LOCUS       NM_004252               1993 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens NHERF family PDZ scaffold protein 1 (NHERF1), mRNA.
ACCESSION   NM_004252
VERSION     NM_004252.5
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 1993)
  AUTHORS   Marini,F., Giusti,F., Marasco,E., Xumerle,L., Kwiatkowska,K.M.,
            Garagnani,P., Biver,E., Ferrari,S., Iolascon,G., Iantomasi,T. and
            Brandi,M.L.
  TITLE     High frequency of heterozygous rare variants of the SLC34A1 and
            SLC9A3R1 genes in patients with atypical femur fracture
  JOURNAL   Eur J Endocrinol 188 (1) (2023)
   PUBMED   36762943
  REMARK    GeneRIF: High frequency of heterozygous rare variants of the
            SLC34A1 and SLC9A3R1 genes in patients with atypical femur
            fracture.
REFERENCE   2  (bases 1 to 1993)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1993)
  AUTHORS   Friedman,P.A., Sneddon,W.B., Mamonova,T., Montanez-Miranda,C.,
            Ramineni,S., Harbin,N.H., Squires,K.E., Gefter,J.V., Magyar,C.E.,
            Emlet,D.R. and Hepler,J.R.
  TITLE     RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated renal
            phosphate uptake via binding to the NHERF1 scaffolding protein
  JOURNAL   J Biol Chem 298 (5), 101836 (2022)
   PUBMED   35307350
  REMARK    GeneRIF: RGS14 regulates PTH- and FGF23-sensitive NPT2A-mediated
            renal phosphate uptake via binding to the NHERF1 scaffolding
            protein.
REFERENCE   4  (bases 1 to 1993)
  AUTHORS   Khan,K., Long,B., Baleanu-Gogonea,C., Gogonea,V., Deshpande,G.M.,
            Vasu,K. and Fox,P.L.
  TITLE     Cotranslational interaction of human EBP50 and ezrin overcomes
            masked binding site during complex assembly
  JOURNAL   Proc Natl Acad Sci U S A 119 (7) (2022)
   PUBMED   35140182
  REMARK    GeneRIF: Cotranslational interaction of human EBP50 and ezrin
            overcomes masked binding site during complex assembly.
REFERENCE   5  (bases 1 to 1993)
  AUTHORS   Wang,S., Raab,R.W., Schatz,P.J., Guggino,W.B. and Li,M.
  TITLE     Peptide binding consensus of the NHE-RF-PDZ1 domain matches the
            C-terminal sequence of cystic fibrosis transmembrane conductance
            regulator (CFTR)
  JOURNAL   FEBS Lett 427 (1), 103-108 (1998)
   PUBMED   9613608
REFERENCE   6  (bases 1 to 1993)
  AUTHORS   Hall,R.A., Premont,R.T., Chow,C.W., Blitzer,J.T., Pitcher,J.A.,
            Claing,A., Stoffel,R.H., Barak,L.S., Shenolikar,S., Weinman,E.J.,
            Grinstein,S. and Lefkowitz,R.J.
  TITLE     The beta2-adrenergic receptor interacts with the Na+/H+-exchanger
            regulatory factor to control Na+/H+ exchange
  JOURNAL   Nature 392 (6676), 626-630 (1998)
   PUBMED   9560162
REFERENCE   7  (bases 1 to 1993)
  AUTHORS   Murthy,A., Gonzalez-Agosti,C., Cordero,E., Pinney,D., Candia,C.,
            Solomon,F., Gusella,J. and Ramesh,V.
  TITLE     NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common
            interactor for merlin and ERM (MERM) proteins
  JOURNAL   J Biol Chem 273 (3), 1273-1276 (1998)
   PUBMED   9430655
REFERENCE   8  (bases 1 to 1993)
  AUTHORS   Reczek,D., Berryman,M. and Bretscher,A.
  TITLE     Identification of EBP50: A PDZ-containing phosphoprotein that
            associates with members of the ezrin-radixin-moesin family
  JOURNAL   J Cell Biol 139 (1), 169-179 (1997)
   PUBMED   9314537
REFERENCE   9  (bases 1 to 1993)
  AUTHORS   Yun,C.H., Oh,S., Zizak,M., Steplock,D., Tsao,S., Tse,C.M.,
            Weinman,E.J. and Donowitz,M.
  TITLE     cAMP-mediated inhibition of the epithelial brush border Na+/H+
            exchanger, NHE3, requires an associated regulatory protein
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3010-3015 (1997)
   PUBMED   9096337
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1997 Sep 2;94(18):10006]
REFERENCE   10 (bases 1 to 1993)
  AUTHORS   Weinman,E.J., Steplock,D., Wang,Y. and Shenolikar,S.
  TITLE     Characterization of a protein cofactor that mediates protein kinase
            A regulation of the renal brush border membrane Na(+)-H+ exchanger
  JOURNAL   J Clin Invest 95 (5), 2143-2149 (1995)
   PUBMED   7738182
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX761192.1 and BC053350.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004252.4.
            
            Summary: This gene encodes a sodium/hydrogen exchanger regulatory
            cofactor. The protein interacts with and regulates various proteins
            including the cystic fibrosis transmembrane conductance regulator
            and G-protein coupled receptors such as the beta2-adrenergic
            receptor and the parathyroid hormone 1 receptor. The protein also
            interacts with proteins that function as linkers between integral
            membrane and cytoskeletal proteins. The protein localizes to
            actin-rich structures including membrane ruffles, microvilli, and
            filopodia. Mutations in this gene result in hypophosphatemic
            nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of
            this gene is implicated in breast cancer.[provided by RefSeq, Sep
            2009].
