LOCUS       NM_001168468            2259 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NHERF family PDZ scaffold protein 4 (NHERF4),
            transcript variant 1, mRNA.
ACCESSION   NM_001168468
VERSION     NM_001168468.2
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  (bases 1 to 2259)
  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  (bases 1 to 2259)
  AUTHORS   Pouly,D., Chenaux,S., Martin,V., Babis,M., Koch,R., Nagoshi,E.,
            Katanaev,V.L., Gachon,F. and Staub,O.
  TITLE     USP2-45 Is a Circadian Clock Output Effector Regulating Calcium
            Absorption at the Post-Translational Level
  JOURNAL   PLoS One 11 (1), e0145155 (2016)
   PUBMED   26756164
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2259)
  AUTHORS   Reid,H.M., Turner,E.C., Mulvaney,E.P., Hyland,P.B., McLean,C. and
            Kinsella,B.T.
  TITLE     Interaction of the human prostacyclin receptor and the NHERF4
            family member intestinal and kidney enriched PDZ protein (IKEPP)
  JOURNAL   Biochim Biophys Acta 1823 (10), 1998-2012 (2012)
   PUBMED   22884631
  REMARK    GeneRIF: IKEPP was also found to be expressed in vascular
            endothelial cells where it co-localizes and complexes with the hIP
            Erratum:[Biochim Biophys Acta. 2015 Jan;1853(1):63-4]
REFERENCE   4  (bases 1 to 2259)
  AUTHORS   Lee,J.H., Nam,J.H., Park,J., Kang,D.W., Kim,J.Y., Lee,M.G. and
            Yoon,J.S.
  TITLE     Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction
  JOURNAL   Cell Signal 24 (9), 1821-1830 (2012)
   PUBMED   22627094
  REMARK    GeneRIF: The NHERF4 is a novel modulator of luminal fluidity in the
            intestine by adjusting SLC26A3 expression and activity through a
            phosphorylation-dependent mechanism.
REFERENCE   5  (bases 1 to 2259)
  AUTHORS   Zachos,N.C., Hodson,C., Kovbasnjuk,O., Li,X., Thelin,W.R., Cha,B.,
            Milgram,S. and Donowitz,M.
  TITLE     Elevated intracellular calcium stimulates NHE3 activity by an IKEPP
            (NHERF4) dependent mechanism
  JOURNAL   Cell Physiol Biochem 22 (5-6), 693-704 (2008)
   PUBMED   19088451
  REMARK    GeneRIF: Regulation of NHE3 depends on the nature of the NHERF
            family member associating with NHE3 and the accompanying NHE3
            complexes.
REFERENCE   6  (bases 1 to 2259)
  AUTHORS   Thelin,W.R., Hodson,C.A. and Milgram,S.L.
  TITLE     Beyond the brush border: NHERF4 blazes new NHERF turf
  JOURNAL   J Physiol 567 (Pt 1), 13-19 (2005)
   PUBMED   15994182
  REMARK    Review article
REFERENCE   7  (bases 1 to 2259)
  AUTHORS   Kato,Y., Sai,Y., Yoshida,K., Watanabe,C., Hirata,T. and Tsuji,A.
  TITLE     PDZK1 directly regulates the function of organic cation/carnitine
            transporter OCTN2
  JOURNAL   Mol Pharmacol 67 (3), 734-743 (2005)
   PUBMED   15523054
REFERENCE   8  (bases 1 to 2259)
  AUTHORS   Hegedus,T., Sessler,T., Scott,R., Thelin,W., Bakos,E., Varadi,A.,
            Szabo,K., Homolya,L., Milgram,S.L. and Sarkadi,B.
  TITLE     C-terminal phosphorylation of MRP2 modulates its interaction with
            PDZ proteins
  JOURNAL   Biochem Biophys Res Commun 302 (3), 454-461 (2003)
   PUBMED   12615054
REFERENCE   9  (bases 1 to 2259)
  AUTHORS   Scott,R.O., Thelin,W.R. and Milgram,S.L.
  TITLE     A novel PDZ protein regulates the activity of guanylyl cyclase C,
            the heat-stable enterotoxin receptor
  JOURNAL   J Biol Chem 277 (25), 22934-22941 (2002)
   PUBMED   11950846
  REMARK    GeneRIF: A novel PDZ protein regulates the activity of guanylyl
            cyclase C, the heat-stable enterotoxin receptor.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA381610.1, AY047359.1 and AB094096.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001168468.1.
