LOCUS       NM_021902                576 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens FXYD domain containing ion transport regulator 1
            (FXYD1), transcript variant b, mRNA.
ACCESSION   NM_021902
VERSION     NM_021902.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 576)
  AUTHORS   Jin,M., Zhang,H., Yang,J., Zheng,Z. and Liu,K.
  TITLE     Expression mode and prognostic value of FXYD family members in
            colon cancer
  JOURNAL   Aging (Albany NY) 13 (14), 18404-18422 (2021)
   PUBMED   34270462
  REMARK    GeneRIF: Expression mode and prognostic value of FXYD family
            members in colon cancer.
REFERENCE   2  (bases 1 to 576)
  AUTHORS   Meyer,D.J., Bijlani,S., de Sautu,M., Spontarelli,K., Young,V.C.,
            Gatto,C. and Artigas,P.
  TITLE     FXYD protein isoforms differentially modulate human Na/K pump
            function
  JOURNAL   J Gen Physiol 152 (12) (2020)
   PUBMED   33231612
  REMARK    GeneRIF: FXYD protein isoforms differentially modulate human Na/K
            pump function.
REFERENCE   3  (bases 1 to 576)
  AUTHORS   Christiansen,D., Murphy,R.M., Bangsbo,J., Stathis,C.G. and
            Bishop,D.J.
  TITLE     Increased FXYD1 and PGC-1alpha mRNA after blood flow-restricted
            running is related to fibre type-specific AMPK signalling and
            oxidative stress in human muscle
  JOURNAL   Acta Physiol (Oxf) 223 (2), e13045 (2018)
   PUBMED   29383885
  REMARK    GeneRIF: Blood flow restriction augmented exercise-induced
            increases in muscle FXYD1 and PGC-1alpha mRNA in men
REFERENCE   4  (bases 1 to 576)
  AUTHORS   Thomassen,M., Gunnarsson,T.P., Christensen,P.M., Pavlovic,D.,
            Shattock,M.J. and Bangsbo,J.
  TITLE     Intensive training and reduced volume increases muscle FXYD1
            expression and phosphorylation at rest and during exercise in
            athletes
  JOURNAL   Am J Physiol Regul Integr Comp Physiol 310 (7), R659-R669 (2016)
   PUBMED   26791827
  REMARK    GeneRIF: a period of high-intensity training with reduced training
            volume increases expression and phosphorylation levels of FXYD1,
            which may affect Na(+)/K(+) pump activity and muscle K(+)
            homeostasis during intense exercise.
REFERENCE   5  (bases 1 to 576)
  AUTHORS   Mishra,N.K., Habeck,M., Kirchner,C., Haviv,H., Peleg,Y.,
            Eisenstein,M., Apell,H.J. and Karlish,S.J.
  TITLE     Molecular Mechanisms and Kinetic Effects of FXYD1 and
            Phosphomimetic Mutants on Purified Human Na,K-ATPase
  JOURNAL   J Biol Chem 290 (48), 28746-28759 (2015)
   PUBMED   26429909
  REMARK    GeneRIF: Stopped-flow experiments using the dye RH421 show that
            FXYD1 slows the conformational transition E2(2K)ATP --> E1(3Na)ATP
            but does not affect 3NaE1P --> E2P3Na.
REFERENCE   6  (bases 1 to 576)
  AUTHORS   Sweadner,K.J. and Rael,E.
  TITLE     The FXYD gene family of small ion transport regulators or channels:
            cDNA sequence, protein signature sequence, and expression
  JOURNAL   Genomics 68 (1), 41-56 (2000)
   PUBMED   10950925
REFERENCE   7  (bases 1 to 576)
  AUTHORS   Mounsey,J.P., John,J.E. 3rd, Helmke,S.M., Bush,E.W., Gilbert,J.,
            Roses,A.D., Perryman,M.B., Jones,L.R. and Moorman,J.R.
  TITLE     Phospholemman is a substrate for myotonic dystrophy protein kinase
  JOURNAL   J Biol Chem 275 (30), 23362-23367 (2000)
   PUBMED   10811636
REFERENCE   8  (bases 1 to 576)
  AUTHORS   Neumann,J., Maas,R., Boknik,P., Jones,L.R., Zimmermann,N. and
            Scholz,H.
  TITLE     Pharmacological characterization of protein phosphatase activities
            in preparations from failing human hearts
  JOURNAL   J Pharmacol Exp Ther 289 (1), 188-193 (1999)
   PUBMED   10087003
REFERENCE   9  (bases 1 to 576)
  AUTHORS   Chen,L.S., Lo,C.F., Numann,R. and 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 41 (3), 435-443 (1997)
   PUBMED   9169143
REFERENCE   10 (bases 1 to 576)
  AUTHORS   Walaas,S.I., Czernik,A.J., Olstad,O.K., Sletten,K. and Walaas,O.
  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 304 (Pt 2) (Pt 2), 635-640 (1994)
   PUBMED   7999001
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Kathleen Sweadner. The reference sequence was
            derived from HY151101.1, BC032800.2, BM691130.1 and AC020907.6.
            
