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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FXYD1 Gene

protein-coding GIFtS: 51
GCID: GC19P035629

FXYD domain containing ion transport regulator 1

(Previous name: phospholemman )
(Previous symbol: PLM)

Explore 7 diseases affiliated with
FXYD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
FXYD Domain Containing Ion Transport Regulator 1¹ ²
PLM¹ ² ³ ⁵
Phospholemman¹
FXYD Domain-Containing Ion Transport Regulator 1³

External Ids:	HGNC: 4025¹	Entrez Gene: 5348²	Ensembl: ENSG00000266964⁷	OMIM: 602359⁵	UniProtKB: O00168³

Export aliases for FXYD1 gene to outside databases

Previous GC identifers: GC19P036247 GC19P036078 GC19P040305 GC19P040322 GC19P040323 GC19P040324 GC19P032137

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FXYD1:

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)

UniProtKB/Swiss-Prot: PLM_HUMAN, O00168

Function: May have a functional role in muscle contraction. Induces a hyperpolarization-activated chloride current when

exogenously expressed

Gene Wiki entry for FXYD1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FXYD1 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FXYD1 promoter sequence

Search SABiosciences Chromatin IP Primers for FXYD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FXYD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q13.1

FXYD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FXYD1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P035629: view genomic region (about GC identifiers)

Start:	35,629,712 bp from pter	End:	35,634,013 bp from pter
Size:	4,302 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PLM_HUMAN, O00168 (See protein sequence)

Recommended Name: Phospholemman precursor

Size: 92 amino acids; 10441 Da

Subcellular location: Membrane; Single-pass type I membrane protein

2 PDB 3D structures from and Proteopedia for FXYD1:

2J1I (3D)

2JO1 (3D)

Secondary accessions: A8K196

Explore the universe of human proteins at neXtProt for FXYD1: NX_O00168

Post-translational modifications:

Major plasma membrane substrate for cAMP-dependent protein kinase (PK-A) and protein kinase C (PK-C) in several

different tissues (By similarity). Phosphorylated in response to insulin and adrenergic stimulation. May be

phosphorylated by DMPK¹

Palmitoylation increases half-life and stability, it is enhanced upon phosphorylation at Ser-88 by PKA¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00168

FXYD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_005022.2 NP_068702.1

ENSEMBL proteins:

ENSP00000343314 ENSP00000466398 ENSP00000393611 ENSP00000465289 ENSP00000468535

ENSP00000467727 ENSP00000467818

Reactome Protein details: O00168
Human Recombinant Protein Products for FXYD1:

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	Uscn Proteins for FXYD1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	NAS	9169143
GO:0005887	integral to plasma membrane	TAS	9169143
GO:0034707	chloride channel complex	IEA	--

FXYD1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FXYD1 for domains About GeneDecksing

1 InterPro domain/family:

IPR000272 Ion-transport_regulator_FXYD

Graphical View of Domain Structure for InterPro Entry O00168

ProtoNet protein and cluster: O00168

1 Blocks protein family: IPB000272 FXYD protein

UniProtKB/Swiss-Prot: PLM_HUMAN, O00168

Similarity: Belongs to the FXYD family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PLM_HUMAN, O00168

Function: May have a functional role in muscle contraction. Induces a hyperpolarization-activated chloride current when

exogenously expressed

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005254	chloride channel activity	IEA	--
GO:0005515	protein binding	--	--

FXYD1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for FXYD1:

Increased cell number in S and

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Fxyd1):

cardiovascular system

muscle

FXYD1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Fxyd1^tm1Atck for FXYD1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FXYD1

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		hsa-miR-764
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FXYD1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Ion transport by P-type ATPases

0.32

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for FXYD1

	Transmembrane transport of small molecules
	Ion channel transport
	Ion transport by P-type ATPases

FXYD1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FXYD1

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for FXYD1 (O00168³ ENSP00000343314⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPAP2A	O14494³, ENSP00000264775⁴	I2D: score=2 STRING: ENSP00000264775
PRKACA	P17612³, ENSP00000309591⁴	I2D: score=2 STRING: ENSP00000309591
PAM	P19021³, ENSP00000306100⁴	I2D: score=1 STRING: ENSP00000306100
PPP1CA	P62136³, ENSP00000326031⁴	I2D: score=1 STRING: ENSP00000326031
DMPK	Q09013³, ENSP00000345997⁴	I2D: score=2 STRING: ENSP00000345997

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006821	chloride transport	TAS	9169143
GO:0006874	cellular calcium ion homeostasis	--	--
GO:0006936	muscle contraction	TAS	9169143

FXYD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FXYD1

2 HMDB Compounds for FXYD1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

Search CenterWatch for drugs/clinical trials and news about FXYD1 / PLM

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FXYD1 gene (2 alternative transcripts):

NM_005031.3 NM_021902.2

Unigene Cluster for FXYD1:

FXYD domain containing ion transport regulator 1

Hs.442498 [show with all ESTs]

Unigene Representative Sequence: AK124802

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000351325(uc002nyc.3) ENST00000592818 ENST00000589209 ENST00000455515(uc002nyd.3)

ENST00000588715 ENST00000588607 ENST00000587056 ENST00000588081 ENST00000589121

ENST00000590462

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		hsa-miR-764
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Additional cDNA sequence:

AK124802.1 AK289811.1 BC032800.2 GQ258667.1 U72245.1

12 DOTS entries:

DT.447153 DT.40310560 DT.121466335 DT.100769730 DT.100806544 DT.40132477 DT.75101773 DT.75102151

DT.95162756 DT.95281757 DT.95325929 DT.97815737

24/111 AceView cDNA sequences (see all 111):

