ID S26A3_HUMAN Reviewed; 764 AA.
AC P40879;
DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1995, sequence version 1.
DT 27-MAR-2024, entry version 207.
DE RecName: Full=Chloride anion exchanger;
DE AltName: Full=Down-regulated in adenoma;
DE Short=Protein DRA;
DE AltName: Full=Solute carrier family 26 member 3;
GN Name=SLC26A3; Synonyms=DRA;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Colon;
RX PubMed=7683425; DOI=10.1073/pnas.90.9.4166;
RA Schweinfest C.W., Henderson K.W., Suster S., Kondoh N., Papas T.S.;
RT "Identification of a colon mucosa gene that is down-regulated in colon
RT adenomas and adenocarcinomas.";
RL Proc. Natl. Acad. Sci. U.S.A. 90:4166-4170(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP SIMILARITY TO SULFATE PERMEASES.
RX PubMed=8140616; DOI=10.1016/0968-0004(94)90168-6;
RA Sandal N.N., Marcker K.A.;
RT "Similarities between a soybean nodulin, Neurospora crassa sulphate
RT permease II and a putative human tumour suppressor.";
RL Trends Biochem. Sci. 19:19-19(1994).
RN [4]
RP INTERACTION WITH PDZK1.
RX PubMed=15766278; DOI=10.1021/bi048828b;
RA Rossmann H., Jacob P., Baisch S., Hassoun R., Meier J., Natour D.,
RA Yahya K., Yun C., Biber J., Lackner K.J., Fiehn W., Gregor M., Seidler U.,
RA Lamprecht G.;
RT "The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3-
RT exchanger DRA in rabbit small intestinal mucosa.";
RL Biochemistry 44:4477-4487(2005).
RN [5]
RP FUNCTION, AND TRANSPORTER ACTIVITY.
RX PubMed=16606687; DOI=10.1085/jgp.200509392;
RA Shcheynikov N., Wang Y., Park M., Ko S.B., Dorwart M., Naruse S.,
RA Thomas P.J., Muallem S.;
RT "Coupling modes and stoichiometry of Cl-/HCO3- exchange by slc26a3 and
RT slc26a6.";
RL J. Gen. Physiol. 127:511-524(2006).
RN [6]
RP FUNCTION, TRANSPORTER ACTIVITY, ACTIVITY REGULATION, AND SUBCELLULAR
RP LOCATION.
RX PubMed=19321737; DOI=10.1152/ajpcell.00638.2008;
RA Hayashi H., Suruga K., Yamashita Y.;
RT "Regulation of intestinal Cl-/HCO3- exchanger SLC26A3 by intracellular
RT pH.";
RL Am. J. Physiol. 296:C1279-C1290(2009).
RN [7]
RP GLYCOSYLATION AT ASN-153; ASN-161 AND ASN-165, SUBCELLULAR LOCATION,
RP FUNCTION, AND TRANSPORTER ACTIVITY.
RX PubMed=22159084; DOI=10.1152/ajpcell.00165.2011;
RA Hayashi H., Yamashita Y.;
RT "Role of N-glycosylation in cell surface expression and protection against
RT proteolysis of the intestinal anion exchanger SLC26A3.";
RL Am. J. Physiol. 302:C781-C795(2012).
RN [8]
RP FUNCTION, TRANSPORTER ACTIVITY, SUBCELLULAR LOCATION, INTERACTION WITH
RP NHERF4, MUTAGENESIS OF 761-GLU--PHE-764, AND PDZ-BINDING MOTIF.
RX PubMed=22627094; DOI=10.1016/j.cellsig.2012.05.010;
RA Lee J.H., Nam J.H., Park J., Kang D.W., Kim J.Y., Lee M.G., Yoon J.S.;
RT "Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction.";
RL Cell. Signal. 24:1821-1830(2012).
RN [9]
RP VARIANTS DIAR1 LEU-124 AND VAL-318 DEL, AND VARIANT TRP-307.
RX PubMed=8896562; DOI=10.1038/ng1196-316;
RA Hoeglund P., Haila S., Socha J., Tomaszewski L., Saarialho-Kere U.,
RA Karjalainen-Lindsberg M.-L., Airola K., Holmberg C., de la Chapelle A.,
RA Kere J.;
RT "Mutations of the Down-regulated in adenoma (DRA) gene cause congenital
RT chloride diarrhoea.";
RL Nat. Genet. 14:316-319(1996).
RN [10]
RP VARIANTS DIAR1 SER-120; LEU-124; ARG-131 AND ARG-496.
RX PubMed=9718329; DOI=10.1086/301998;
RA Hoglund P., Auranen M., Socha J., Popinska K., Nazer H., Rajaram U.,
RA Al Sanie A., Al-Ghanim M., Holmberg C., de la Chapelle A., Kere J.;
RT "Genetic background of congenital chloride diarrhea in high-incidence
RT populations: Finland, Poland, and Saudi Arabia and Kuwait.";
RL Am. J. Hum. Genet. 63:760-768(1998).
