LOCUS       NM_022006                708 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens FXYD domain containing ion transport regulator 7
            (FXYD7), mRNA.
ACCESSION   NM_022006
VERSION     NM_022006.2
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 708)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 708)
  AUTHORS   Moshitzky,S., Asher,C. and Garty,H.
  TITLE     Intracellular trafficking of FXYD1 (phospholemman) and FXYD7
            proteins in Xenopus oocytes and mammalian cells
  JOURNAL   J Biol Chem 287 (25), 21130-21141 (2012)
   PUBMED   22535957
  REMARK    GeneRIF: Intracellular trafficking of FXYD1 (phospholemman) and
            FXYD7 proteins in Xenopus oocytes and mammalian cells.
REFERENCE   3  (bases 1 to 708)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 708)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 708)
  AUTHORS   Beguin,P., Crambert,G., Monnet-Tschudi,F., Uldry,M.,
            Horisberger,J.D., Garty,H. and Geering,K.
  TITLE     FXYD7 is a brain-specific regulator of Na,K-ATPase alpha 1-beta
            isozymes
  JOURNAL   EMBO J 21 (13), 3264-3273 (2002)
   PUBMED   12093728
REFERENCE   6  (bases 1 to 708)
  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 708)
  AUTHORS   Gale,M. Jr., Blakely,C.M., Hopkins,D.A., Melville,M.W., Wambach,M.,
            Romano,P.R. and Katze,M.G.
  TITLE     Regulation of interferon-induced protein kinase PKR: modulation of
            P58IPK inhibitory function by a novel protein, P52rIPK
  JOURNAL   Mol Cell Biol 18 (2), 859-871 (1998)
   PUBMED   9447982
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Kathleen Sweadner. The reference sequence was
            derived from AC020907.6.
            
            On Jun 2, 2019 this sequence version replaced NM_022006.1.
            
            Summary: This reference sequence was derived from multiple
            replicate ESTs and validated by similar human genomic sequence.
            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.
            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. 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. This
            gene product, FXYD7, is novel and has not been characterized as a
            protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D.,
            sweadner@helix.mgh.harvard.edu., Dec 2000].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018619.1, SRR7410570.653308.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270310.7/ ENSP00000270310.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AC020907.6         156758-156867
            111-140             AC020907.6         162196-162225
            141-215             AC020907.6         164756-164830
            216-258             AC020907.6         164942-164984
            259-299             AC020907.6         165135-165175
            300-708             AC020907.6         167396-167804
FEATURES             Location/Qualifiers
     source          1..708
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..708
                     /gene="FXYD7"
                     /note="FXYD domain containing ion transport regulator 7"
                     /db_xref="GeneID:53822"
                     /db_xref="HGNC:HGNC:4034"
                     /db_xref="MIM:606684"
     exon            1..110
                     /gene="FXYD7"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..322
                     /gene="FXYD7"
                     /codon_start=1
                     /product="FXYD domain-containing ion transport regulator
                     7"
                     /protein_id="NP_071289.1"
                     /db_xref="CCDS:CCDS12446.1"
                     /db_xref="GeneID:53822"
                     /db_xref="HGNC:HGNC:4034"
                     /db_xref="MIM:606684"
                     /translation="MATPTQTPTKAPEEPDPFYYDYNTVQTVGMTLATILFLLGILIV
                     ISKKVKCRKADSRSESPTCKSCKSELPSSAPGGGGV"
     exon            111..140
                     /gene="FXYD7"
                     /inference="alignment:Splign:2.1.0"
     exon            141..215
                     /gene="FXYD7"
                     /inference="alignment:Splign:2.1.0"
     exon            216..258
                     /gene="FXYD7"
                     /inference="alignment:Splign:2.1.0"
     exon            259..299
                     /gene="FXYD7"
                     /inference="alignment:Splign:2.1.0"
     exon            300..708
                     /gene="FXYD7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      680..685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXYD7"
                     /note="hexamer: AATAAA"
     polyA_site      708
                     /gene="FXYD7"
                     /note="major polyA site"
ORIGIN      
        1 catcggtccg tcctgcttcc agctgctgca gcgcgccttc gccgccaaag catccagcag
       61 ccccctgctc cggcccagca tggcgacccc gacccagacc cccacaaagg ctcctgagga
      121 acctgaccca ttttactatg actacaacac ggtgcagact gtgggcatga ctctggcaac
      181 catcttgttc ctgctgggta tcctcatcgt catcagcaag aaggtgaagt gcaggaaggc
      241 ggactccagg tctgagagcc caacctgcaa atcctgtaag tctgagcttc cctcttcagc
      301 ccctggtggc ggcggcgtgt aacaccttcc cgaggaaact ccgctgccga ccctgcctga
      361 gcgcgggagc ctgaggaccg ggtggaggcg gtggggaccc agccgcgcgc cgggagcgct
      421 ccccggaatg agccgcccca cccaccccaa ggctggagcc gctgcaccct gctgtccctc
      481 tccaggcctt ggcaatgacg atcccccaaa gagcccgtct gcaccccaga cccagggcct
      541 caggcctcca gctcctggga tccgggagtc catcccggcc cagcaccccc agcatccccg
      601 tgtatggccc ccctgcacct ccttgtctca tccccgaaga tccgtccccc tggcccctca
      661 gtgtccatgt cttgagctta ataaatgtgc atttggtttt ttcctctg
//
