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Homo sapiens SLC9A3 regulator 2 (SLC9A3R2), transcript variant 2, mRNA

NCBI Reference Sequence: NM_004785.5

FASTA Graphics 

LOCUS       NM_004785               2161 bp    mRNA    linear   PRI 23-SEP-2018
DEFINITION  Homo sapiens SLC9A3 regulator 2 (SLC9A3R2), transcript variant 2,
            mRNA.
ACCESSION   NM_004785
VERSION     NM_004785.5
KEYWORDS    RefSeq.
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 2161)
  AUTHORS   Ritter-Makinson SL, Paquet M, Bogenpohl JW, Rodin RE, Chris Yun C,
            Weinman EJ, Smith Y and Hall RA.
  TITLE     Group II metabotropic glutamate receptor interactions with NHERF
            scaffold proteins: Implications for receptor localization in brain
  JOURNAL   Neuroscience 353, 58-75 (2017)
   PUBMED   28392297
  REMARK    GeneRIF: Studies support a role for NHERF-1 and NHERF-2 (Na+/H+
            exchanger regulatory factors 1 and 2) in regulating the
            distribution of Group II metabotropic glutamate receptor (mGluRs)
            in the murine brain, while conversely the effects of the mGluR2/3
            PDZ-binding motifs on receptor signaling are likely mediated by
            interactions with other PDZ scaffold proteins beyond the NHERF
            proteins.
REFERENCE   2  (bases 1 to 2161)
  AUTHORS   Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
            van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
            Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
            Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
            Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
            Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
            Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
            Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
            Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
            Roepman R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2161)
  AUTHORS   Law RJ, Law HT, Scurll JM, Scholz R, Santos AS, Shames SR, Deng W,
            Croxen MA, Li Y, de Hoog CL, van der Heijden J, Foster LJ, Guttman
            JA and Finlay BB.
  TITLE     Quantitative Mass Spectrometry Identifies Novel Host Binding
            Partners for Pathogenic Escherichia coli Type III Secretion System
            Effectors
  JOURNAL   J. Proteome Res. 15 (5), 1613-1622 (2016)
   PUBMED   27018634
REFERENCE   4  (bases 1 to 2161)
  AUTHORS   Sauvanet C, Garbett D and Bretscher A.
  TITLE     The function and dynamics of the apical scaffolding protein E3KARP
            are regulated by cell-cycle phosphorylation
  JOURNAL   Mol. Biol. Cell 26 (20), 3615-3627 (2015)
   PUBMED   26310448
  REMARK    GeneRIF: Moreover, the S303D mutation enhances the in vivo dynamics
            of the E3KARP tail alone, whereas in vitro the interaction of
            E3KARP with active ezrin is unaffected by S303D
REFERENCE   5  (bases 1 to 2161)
  AUTHORS   Zizak M, Lamprecht G, Steplock D, Tariq N, Shenolikar S, Donowitz
            M, Yun CH and Weinman EJ.
  TITLE     cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger
            3 (NHE3) are dependent on the presence but not the phosphorylation
            of NHE regulatory factor
  JOURNAL   J. Biol. Chem. 274 (35), 24753-24758 (1999)
   PUBMED   10455146
REFERENCE   6  (bases 1 to 2161)
  AUTHORS   Imai K, Sarker AH, Akiyama K, Ikeda S, Yao M, Tsutsui K, Shohmori T
            and Seki S.
  TITLE     Genomic structure and sequence of a human homologue (NTHL1/NTH1) of
            Escherichia coli endonuclease III with those of the adjacent parts
            of TSC2 and SLC9A3R2 genes
  JOURNAL   Gene 222 (2), 287-295 (1998)
   PUBMED   9831664
REFERENCE   7  (bases 1 to 2161)
  AUTHORS   Yun CH, Lamprecht G, Forster DV and Sidor A.
  TITLE     NHE3 kinase A regulatory protein E3KARP binds the epithelial brush
            border Na+/H+ exchanger NHE3 and the cytoskeletal protein ezrin
  JOURNAL   J. Biol. Chem. 273 (40), 25856-25863 (1998)
   PUBMED   9748260
REFERENCE   8  (bases 1 to 2161)
  AUTHORS   Hall RA, Ostedgaard LS, Premont RT, Blitzer JT, Rahman N, Welsh MJ
            and Lefkowitz RJ.
  TITLE     A C-terminal motif found in the beta2-adrenergic receptor, P2Y1
            receptor and cystic fibrosis transmembrane conductance regulator
            determines binding to the Na+/H+ exchanger regulatory factor family
            of PDZ proteins
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (15), 8496-8501 (1998)
   PUBMED   9671706
REFERENCE   9  (bases 1 to 2161)
  AUTHORS   Yun CH, Oh S, Zizak M, Steplock D, Tsao S, Tse CM, Weinman EJ 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 2161)
  AUTHORS   Poulat F, de Santa Barbara P, Desclozeaux M, Soullier S, Moniot B,
            Bonneaud N, Boizet B and Berta P.
  TITLE     The human testis determining factor SRY binds a nuclear factor
            containing PDZ protein interaction domains
  JOURNAL   J. Biol. Chem. 272 (11), 7167-7172 (1997)
   PUBMED   9054412
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093513.3 and U82108.1.
            
