LOCUS       NM_022003               1678 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens FXYD domain containing ion transport regulator 6
            (FXYD6), transcript variant 1, mRNA.
ACCESSION   NM_022003
VERSION     NM_022003.4
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 1678)
  AUTHORS   Hou,W., Cai,J., Shen,P., Zhang,S., Xiao,S., You,P., Tong,Y., Li,K.,
            Qi,Z. and Luo,H.
  TITLE     Identification of FXYD6 as the novel biomarker for glioma based on
            differential expression and DNA methylation
  JOURNAL   Cancer Med 12 (24), 22170-22184 (2023)
   PUBMED   38093622
  REMARK    GeneRIF: Identification of FXYD6 as the novel biomarker for glioma
            based on differential expression and DNA methylation.
REFERENCE   2  (bases 1 to 1678)
  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 1678)
  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   4  (bases 1 to 1678)
  AUTHORS   Li,Z.M., Zhang,H.Y., Wang,Y.X. and Wang,W.B.
  TITLE     MicroRNA-137 is downregulated in human osteosarcoma and regulates
            cell proliferation and migration through targeting FXYD6
  JOURNAL   J Drug Target 24 (2), 102-110 (2016)
   PUBMED   26302771
  REMARK    GeneRIF: FXYD6 was verified to be directly interacting with
            miR-137..
REFERENCE   5  (bases 1 to 1678)
  AUTHORS   Gao,Q., Chen,X., Duan,H., Wang,Z., Feng,J., Yang,D., Song,L.,
            Zhou,N. and Yan,X.
  TITLE     FXYD6: a novel therapeutic target toward hepatocellular carcinoma
  JOURNAL   Protein Cell 5 (7), 532-543 (2014)
   PUBMED   24715268
  REMARK    GeneRIF: FXYD6 plays a critical role of in hepatocellular carcinoma
            disease progression.
REFERENCE   6  (bases 1 to 1678)
  AUTHORS   Iwata,Y., Yamada,K., Iwayama,Y., Anitha,A., Thanseem,I., Toyota,T.,
            Hattori,E., Ohnishi,T., Maekawa,M., Nakamura,K., Suzuki,K.,
            Matsuzaki,H., Tsuchiya,K.J., Suda,S., Sugihara,G., Takebayashi,K.,
            Yamamoto,S., Iwata,K., Mori,N. and Yoshikawa,T.
  TITLE     Failure to confirm genetic association of the FXYD6 gene with
            schizophrenia: the Japanese population and meta-analysis
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 153B (6), 1221-1227 (2010)
   PUBMED   20468077
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1678)
  AUTHORS   Zhang,J., Che,R., Li,X., Tang,W., Zhao,Q., Tang,R., Wang,Y.,
            Zhang,Z., Ji,J., Yang,F., Shi,Y., Ji,W., Zhou,G., Feng,G., He,L.
            and He,G.
  TITLE     No association between the FXYD6 gene and schizophrenia in the
            Chinese Han population
  JOURNAL   J Psychiatr Res 44 (6), 409-412 (2010)
   PUBMED   20149392
  REMARK    GeneRIF: Data show that FXYD6 does not play a role in schizophrenia
            in the Chinese Han population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1678)
  AUTHORS   Ito,Y., Nakamura,Y., Takahashi,N., Saito,S., Aleksic,B., Iwata,N.,
            Inada,T. and Ozaki,N.
  TITLE     A genetic association study of the FXYD domain containing ion
            transport regulator 6 (FXYD6) gene, encoding phosphohippolin, in
            susceptibility to schizophrenia in a Japanese population
  JOURNAL   Neurosci Lett 438 (1), 70-75 (2008)
   PUBMED   18455306
  REMARK    GeneRIF: Our findings suggest that FXYD6 is unlikely to be related
            to the development of schizophrenia in a Japanese population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1678)
  AUTHORS   Choudhury,K., McQuillin,A., Puri,V., Pimm,J., Datta,S.,
            Thirumalai,S., Krasucki,R., Lawrence,J., Bass,N.J., Quested,D.,
            Crombie,C., Fraser,G., Walker,N., Nadeem,H., Johnson,S., Curtis,D.,
            St Clair,D. and Gurling,H.M.
  TITLE     A genetic association study of chromosome 11q22-24 in two different
            samples implicates the FXYD6 gene, encoding phosphohippolin, in
            susceptibility to schizophrenia
  JOURNAL   Am J Hum Genet 80 (4), 664-672 (2007)
   PUBMED   17357072
  REMARK    GeneRIF: Base-pair changes in FXYD6 or in associated
            promoter/control regions are likely to cause abnormal function or
            expression of phosphohippolin and to increase genetic
            susceptibility to schizophrenia.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1678)
  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 AK290757.1, AK289629.1, AL832811.1 and AP000757.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_022003.3.
            
            Summary: This gene encodes a member of the FXYD family of
            transmembrane proteins. This particular protein encodes
            phosphohippolin, which likely affects the activity of Na,K-ATPase.
