FXYD1: Difference between revisions

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Revision as of 04:59, 31 August 2017

Phospholemman is a protein that in humans is encoded by the FXYD1 gene.^[1]^[2]

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.^[2]

References

↑ 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.
↑ ^2.0 ^2.1 "Entrez Gene: FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman)".

Walaas SI, Czernik AJ, Olstad OK, et al. (1995). "Protein kinase C and cyclic AMP-dependent protein kinase phosphorylate phospholemman, an insulin and adrenaline-regulated membrane phosphoprotein, at specific sites in the carboxy terminal domain". Biochem. J. 304 (2): 635–40. PMC 1137538. PMID 7999001.
Neumann J, Maas R, Bokník P, et al. (1999). "Pharmacological characterization of protein phosphatase activities in preparations from failing human hearts". J. Pharmacol. Exp. Ther. 289 (1): 188–93. PMID 10087003.
Mounsey JP, John JE, Helmke SM, et al. (2000). "Phospholemman is a substrate for myotonic dystrophy protein kinase". J. Biol. Chem. 275 (30): 23362–7. doi:10.1074/jbc.M000899200. PMID 10811636.
Sweadner KJ, Rael E (2001). "The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression". Genomics. 68 (1): 41–56. doi:10.1006/geno.2000.6274. PMID 10950925.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Crowell KJ, Franzin CM, Koltay A, et al. (2003). "Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers". Biochim. Biophys. Acta. 1645 (1): 15–21. doi:10.1016/S1570-9639(02)00473-9. PMC 2917601. PMID 12535606.
Fuller W, Eaton P, Bell JR, Shattock MJ (2004). "Ischemia-induced phosphorylation of phospholemman directly activates rat cardiac Na/K-ATPase". FASEB J. 18 (1): 197–9. doi:10.1096/fj.03-0213fje. PMID 14597563.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Franzin CM, Yu J, Thai K, et al. (2006). "Correlation of gene and protein structures in the FXYD family proteins". J. Mol. Biol. 354 (4): 743–50. doi:10.1016/j.jmb.2005.10.018. PMC 2907130. PMID 16288923.
Wang J, Zhang XQ, Ahlers BA, et al. (2006). "Cytoplasmic tail of phospholemman interacts with the intracellular loop of the cardiac Na+/Ca2+ exchanger". J. Biol. Chem. 281 (42): 32004–14. doi:10.1074/jbc.M606876200. PMC 1613256. PMID 16921169.
Deng V, Matagne V, Banine F, et al. (2007). "FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice". Hum. Mol. Genet. 16 (6): 640–50. doi:10.1093/hmg/ddm007. PMID 17309881.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[pmid9169143-1] 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.

[entrez-2] 2.0 ^2.1 "Entrez Gene: FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman)".

[1]

[2]