            On Jun 2, 2019 this sequence version replaced NM_021902.3.
            
            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].
            
            Transcript Variant: This variant (b) differs in the 5' UTR compared
            to variant a. Variants a, b, c and d encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289811.1, DA236407.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000351325.9/ ENSP00000343314.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-355               HY151101.1         25-379
            356-517             BC032800.2         285-446
            518-522             BM691130.1         520-524
            523-576             AC020907.6         156559-156612
FEATURES             Location/Qualifiers
     source          1..576
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..576
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /note="FXYD domain containing ion transport regulator 1"
                     /db_xref="GeneID:5348"
                     /db_xref="HGNC:HGNC:4025"
                     /db_xref="MIM:602359"
     exon            1..71
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     exon            72..136
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..354
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /note="phospholemman; sodium/potassium-transporting ATPase
                     subunit FXYD1"
                     /codon_start=1
                     /product="phospholemman precursor"
                     /protein_id="NP_068702.1"
                     /db_xref="CCDS:CCDS12445.1"
                     /db_xref="GeneID:5348"
                     /db_xref="HGNC:HGNC:4025"
                     /db_xref="MIM:602359"
                     /translation="MASLGHILVFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIA
                     GILFILGILIVLSRRCRCKFNQQQRTGEPDEEEGTFRSSIRRLSTRRR"
     exon            137..169
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     exon            170..244
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     exon            245..281
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     exon            282..331
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     exon            332..383
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     exon            384..576
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      495..500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /note="hexamer: AATAAA"
     polyA_site      519
                     /gene="FXYD1"
                     /gene_synonym="PLM"
                     /note="major polyA site"
ORIGIN      
        1 aaagtgctca gcccccgggg cacagcagga cgtttggggg ccttctttca gcaggggaca
       61 gcccgattgg ggacaatggc gtctcttggc cacatcttgg ttttctgtgt gggtctcctc
      121 accatggcca aggcagaaag tccaaaggaa cacgacccgt tcacttacga ctaccagtcc
      181 ctgcagatcg gaggcctcgt catcgccggg atcctcttca tcctgggcat cctcatcgtg
      241 ctgagcagaa gatgccggtg caagttcaac cagcagcaga ggactgggga acccgatgaa
      301 gaggagggaa ctttccgcag ctccatccgc cgtctgtcca cccgcaggcg gtagaaacac
      361 ctggagcgat ggaatccggc caggactccc ctggcacctg acatctccca cgctccacct
      421 gcgcgcccac cgccccctcc gccgcccctt ccccagccct gcccccgcag actccccctg
      481 ccgccaagac ttccaataaa acgtgcgttc ctctcgacag cactttgtcg gtctcggtcc
      541 ctcagcgcga aacgccagcg ccactgggcc ccagca
//