            
            Summary: Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces
            cGMP following the binding of either endogenous ligands or
            heat-stable enterotoxins secreted by E. coli and other enteric
            bacteria. Activation of GCC initiates a signaling cascade that
            leads to phosphorylation of the cystic fibrosis transmembrane
            conductance regulator (CFTR; MIM 602421), followed by a net efflux
            of ions and water into the intestinal lumen. IKEPP is a regulatory
            protein that associates with GCC and regulates the amount of cGMP
            produced following receptor stimulation (Scott et al., 2002 [PubMed
            11950846]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK315403.1, AY047359.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355547.10/ ENSP00000347742.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DA381610.1         19-38
            21-1538             AY047359.1         1-1518
            1539-2259           AB094096.1         2249-2969
FEATURES             Location/Qualifiers
     source          1..2259
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..2259
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /note="NHERF family PDZ scaffold protein 4"
                     /db_xref="GeneID:79849"
                     /db_xref="HGNC:HGNC:19891"
                     /db_xref="MIM:607146"
     exon            1..36
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1538
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /note="isoform 1 is encoded by transcript variant 1; PDZ
                     domain containing 2; natrium-phosphate cotransporter IIa
                     C-terminal-associated protein 2; sodium-hydrogen exchanger
                     regulatory factor 4; Na(+)/H(+) exchange regulatory
                     cofactor NHE-RF4; intestinal and kidney enriched PDZ
                     protein; NHERF-4; naPi-Cap2; PDZ domain-containing protein
                     2; PDZ domain-containing protein 3; PDZ domain containing
                     3; na/Pi cotransporter C-terminal-associated protein 2;
                     Na(+)/H(+) exchange regulatory cofactor 4"
                     /codon_start=1
                     /product="Na(+)/H(+) exchange regulatory cofactor NHE-RF4
                     isoform 1"
                     /protein_id="NP_001161940.1"
                     /db_xref="CCDS:CCDS53719.1"
                     /db_xref="GeneID:79849"
                     /db_xref="HGNC:HGNC:19891"
                     /db_xref="MIM:607146"
                     /translation="MEKAADLQDTASLTLKFKFNPKLGIDNPVLSLAEDHDPYDPWSL
                     ERPRFCLLSKEEGKSFGFHLQQELGRAGHVVCRVDPGTSAQRQGLQEGDRILAVNNDV
                     VEHEDYAVVVRRIRASSPRVLLTVLARHAHDVARAQLGEDAHLCPTLGPGVRPRLCHI
                     VKDEGGFGFSVTHGNQGPFWLVLSTGGAAERAGVPPGARLLEVNGVSVEKFTHNQLTR
                     KLWQSGQQVTLLVAGPEVEEQCRQLGLPLAAPLAEGWALPTKPRCLHLEKGPQGFGFL
                     LREEKGLDGRPGQFLWEVDPGLPAKKAGMQAGDRLVAVAGESVEGLGHEETVSRIQGQ
                     GSCVSLTVVDPEADRFFSMVRLSPLLFLENTEAPASPRGSSSASLVETEDPSLEDTSV
                     PSVPLGSRQCFLYPGPGGSYGFRLSCVASGPRLFISQVTPGGSAARAGLQVGDVILEV
                     NGYPVGGQNDLERLQQLPEAEPPLCLKLAARSLRGLEAWIPPGAAEDWALASDLL"
     exon            37..64
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            65..138
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            139..350
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            351..540
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            541..677
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            678..882