@@ Line 1: / Line 1: @@
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+{{technical|date=April 2014}}
-{{PBB_Controls
+{{Infobox_gene}}
-| update_page = yes
+'''Phospholemman''' is a [[protein]] that in humans is encoded by the ''FXYD1'' [[gene]].<ref name="pmid9169143">{{cite journal |vauthors=Chen LS, Lo CF, Numann R, Cuddy M | title = Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1 | journal = Genomics | volume = 41 | issue = 3 | pages = 435–43 |date=Jul 1997 | pmid = 9169143 | pmc =  | doi = 10.1006/geno.1997.4665 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5348| accessdate = }}</ref>
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-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = FXYD domain containing ion transport regulator 1 (phospholemman)
- | HGNCid = 4025
- | Symbol = FXYD1
- | AltSymbols =; MGC44983; PLM
- | OMIM = 602359
- | ECnumber =
- | Homologene = 3691
- | MGIid = 1889273
- | GeneAtlas_image1 = PBB_GE_FXYD1_205384_at_tn.png
- | Function = {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005254 |text = chloride channel activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
-  | Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
- | Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006821 |text = chloride transport}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 5348
-    | Hs_Ensembl = ENSG00000126258
-    | Hs_RefseqProtein = NP_005022
-    | Hs_RefseqmRNA = NM_005031
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 19
-    | Hs_GenLoc_start = 40321572
-    | Hs_GenLoc_end = 40325793
-    | Hs_Uniprot = O00168
-    | Mm_EntrezGene = 56188
-    | Mm_Ensembl = ENSMUSG00000036570
-    | Mm_RefseqmRNA = NM_019503
-    | Mm_RefseqProtein = NP_062376
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 7
-    | Mm_GenLoc_start = 30760440
-    | Mm_GenLoc_end = 30764415
-    | Mm_Uniprot = Q9Z239
-  }}
-}}
-'''FXYD domain containing ion transport regulator 1 (phospholemman)''', also known as '''FXYD1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5348| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
-| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5348| accessdate = }}</ref>
+| summary_text = 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.<ref name="entrez"/>
 }}
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Walaas SI, Czernik AJ, Olstad OK, ''et al.'' |title=Protein kinase C and cyclic AMP-dependent protein kinase phosphorylate phospholemman, an insulin and adrenaline-regulated membrane phosphoprotein, at specific sites in the carboxy terminal domain. |journal=Biochem. J. |volume=304 ( Pt 2) |issue=  |pages= 635-40 |year= 1995 |pmid= 7999001 |doi=  }}
+*{{cite journal  |vauthors=Walaas SI, Czernik AJ, Olstad OK |title=Protein kinase C and cyclic AMP-dependent protein kinase phosphorylate phospholemman, an insulin and adrenaline-regulated membrane phosphoprotein, at specific sites in the carboxy terminal domain. |journal=Biochem. J. |volume=304 |issue=  2|pages= 635–40 |year= 1995 |pmid= 7999001 |doi=  | pmc=1137538  |display-authors=etal}}
-*{{cite journal  | author=Chen LS, Lo CF, Numann R, Cuddy M |title=Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1. |journal=Genomics |volume=41 |issue= 3 |pages= 435-43 |year= 1997 |pmid= 9169143 |doi= 10.1006/geno.1997.4665 }}
+*{{cite journal  |vauthors=Neumann J, Maas R, Bokník P |title=Pharmacological characterization of protein phosphatase activities in preparations from failing human hearts. |journal=J. Pharmacol. Exp. Ther. |volume=289 |issue= 1 |pages= 188–93 |year= 1999 |pmid= 10087003 |doi=  |display-authors=etal}}
-*{{cite journal  | author=Neumann J, Maas R, Bokník P, ''et al.'' |title=Pharmacological characterization of protein phosphatase activities in preparations from failing human hearts. |journal=J. Pharmacol. Exp. Ther. |volume=289 |issue= 1 |pages= 188-93 |year= 1999 |pmid= 10087003 |doi=  }}
+*{{cite journal  |vauthors=Mounsey JP, John JE, Helmke SM |title=Phospholemman is a substrate for myotonic dystrophy protein kinase. |journal=J. Biol. Chem. |volume=275 |issue= 30 |pages= 23362–7 |year= 2000 |pmid= 10811636 |doi= 10.1074/jbc.M000899200 |display-authors=etal}}
