LOCUS       NP_071289                 80 aa            linear   PRI 29-APR-2025
DEFINITION  FXYD domain-containing ion transport regulator 7 [Homo sapiens].
ACCESSION   NP_071289
VERSION     NP_071289.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 80)
  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  (residues 1 to 80)
  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  (residues 1 to 80)
  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  (residues 1 to 80)
  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  (residues 1 to 80)
  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  (residues 1 to 80)
  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  (residues 1 to 80)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..80
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     Protein         1..80
                     /product="FXYD domain-containing ion transport regulator
                     7"
                     /calculated_mol_wt=8393
     Site            3
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) threonine.
                     /evidence=ECO:0000250|UniProtKB:P59648; propagated from
                     UniProtKB/Swiss-Prot (P58549.1)"
     Site            5
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) threonine.
                     /evidence=ECO:0000250|UniProtKB:P59648; propagated from
                     UniProtKB/Swiss-Prot (P58549.1)"
     Site            9
                     /site_type="glycosylation"
                     /note="O-linked (GlcNAc) threonine.
                     /evidence=ECO:0000250|UniProtKB:P59648; propagated from
                     UniProtKB/Swiss-Prot (P58549.1)"
     Region          12..62
                     /region_name="FXYD7"
                     /note="FXYD domain-containing ion transport regulator 7;
                     cd20325"
                     /db_xref="CDD:410561"
     Region          17..51
                     /region_name="FXYD domain"
     Site            order(18,20,22,25..26,29..30,32..33,36,39..41,43..44,46)
                     /site_type="other"
                     /note="putative trimer interface [polypeptide binding]"
                     /db_xref="CDD:410561"
     Site            24..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P58549.1)"
     Region          54..80
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P58549.1)"
     Site            73
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59649; propagated from
                     UniProtKB/Swiss-Prot (P58549.1)"
     CDS             1..80
                     /gene="FXYD7"
                     /coded_by="NM_022006.2:80..322"
                     /db_xref="CCDS:CCDS12446.1"
                     /db_xref="GeneID:53822"
                     /db_xref="HGNC:HGNC:4034"
                     /db_xref="MIM:606684"
ORIGIN      
        1 matptqtptk apeepdpfyy dyntvqtvgm tlatilfllg iliviskkvk crkadsrses
       61 ptckscksel pssapggggv
//