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1079
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1307
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1508
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1509..2259
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2000
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /note="major polyA site"
     regulatory      2198..2203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /note="hexamer: AATAAA"
     polyA_site      2223
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /note="major polyA site"
     regulatory      2235..2240
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
                     /note="hexamer: AATAAA"
     polyA_site      2254
                     /gene="NHERF4"
                     /gene_synonym="IKEPP; PDZD3; PDZK2"
ORIGIN      
        1 actgggttgc tgatccagct atggagaaag ccgcagatct gcaggacaca gcctcgttaa
       61 ctctgaagtt taagtttaac ccaaagctgg gcattgataa tcctgtcctc tccctggccg
      121 aagaccacga cccctatgat ccctggagcc tggagcggcc tcgcttctgt ttactgagca
      181 aagaggaggg caagagtttt ggcttccacc tgcagcagga gctgggcagg gctgggcatg
      241 tggtgtgcag ggtggaccca ggcacctctg cccagcgcca gggtcttcag gaaggagaca
      301 ggatcctggc ggtgaacaat gatgttgtgg aacacgaaga ctatgcggtg gtggtacgcc
      361 gcatccgggc cagcagccct cgggtgttgc tgacagtatt ggcacggcat gcacatgacg
      421 tggcccgagc tcagctggga gaagatgccc acctctgtcc caccctaggc ccaggggtcc
      481 ggccccggct gtgccacata gtgaaagatg agggtggttt tggcttcagt gtcacccatg
      541 gcaatcaggg tcctttctgg ttggtgctaa gtactggagg agcagctgag cgggcagggg
      601 tgccccccgg ggcccggctg ctggaagtga atggggtcag tgtggagaag ttcactcaca
      661 accaactcac caggaagctt tggcagagtg gacagcaggt gaccttgctg gtggcagggc
      721 cagaggtgga agaacagtgt cgccagctgg gattgcccct ggctgcaccc ctggcagagg
      781 gctgggcact gcccaccaag ccccgctgcc tgcacctgga gaaagggccc cagggttttg
      841 ggttcctgct ccgggaggaa aagggccttg acggtcgccc tggacagttc ctgtgggagg
      901 tggacccggg actgccagcc aagaaggctg ggatgcaggc tggggaccgg ctggtggctg
      961 tggctgggga gagcgtggag gggctgggcc atgaggagac agtgtccagg atccaggggc
     1021 agggctcctg tgtctccctc actgtcgtcg accctgaggc ggaccgcttc ttcagcatgg
     1081 ttcgcctgtc cccactcctc ttcttggaga acacagaggc tcccgcctcg ccccggggca
     1141 gcagctcagc ctcactggtt gagacagagg acccttcact tgaagacaca agcgtgcctt
     1201 ctgtccctct tggctcccga cagtgcttcc tgtaccctgg gcctggtggc agctatggct
     1261 tccgactcag ttgtgtggcc agtgggcctc gtctcttcat ctcccaggtg actccaggag
     1321 gctcagctgc ccgggctggg ctgcaagtgg gagacgtgat tctggaagtg aacgggtatc
     1381 ctgttggggg acagaatgac ctggagaggc ttcagcagct gcctgaggct gagccacccc
     1441 tctgcctgaa gctggcagcc aggtctctgc ggggcttgga agcctggatt ccccctgggg
     1501 ctgcagagga ctgggctctg gcctcggatc tactgtagag cacccctgct tggtacagac
     1561 atactcaggg gctaccgtgt cttcactctc cagcctgagg tggtgaaggc aggatgctct
     1621 ctctaagcca gaccagaggg actcagacac caccgatcac aggctggccc aggtgctccc
     1681 tcccttcctg caggcccacc tgccagcaga gggtgtggtt ggaggcctca gacaggtccc
     1741 tgaaggagtc tgaggctcca gaggatgtca tatgggagtt ttagagagct gtgtcccaag
     1801 gatgaaggtg tggctgtggg tctggctagg attgaagcca tctggacctt ttctagatat
     1861 gactccagga cccttgagtg taatgcaaaa atttggagac cagctatgcc tgccctctgt
     1921 gggtgcctta gcattgcggg agggtggtgc ttggtcaccg ttgcatttgt tatagaaatg
     1981 gccattcgcc ataaatctga ctgcctgtgt ttgtgttggt gggggtaagg ggcagtggtg
     2041 tgaagggacc aaaagggcct caggctcaag gggtgggatg cggctcctgc aggagagagg
     2101 ttgagacctg gtcaaattta tttcctatca atcactgaat ctcagggata atgggtcaac
     2161 ccagaactga gatgtctgta tgacagccac tcctaaaaat aaacaacaac aaaaacaaaa
     2221 aaagaagaaa actaaataaa aataaaaata aaaataaga
//
