LOCUS       NM_173160                779 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens FXYD domain containing ion transport regulator 4
            (FXYD4), transcript variant 1, mRNA.
ACCESSION   NM_173160
VERSION     NM_173160.3
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 779)
  AUTHORS   Lee,J.H., Cheng,R., Honig,L.S., Feitosa,M., Kammerer,C.M.,
            Kang,M.S., Schupf,N., Lin,S.J., Sanders,J.L., Bae,H., Druley,T.,
            Perls,T., Christensen,K., Province,M. and Mayeux,R.
  TITLE     Genome wide association and linkage analyses identified three
            loci-4q25, 17q23.2, and 10q11.21-associated with variation in
            leukocyte telomere length: the Long Life Family Study
  JOURNAL   Front Genet 4, 310 (2014)
   PUBMED   24478790
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 779)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   3  (bases 1 to 779)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   4  (bases 1 to 779)
  AUTHORS   Sweadner,K.J., Arystarkhova,E., Donnet,C. and Wetzel,R.K.
  TITLE     FXYD proteins as regulators of the Na,K-ATPase in the kidney
  JOURNAL   Ann N Y Acad Sci 986, 382-387 (2003)
   PUBMED   12763854
REFERENCE   5  (bases 1 to 779)
  AUTHORS   Crowell,K.J., Franzin,C.M., Koltay,A., Lee,S., Lucchese,A.M.,
            Snyder,B.C. and Marassi,F.M.
  TITLE     Expression and characterization of the FXYD ion transport
            regulators for NMR structural studies in lipid micelles and lipid
            bilayers
  JOURNAL   Biochim Biophys Acta 1645 (1), 15-21 (2003)
   PUBMED   12535606
  REMARK    GeneRIF: molecular cloning, protein expression, sequencing and NMR
            structure determination
REFERENCE   6  (bases 1 to 779)
  AUTHORS   Garty,H., Lindzen,M., Scanzano,R., Aizman,R., Fuzesi,M.,
            Goldshleger,R., Farman,N., Blostein,R. and Karlish,S.J.
  TITLE     A functional interaction between CHIF and Na-K-ATPase: implication
            for regulation by FXYD proteins
  JOURNAL   Am J Physiol Renal Physiol 283 (4), F607-F615 (2002)
   PUBMED   12217851
  REMARK    GeneRIF: CHIF can act as tissue-specific modulators of Na-K-ATPase
REFERENCE   7  (bases 1 to 779)
  AUTHORS   Beguin,P., Crambert,G., Guennoun,S., Garty,H., Horisberger,J.D. and
            Geering,K.
  TITLE     CHIF, a member of the FXYD protein family, is a regulator of
            Na,K-ATPase distinct from the gamma-subunit
  JOURNAL   EMBO J 20 (15), 3993-4002 (2001)
   PUBMED   11483503
REFERENCE   8  (bases 1 to 779)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Kathleen Sweadner. The reference sequence was
            derived from AL512654.9, BC054876.1 and AA759244.1.
            
            On Nov 23, 2018 this sequence version replaced NM_173160.2.
            
            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.
            FXYD4, originally named CHIF for channel-inducing factor, has been
            shown to modulate the properties of the Na,K-ATPase, as has FXYD2,
            also known as the gamma subunit of the Na,K-ATPase, and FXYD7.
            Transmembrane topology has been established for FXYD4 and two
            family members (FXYD1 and FXYD2), with the N-terminus extracellular
            and the C-terminus on the cytoplasmic side of the membrane.
            Alternatively spliced transcript variants encoding the same protein
            have been found.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) is the longer transcript.
            Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279833.1702.1, BC054876.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476166.6/ ENSP00000473361.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AL512654.9         12478-12485
            9-731               BC054876.1         7-729
            732-779             AA759244.1         4-51                c
FEATURES             Location/Qualifiers
     source          1..779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.21"
     gene            1..779
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /note="FXYD domain containing ion transport regulator 4"
                     /db_xref="GeneID:53828"
                     /db_xref="HGNC:HGNC:4028"
                     /db_xref="MIM:616926"
     exon            1..62
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     exon            63..108
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     exon            109..377
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     CDS             341..610
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /note="channel-inducing factor"
                     /codon_start=1
                     /product="FXYD domain-containing ion transport regulator 4
                     precursor"
                     /protein_id="NP_775183.1"
                     /db_xref="CCDS:CCDS7203.1"
                     /db_xref="GeneID:53828"
                     /db_xref="HGNC:HGNC:4028"
                     /db_xref="MIM:616926"
                     /translation="MERVTLALLLLAGLTALEANDPFANKDDPFYYDWKNLQLSGLIC
                     GGLLAIAGIAAVLSGKCKCKSSQKQHSPVPEKAIPLITPGSATTC"
     exon            378..410
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     exon            411..437
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     exon            438..512
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     exon            513..552
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     exon            553..590
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     exon            591..779
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      755..760
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /note="hexamer: ATTAAA"
     polyA_site      779
                     /gene="FXYD4"
                     /gene_synonym="CHIF"
                     /note="major polyA site"
ORIGIN      
        1 ctcctcagat ccgttctctg cgctgccagc tcaggtgagc cctcgccaag gtgacctcgc
       61 aggacactgg tgaaggagca gtgaggaacc tgcagagtca cacagttggc caccaccatc
      121 tctagatggg aagacagaaa gtagttactt tcccaagatc tccccacaag caagtgtatc
      181 cttggggttt gtacacctac tttcaccatg gggctctgcc tgcccccgcc cctgcctcct
      241 ctcgctgacc aattgagctg tgagcctgga gcagatccgt gggctgcaga cccccgcccc
      301 agtgcctctc cccctgcagc cctgcccctc gaactgtgac atggagagag tgaccctggc
      361 ccttctccta ctggcaggcc tgactgcctt ggaagccaat gacccatttg ccaataaaga
      421 cgatcccttc tactatgact ggaaaaacct gcagctgagc ggactgatct gcggagggct
      481 cctggccatt gctgggatcg cggcagttct gagtggcaaa tgcaaatgca agagcagcca
      541 gaagcagcac agtcctgtac ctgagaaggc catcccactc atcactccag gctctgccac
      601 tacttgctga gcacaggact ggcctccagg gatggcctga agcctaacac tggcccccag
      661 cacctcctcc cctgggaggc cttatcctca aggaaggact tctctccaag ggcaggctgt
      721 taggcccctt tctgatcagg aggcttcttt atgaattaaa ctcgccccac caccccctc
//