            [WARNING] On May 31, 2019 this sequence was replaced by
            NM_004785.6.
            
            On Nov 2, 2011 this sequence version replaced NM_004785.4.
            
            Summary: This gene encodes a member of the NHERF family of PDZ
            scaffolding proteins. These proteins mediate many cellular
            processes by binding to and regulating the membrane expression and
            protein-protein interactions of membrane receptors and transport
            proteins. The encoded protein plays a role in intestinal sodium
            absorption by regulating the activity of the sodium/hydrogen
            exchanger 3, and may also regulate the cystic fibrosis
            transmembrane regulator (CFTR) ion channel. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, but maintains the reading frame, compared
            to variant 1. The encoded isoform (b) is shorter than isoform a.
            
            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 :: U82108.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                AC093513.3         64174-64233         c
            61-1543             U82108.1           14-1496
            1544-2161           AC093513.3         52075-52692         c
FEATURES             Location/Qualifiers
     source          1..2161
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2161
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /note="SLC9A3 regulator 2"
                     /db_xref="GeneID:9351"
                     /db_xref="HGNC:HGNC:11076"
                     /db_xref="MIM:606553"
     exon            1..351
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..1119
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /note="isoform b is encoded by transcript variant 2;
                     solute carrier family 9 (sodium/hydrogen exchanger),
                     isoform 3 regulatory factor 2; solute carrier family 9
                     (sodium/hydrogen exchanger), isoform 3 regulator 2; solute
                     carrier family 9, subfamily A (NHE3, cation proton
                     antiporter 3), member 3 regulator 2; Na(+)/H(+) exchange
                     regulatory cofactor NHE-RF2; SRY-interacting protein 1;
                     tyrosine kinase activator protein 1; NHE3 kinase A
                     regulatory protein E3KARP; solute carrier family 9 isoform
                     A3 regulatory factor 2; NHE3 regulatory factor 2;
                     sodium/hydrogen exchanger 3 kinase A regulatory protein;
                     solute carrier family 9 (sodium/hydrogen exchanger),
                     member 3 regulator 2"
                     /codon_start=1
                     /product="Na(+)/H(+) exchange regulatory cofactor NHE-RF2
                     isoform b"
                     /protein_id="NP_004776.3"
                     /db_xref="CCDS:CCDS45383.1"
                     /db_xref="GeneID:9351"
                     /db_xref="HGNC:HGNC:11076"
                     /db_xref="MIM:606553"
                     /translation="MAAPEPLRPRLCRLVRGEQGYGFHLHGEKGRRGQFIRRVEPGSP
                     AEAAALRAGDRLVEVNGVNVEGETHHQVVQRIKAVEGQTRLLVVDQETDEELRRRQLT
                     CTEEMAQRGLPPAHDPWEPKPDWAHTGSHSSEAGKKDVSGPLRELRPRLCHLRKGPQG
                     YGFNLHSDKSRPGQYIRSVDPGSPAARSGLRAQDRLIEVNGQNVEGLRHAEVVASIKA
                     REDEARLLVVDPETDEHFKRLRVTPTEEHVEGPLPSPVTNGTSPAQLNGGSACSSRSD
                     LPGSDKDTEESGLHLSPTAAEAKEKARAMRVNKRAPQMDWNRKREIFSNF"
     exon            352..552