NM_005031 BM663606 BC032800 NM_022006 BC018619 BQ445963 BM856555 AI199648

BM671752 AI086449 AW262746 CR598444 CR596488 CR617501 BM695523 BM673498

AJ573644 NM_021902 AI809210 AW297893 F33358 AI084856 BQ638990 CD171939

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FXYD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCAAGGCAG

About this image

FXYD1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Afferent Arteriole

Juxtaglomerular Cells

Kidney, Smooth Muscle

Ovary

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FXYD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FXYD1

SOURCE GeneReport for Unigene cluster: Hs.442498

UniProtKB/Swiss-Prot: PLM_HUMAN, O00168

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 without mucosa, prostate without endothelial lining, spleen, and testis

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FXYD1 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fxyd1^{1 , 5}	FXYD domain-containing ion transport regulator 1^{1, 5}	84.42(n)¹ 82.61(a)¹		7 (19.29 cM)⁵ 56188¹ NM_194321.2¹ NP_919302.1¹ 31051681⁵
lizard (Anolis carolinensis)	Reptilia	FXYD1⁶	--	67(a)	1 ↔ 1	GL343276.1(196397-204183)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.13949²	Transcribed sequence with weak similarity to protein more	72.73(n)		CF378162.1
zebrafish (Danio rerio)	Actinopterygii	fxyd6⁶	FXYD domain containing ion transport regulator 6	35(a)	1 → many	15(13143100-13188287)

ENSEMBL Gene Tree for FXYD1 (if available)
TreeFam Gene Tree for FXYD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FXYD1 gene

FXYD6² FXYD6-FXYD2²

5 SIMAP similar genes for FXYD1 using alignment to 3 protein entries: PLM_HUMAN (see all proteins):

FXYD7 FXYD2 FXYD3 FXYD6P3 FXYD6

FXYD1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115952691^1,2	F	--	35627783(+)	`CAACAT/CAGAGA`	2	--	us2k¹		1		WA	118
rs114351628^1,2		--	35627800(+)	`GACTGT/CACAAA`	2	--	us2k¹		1		WA	118
rs190007774^1,2		--	35627988(+)	`ATGAAA/GTTAAT`	2	--	us2k¹		0	--	--	--	--
rs73041987^1,2	C	--	35628261(+)	`GGTTTC/TGGAAT`	1	--	us2k¹		0	--	--	--	--
rs185670865^1,2		--	35628369(+)	`CTGCTC/TTTGTG`	1	--	us2k¹		0	--	--	--	--
rs191819947^1,2		--	35628389(+)	`GAGAGC/TGGCGG`	1	--	us2k¹		0	--	--	--	--
rs138576769^1,2		--	35628541(+)	`TGTTTC/TTGTTT`	2	--	us2k¹		0	--	--	--	--
rs141667985^1,2		--	35628612(+)	`TGCAAC/GCTCTG`	2	--	us2k¹		0	--	--	--	--
rs144336822^1,2		--	35628655(+)	`CCTCCA/GGAGTA`	2	--	us2k¹		0	--	--	--	--
rs148781762^1,2		--	35628756(+)	`TGTTGA/GACTCC`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FXYD1 (35629712 - 35634013 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FXYD1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FXYD1

DNA2.0 Custom Variant and Variant Library Synthesis for FXYD1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FXYD1 for disorders           About GeneDecksing

OMIM gene information: 602359    OMIM disorders: --

7 diseases for FXYD1:    About MalaCards

myotonic dystrophy root caries restless legs syndrome rett syndrome

ischemia malaria prostatitis

1 disease from the University of Copenhagen DISEASES database for FXYD1:

Sleep disorder

Export disorders for FXYD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FXYD1 gene, integrated from 9 sources (see all 31):
(articles sorted by number of sources associating them with FXYD1)

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Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1. (PubMed id 9169143)^{1, 2, 3} Chen L.-S.K.... Cuddy M. (1997)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Phospholemman is a substrate for myotonic dystrophy protein kinase. (PubMed id 10811636)^{1, 2} Mounsey J.P....Moorman J.R. (2000)
The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. (PubMed id 10950925)^{1, 2} Sweadner K.J. and Rael E. (2000)
Intracellular trafficking of FXYD1 (phospholemman) and FXYD7 proteins in Xenopus oocytes and mammalian cells. (PubMed id 22535957)¹ Moshitzky S....Garty H. (2012)
Influence of chronic and acute spinal cord injury on s keletal muscle Na+-K+-ATPase and phospholemman expression in humans. (PubMed id 22275761)¹ Boon H....Chibalin A.V. (2012)
Phospholemman-dependent regulation of the cardiac Na/K -ATPase activity is modulated by inhibitor-1 sensitive type-1 phosphatase. (PubMed id 21849407)¹ El-Armouche A....Pavlovic D. (2011)
The inhibitory effect of phospholemman on the sodium pump requires its palmitoylation. (PubMed id 21868384)² Tulloch L.B.... Fuller W. (2011)
A study of the membrane association and regulatory ef fect of the phospholemman cytoplasmic domain. (PubMed id 21130070)¹ Hughes E....Middleton D.A. (2011)
Protein kinase CI+ activity is important for contracti on-induced FXYD1 phosphorylation in skeletal muscle. (PubMed id 21957166)¹ Thomassen M....Nordsborg N.B. (2011)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5348	HGNC: 4025	AceView: FXYD1andFXYD7	Ensembl:ENSG00000266964	euGenes: HUgn5348
ECgene: FXYD1	H-InvDB: FXYD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FXYD1	Pharmacogenomics, SNPs, Pathways

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Patent Information for FXYD1 gene:
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FXYD1 Gene

FXYD domain containing ion transport regulator 1

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FXYD1 Gene

FXYD domain containing ion transport regulator 1

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