-*{{cite journal  | author=Mounsey JP, John JE, Helmke SM, ''et al.'' |title=Phospholemman is a substrate for myotonic dystrophy protein kinase. |journal=J. Biol. Chem. |volume=275 |issue= 30 |pages= 23362-7 |year= 2000 |pmid= 10811636 |doi= 10.1074/jbc.M000899200 }}
+*{{cite journal  |vauthors=Sweadner KJ, Rael E |title=The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. |journal=Genomics |volume=68 |issue= 1 |pages= 41–56 |year= 2001 |pmid= 10950925 |doi= 10.1006/geno.2000.6274 }}
-*{{cite journal  | author=Sweadner KJ, Rael E |title=The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. |journal=Genomics |volume=68 |issue= 1 |pages= 41-56 |year= 2001 |pmid= 10950925 |doi= 10.1006/geno.2000.6274 }}
+*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal}}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  |vauthors=Crowell KJ, Franzin CM, Koltay A |title=Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers. |journal=Biochim. Biophys. Acta |volume=1645 |issue= 1 |pages= 15–21 |year= 2003 |pmid= 12535606  | pmc=2917601 |doi=  10.1016/S1570-9639(02)00473-9|display-authors=etal}}
-*{{cite journal  | author=Crowell KJ, Franzin CM, Koltay A, ''et al.'' |title=Expression and characterization of the FXYD ion transport regulators for NMR structural studies in lipid micelles and lipid bilayers. |journal=Biochim. Biophys. Acta |volume=1645 |issue= 1 |pages= 15-21 |year= 2003 |pmid= 12535606 |doi=  }}
+*{{cite journal  |vauthors=Fuller W, Eaton P, Bell JR, Shattock MJ |title=Ischemia-induced phosphorylation of phospholemman directly activates rat cardiac Na/K-ATPase. |journal=FASEB J. |volume=18 |issue= 1 |pages= 197–9 |year= 2004 |pmid= 14597563 |doi= 10.1096/fj.03-0213fje }}
-*{{cite journal  | author=Fuller W, Eaton P, Bell JR, Shattock MJ |title=Ischemia-induced phosphorylation of phospholemman directly activates rat cardiac Na/K-ATPase. |journal=FASEB J. |volume=18 |issue= 1 |pages= 197-9 |year= 2004 |pmid= 14597563 |doi= 10.1096/fj.03-0213fje }}
+*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 |display-authors=etal}}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
+*{{cite journal  |vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal}}
-*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
+*{{cite journal  |vauthors=Franzin CM, Yu J, Thai K |title=Correlation of gene and protein structures in the FXYD family proteins. |journal=J. Mol. Biol. |volume=354 |issue= 4 |pages= 743–50 |year= 2006 |pmid= 16288923  | pmc=2907130 |doi= 10.1016/j.jmb.2005.10.018 |display-authors=etal}}
-*{{cite journal  | author=Franzin CM, Yu J, Thai K, ''et al.'' |title=Correlation of gene and protein structures in the FXYD family proteins. |journal=J. Mol. Biol. |volume=354 |issue= 4 |pages= 743-50 |year= 2006 |pmid= 16288923 |doi= 10.1016/j.jmb.2005.10.018 }}
+*{{cite journal  |vauthors=Wang J, Zhang XQ, Ahlers BA |title=Cytoplasmic tail of phospholemman interacts with the intracellular loop of the cardiac Na+/Ca2+ exchanger. |journal=J. Biol. Chem. |volume=281 |issue= 42 |pages= 32004–14 |year= 2006 |pmid= 16921169 |doi= 10.1074/jbc.M606876200  | pmc=1613256 |display-authors=etal}}
-*{{cite journal  | author=Wang J, Zhang XQ, Ahlers BA, ''et al.'' |title=Cytoplasmic tail of phospholemman interacts with the intracellular loop of the cardiac Na+/Ca2+ exchanger. |journal=J. Biol. Chem. |volume=281 |issue= 42 |pages= 32004-14 |year= 2006 |pmid= 16921169 |doi= 10.1074/jbc.M606876200 }}
+*{{cite journal  |vauthors=Deng V, Matagne V, Banine F |title=FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. |journal=Hum. Mol. Genet. |volume=16 |issue= 6 |pages= 640–50 |year= 2007 |pmid= 17309881 |doi= 10.1093/hmg/ddm007 |display-authors=etal}}
-*{{cite journal  | author=Deng V, Matagne V, Banine F, ''et al.'' |title=FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. |journal=Hum. Mol. Genet. |volume=16 |issue= 6 |pages= 640-50 |year= 2007 |pmid= 17309881 |doi= 10.1093/hmg/ddm007 }}
 }}
 {{refend}}
-{{protein-stub}}
+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
-{{WikiDoc Sources}}
+{{PBB_Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
+{{gene-19-stub}}

FXYD1: Difference between revisions

Revision as of 04:59, 31 August 2017

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