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
//