM_005031

NM_019503
NM_052991
NM_052992
NM_194321

RefSeq (protein)

NP_001265646
NP_001265647
NP_005022
NP_068702

NP_062376
NP_443717
NP_443718
NP_919302

Location (UCSC)Chr 19: 35.14 – 35.14 MbChr 7: 30.75 – 30.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phospholemman (PLM) is a protein that in humans is encoded by the FXYD1 gene.[5][6]

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.[6]

Function

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000266964Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036570Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Chen LS, Lo CF, Numann R, Cuddy M (Jul 1997). "Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1". Genomics. 41 (3): 435–43. doi:10.1006/geno.1997.4665. PMID 9169143.
  6. ^ a b "Entrez Gene: FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman)".

Further reading

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