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            553..732
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            733..886
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            887..930
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            931..993
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            994..2161
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1593..1598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
     polyA_site      1617
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
     polyA_site      2161
                     /gene="SLC9A3R2"
                     /gene_synonym="E3KARP; NHE3RF2; NHERF-2; NHERF2; OCTS2;
                     SIP-1; SIP1; TKA-1"
ORIGIN      
        1 ggagcccgag ccggatcccg aggcgacggg agccgaacag gagccgccgc tgaagccacc
       61 gccgggtgcc cagcgccgcc gccgcccccg agctcccccg cgcccctgcc cgcgggcggc
      121 cggtgggcag cgggcgccat ggccgcgccg gagccgctgc ggccgcgcct gtgccgcttg
      181 gtgcgcggag agcagggcta cggcttccac ctgcacggcg agaagggccg ccgcgggcag
      241 ttcatccggc gcgtggaacc cggttccccc gccgaggccg ccgcgctgcg cgctggggac
      301 cgcctggtcg aggtcaacgg cgtcaacgtg gagggcgaga cgcaccacca ggtggtgcaa
      361 aggatcaagg ctgtggaggg gcagactcgg ctgctggtgg tggaccagga gacagatgag
      421 gagctccgcc ggcggcagct gacctgtacc gaggagatgg cccagcgagg gctcccaccc
      481 gcccacgacc cctgggagcc gaagccagac tgggcacaca ccggcagcca cagctccgaa
      541 gctggcaaga aggatgtcag tgggcccctg agggagctgc gccctcggct ctgccacctg
      601 cgaaagggac ctcagggcta tgggttcaac ctgcatagtg acaagtcccg gcccggccag
      661 tacatccgct ctgtggaccc gggctcacct gccgcccgct ctggcctccg cgcccaggac
      721 cggctcattg aggtgaacgg gcagaatgtg gagggactgc gccatgctga ggtggtggcc
      781 agcatcaagg cacgggagga cgaggcccgg ctgctggtcg tggaccccga gacagatgaa
      841 cacttcaagc ggcttcgggt cacacccacc gaggagcacg tggaaggtcc tctgccgtca
      901 cccgtcacca atggaaccag ccctgcccag ctcaatggtg gctctgcgtg ctcgtcccga
      961 agtgacctgc ctggttccga caaggacact gaggagagcg gcctccacct gagccccacg
     1021 gcggccgagg ccaaggagaa ggctcgagcc atgcgagtca acaagcgcgc gccacagatg
     1081 gactggaaca ggaagcgtga aatcttcagc aacttctgag ccccttcctg cctgtctcgg
     1141 gaccctggga cccctcccgc acggaccttg ggcctcagcc tgccccgagc tcccccagcc
     1201 tcagtggact ggagggtggt cctgccattg cccagaaatc agccccagcc ccggtgagcc
     1261 cccatcctgc ccctgcccac caggtactgg gggcctgtgg cagcaagata gggggagaga
     1321 gacccagaga tgtgagagag agtcagagac agagacagag agagagagag agagacacag
     1381 agagagacag agagagagcg agcgagcgcg cggcagccgc ggggcgaggg cctttgctgc
     1441 tctgccgggg cctgctgact gaaaggaatt tgtgtttttg ctttttttcc aaaaagatct
     1501 ccagctccac acatgtttcc acttaatacc agagaccccc ccccttcccc tcccccttcc
     1561 cctccccctt gggacgcgct ctaaataatt gcaataaaac aaacctttct ctgcaaacca
     1621 tttcctcccc gccccctccc ctcagcagcg gccgtcctga gtgggagtcc ctgggacttc
     1681 ccagtggcca agttggggcg cccagcctct tcgtggggac cttgggtaag gccagggagg
     1741 cctgatgtgg ccgtaggagc tgcccctgcc cacctgccct ggtgtggggg tccctaggcc
     1801 acaccctgct ccccacccag ctaccctgtg cgcctgtgcc ctgctggggg cctgggctct
     1861 ccgaggggcc tgaggatgga ggccccacgt ccccgaggag ggcggcctct ggacaggccc
     1921 ctcattccgc gcggcagctc ccaggcctgg ggaacgtagg tgtgtgagag cggcacccgg
     1981 gaaggacgcc tggcctctgg ctcagccctg cttggcgggc tcccccgtgg acaccctgtt
     2041 gactttgcac ttccctcccg ggccccgcac ccccgaaccg accaccgatc gaccggcacc
     2101 gctgttgcct cgtaagccat agcgcatgcg cgctctcagg ataaacaggc cctgcctggg
     2161 a
//
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