            
            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 :: SRR3476690.1081478.1,
                                           SRR3476690.1085605.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262613.10/ ENSP00000262613.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                CX761192.1         17-40
            25-1993             BC053350.1         1-1969
FEATURES             Location/Qualifiers
     source          1..1993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1993
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /note="NHERF family PDZ scaffold protein 1"
                     /db_xref="GeneID:9368"
                     /db_xref="HGNC:HGNC:11075"
                     /db_xref="MIM:604990"
     exon            1..660
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..1296
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /note="Na+/H+ exchange regulatory co-factor;
                     ezrin-radixin-moesin binding phosphoprotein-50; regulatory
                     cofactor of Na(+)/H(+) exchanger; SLC9A3 regulator 1;
                     solute carrier family 9, subfamily A (NHE3, cation proton
                     antiporter 3), member 3 regulator 1; Na(+)/H(+) exchange
                     regulatory cofactor 1"
                     /codon_start=1
                     /product="Na(+)/H(+) exchange regulatory cofactor NHE-RF1"
                     /protein_id="NP_004243.1"
                     /db_xref="CCDS:CCDS11705.1"
                     /db_xref="GeneID:9368"
                     /db_xref="HGNC:HGNC:11075"
                     /db_xref="MIM:604990"
                     /translation="MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEP
                     GSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIRAALNAVRLLVVDPETDEQLQKL
                     GVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKG
                     PSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSA
                     IRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEA
                     ALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERA
                     HQKRSSKRAPQMDWSKKNELFSNL"
     exon            661..822
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /inference="alignment:Splign:2.1.0"
     exon            823..976
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1017
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1107
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..1993
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1993
                     /gene="NHERF1"
                     /gene_synonym="EBP50; NHE-RF; NHERF; NHERF-1; NPHLOP2;
                     SLC9A3R1"
                     /note="major polyA site"
ORIGIN      
        1 agacgccgcg cggggcgggg attggtctgt ggtcctctct cggctcctcg cggctcgcgg
       61 cggccgacgg ttcctgggac acctgcttgc ttggcccgtc cggcggctca gggcttctct
      121 gctgcgctcc cggttcgctg gacgggaaga agggctgggc cgtcccgtcc cgtccccatc
      181 ggaaccccaa gtcgcgccgc tgacccgtcg cagggcgaga tgagcgcgga cgcagcggcc
      241 ggggcgcccc tgccccggct ctgctgcctg gagaagggtc cgaacggcta cggcttccac
      301 ctgcacgggg agaagggcaa gttgggccag tacatccggc tggtggagcc cggctcgccg
      361 gccgagaagg cggggctgct ggcgggggac cggctggtgg aggtgaacgg cgaaaacgtg
      421 gagaaggaga cccaccagca ggtggtgagc cgcatccgcg ccgcactcaa cgccgtgcgc
      481 ctgctggtgg tcgaccccga gacggacgag cagctgcaga agctcggcgt ccaggtccga
      541 gaggagctgc tgcgcgccca ggaagcgccg gggcaggccg agccgccggc cgccgccgag
      601 gtgcaggggg ctggcaacga aaatgagcct cgcgaggccg acaagagcca cccggagcag
      661 cgcgagcttc ggcctcggct ctgtaccatg aagaagggcc ccagtggcta tggcttcaac
      721 ctgcacagcg acaagtccaa gccaggccag ttcatccggt cagtggaccc agactccccg
      781 gctgaggctt cagggctccg ggcccaggat cgcattgtgg aggtgaacgg ggtctgcatg
      841 gaggggaagc agcatgggga cgtggtgtcc gccatcaggg ctggcgggga cgagaccaag
      901 ctgctggtgg tggacaggga aactgacgag ttcttcaaga aatgcagagt gatcccatct
      961 caggagcacc tgaatggtcc cctgcctgtg cccttcacca atggggagat acagaaggag
     1021 aacagtcgtg aagccctggc agaggcagcc ttggagagcc ccaggccagc cctggtgaga
     1081 tccgcctcca gtgacaccag cgaggagctg aattcccaag acagcccccc aaaacaggac
     1141 tccacagcgc cctcgtctac ctcctcctcc gaccccatcc tagacttcaa catctccctg
     1201 gccatggcca aagagagggc ccaccagaaa cgcagcagca aacgggcccc gcagatggac
     1261 tggagcaaga aaaacgaact cttcagcaac ctctgagcgc cctgctgcca cccagtgact
     1321 ggcagggccg agccagcatt ccaccccacc tttttccttc tccccaatta ctcccctgaa
     1381 tcaatgtaca aatcagcacc cacatcccct ttcttgacaa atgatttttc tagagaacta
     1441 tgttcttccc tgactttagg gaaggtgaat gtgttcccgt cctcccgcag tcagaaagga
     1501 gactctgcct ccctcctcct cactgagtgc ctcatcctac cgggtgtccc tttgccaccc
     1561 tgcctgggac atcgctggaa cctgcaccat gccaggatca tgggaccagg cgagagggca
     1621 ccctcccttc ctcccccatg tgataaatgg gtccagggct gatcaaagaa ctctgactgc
     1681 agaactgccg ctctcagtgg acagggcatc tgttaccctg agacctgtgg cagacacgtc
     1741 ttgttttcat ttgatttttg ttaagagtgc agtattgcag agtctagagg aatttttgtt
     1801 tccttgatta acatgatttt cctggttgtt acatccaggg catggcagtg gcctcagcct
     1861 taaacttttg ttcctactcc caccctcagc gaactgggca gcacggggag ggtttggcta
     1921 cccctgccca tccctgagcc aggtaccacc attgtaagga aacactttca gaaattcagc
     1981 tggttcctcc aaa
//