            Multiple alternatively spliced transcript variants encoding the
            same protein have been described. Related pseudogenes have been
            identified on chromosomes 10 and X. Read-through transcripts have
            been observed between this locus and the downstream
            sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID
            486) locus.[provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the functional
            protein. All variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR3476690.227798.1,
                                           SRR3476690.366540.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000526014.6/ ENSP00000433312.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AK290757.1         76-92
            18-347              AK289629.1         331-660
            348-615             AL832811.1         414-681
            616-1678            AP000757.4         81411-82473         c
FEATURES             Location/Qualifiers
     source          1..1678
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..1678
                     /gene="FXYD6"
                     /note="FXYD domain containing ion transport regulator 6"
                     /db_xref="GeneID:53826"
                     /db_xref="HGNC:HGNC:4030"
                     /db_xref="MIM:606683"
     exon            1..67
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     exon            68..130
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..360
                     /gene="FXYD6"
                     /note="phosphohippolin"
                     /codon_start=1
                     /product="FXYD domain-containing ion transport regulator 6
                     precursor"
                     /protein_id="NP_071286.1"
                     /db_xref="CCDS:CCDS8387.1"
                     /db_xref="GeneID:53826"
                     /db_xref="HGNC:HGNC:4030"
                     /db_xref="MIM:606683"
                     /translation="MELVLVFLCSLLAPMVLASAAEKEKEMDPFHYDYQTLRIGGLVF
                     AVVLFSVGILLILSRRCKCSFNQKPRAPGDEEAQVENLITANATEPQKAEN"
     exon            131..169
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     exon            170..244
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     exon            245..281
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     exon            282..331
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     exon            332..381
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     exon            382..1678
                     /gene="FXYD6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1656..1661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FXYD6"
                     /note="hexamer: AATAAA"
     polyA_site      1678
                     /gene="FXYD6"
                     /note="major polyA site"
ORIGIN      
        1 gccactccca ggctcctcgg gactcggcgg gtcctcctgg gagtctcgga ggggaccggc
       61 tgtgcagacg ccatggagtt ggtgctggtc ttcctctgca gcctgctggc ccccatggtc
      121 ctggccagtg cagctgaaaa ggagaaggaa atggaccctt ttcattatga ttaccagacc
      181 ctgaggattg ggggactggt gttcgctgtg gtcctcttct cggttgggat cctccttatc
      241 ctaagtcgca ggtgcaagtg cagtttcaat cagaagcccc gggccccagg agatgaggaa
      301 gcccaggtgg agaacctcat caccgccaat gcaacagagc cccagaaagc agagaactga
      361 agtgcagcca tcaggtggaa gcctctggaa cctgaggcgg ctgcttgaac ctttggatgc
      421 aaatgtcgat gcttaagaaa accggccact tcagcaacag ccctttcccc aggagaagcc
      481 aagaacttgt gtgtccccca ccctatcccc tctaacacca ttcctccacc tgatgatgca
      541 actaacactt gcctccccac tgcagcctgc ggtcctgccc acctcccgtg atgtgtgtgt
      601 gtgtgtgtgt gtgtgtgact gtgtgtgttt gctaactgtg gtctttgtgg ctacttgttt
      661 gtggatggta ttgtgtttgt tagtgaactg tggactcgct ttcccaggca ggggctgagc
      721 cacatggcca tctgctcctc cctgcccccg tggccctcca tcaccttctg ctcctaggag
      781 gctgcttgtt gcccgagacc agccccctcc cctgatttag ggatgcgtag ggtaagagca
      841 cgggcagtgg tcttcagtcg tcttgggacc tgggaaggtt tgcagcactt tgtcatcatt
      901 cttcatggac tcctttcact cctttaacaa aaaccttgct tccttatccc acctgatccc
      961 agtctgaagg tctcttagca actggagata caaagcaagg agctggtgag cccagcgttg
     1021 acgtcaggca ggctatgccc ttccgtggtt aatttcttcc caggggcttc cacgaggagt
     1081 ccccatctgc cccgcccctt cacagagcgc ccggggattc caggcccagg gcttctactc
     1141 tgcccctggg gaatgtgtcc cctgcatatc ttctcagcaa taactccatg ggctctggga
     1201 ccctacccct tccaaccttc cctgcttctg agacttcaat ctacagccca gctcatccag
     1261 atgcagacta cagtccctgc aattgggtct ctggcaggca atagttgaag gactcctgtt
     1321 ccgttggggc cagcacaccg ggatggatgg agggagagca gaggcctttg cttctctgcc
     1381 tacgtcccct tagatgggca gcagaggcaa ctcccgcatc ctttgctctg cctgtcagtg
     1441 gtcagagcgg tgagcgaggt gggttggaga ctcagcaggc tccgtgcagc ccttgggaac
     1501 agtgagaggt tgaaggtcat aacgagagtg ggaactcaac ccagatcccg cccctcctgt
     1561 cctctgtgtt cccgcggaaa ccaaccaaac cgtgcgctgt gacccattgc tgttctctgt
     1621 atcgtgatct atcctcaaca acaacagaaa aaaggaataa aatatccttt gtttccta
//