RN [11]
RP VARIANTS DIAR1 SER-120; ARG-131; VAL-318 DEL AND TYR-527 DEL.
RX PubMed=9554749;
RX DOI=10.1002/(sici)1098-1004(1998)11:4<321::aid-humu10>3.0.co;2-a;
RA Hoeglund P., Haila S., Gustavson K.-H., Taipale M., Hannula K.,
RA Popinska K., Holmberg C., Socha J., de la Chapelle A., Kere J.;
RT "Clustering of private mutations in the congenital chloride diarrhea/down-
RT regulated in adenoma gene.";
RL Hum. Mutat. 11:321-327(1998).
RN [12]
RP VARIANTS DIAR1 PRO-206 AND VAL-468.
RX PubMed=11524734; DOI=10.1002/humu.1179;
RA Hoeglund P., Sormaala M., Haila S., Socha J., Rajaram U., Scheurlen W.,
RA Sinaasappel M., de Jonge H., Holmberg C., Yoshikawa H., Kere J.;
RT "Identification of seven novel mutations including the first two genomic
RT rearrangements in SLC26A3 mutated in congenital chloride diarrhea.";
RL Hum. Mutat. 18:233-242(2001).
RN [13]
RP VARIANTS DIAR1 CYS-520 AND ASN-652.
RX PubMed=19861545; DOI=10.1073/pnas.0910672106;
RA Choi M., Scholl U.I., Ji W., Liu T., Tikhonova I.R., Zumbo P., Nayir A.,
RA Bakkaloglu A., Ozen S., Sanjad S., Nelson-Williams C., Farhi A., Mane S.,
RA Lifton R.P.;
RT "Genetic diagnosis by whole exome capture and massively parallel DNA
RT sequencing.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:19096-19101(2009).
RN [14]
RP VARIANTS DIAR1 LEU-129; LEU-131; ILE-136; ASP-204; PRO-220; TYR-343;
RP 344-PHE--VAL-349 DELINS ASP-ALA; ALA-379; PHE-398; ASN-521 AND ASN-544.
RX PubMed=21394828; DOI=10.1002/humu.21498;
RA Wedenoja S., Pekansaari E., Hoglund P., Makela S., Holmberg C., Kere J.;
RT "Update on SLC26A3 mutations in congenital chloride diarrhea.";
RL Hum. Mutat. 32:715-722(2011).
RN [15]
RP VARIANT DIAR1 PRO-220.
RX PubMed=21150650; DOI=10.1097/mpg.0b013e3181f28d1a;
RA Rodriguez-Herrera A., Navas-Lopez V.M., Redondo-Nevado J., Gutierrez G.;
RT "Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings
RT with congenital chloride diarrhea.";
RL J. Pediatr. Gastroenterol. Nutr. 52:106-110(2011).
RN [16]
RP VARIANT DIAR1 SER-175.
RX PubMed=22779076; DOI=10.3343/alm.2012.32.4.312;
RA Lee E.S., Cho A.R., Ki C.S.;
RT "Identification of SLC26A3 mutations in a Korean patient with congenital
RT chloride diarrhea.";
RL Ann. Lab. Med. 32:312-315(2012).
RN [17]
RP VARIANTS DIAR1 LEU-131 AND ASN-134.
RX PubMed=23274434; DOI=10.1007/s00431-012-1905-3;
RA Hong J., Seo J.K., Ko J.S., Cheong H.I., Choi J.H., Lee J.H., Seo J.W.;
RT "Congenital chloride diarrhea in Korean children: novel mutations and
RT genetic characteristics.";
RL Eur. J. Pediatr. 172:545-550(2013).
RN [18]
RP VARIANTS DIAR1 SER-120; LEU-129; ARG-131; VAL-318 DEL; ILE-394; PRO-438;
RP PRO-495; ARG-508; GLU-547; PRO-654 AND ILE-675 INS.
RX PubMed=28644346; DOI=10.1097/mpg.0000000000001418;
RA Amato F., Cardillo G., Liguori R., Scorza M., Comegna M., Elce A.,
RA Giordano S., Lucaccioni L., Lugli L., Cardile S., Romano C., Pezzella V.,
RA Castaldo G., Canani R.B.;
RT "Twelve novel mutations in the SLC26A3 gene in 17 sporadic cases of
RT congenital chloride diarrhea.";
RL J. Pediatr. Gastroenterol. Nutr. 65:26-30(2017).
CC -!- FUNCTION: Mediates chloride-bicarbonate exchange with a chloride
CC bicarbonate stoichiometry of 2:1 in the intestinal epithelia
CC (PubMed:16606687, PubMed:19321737, PubMed:22159084, PubMed:22627094).
CC Plays a role in the chloride and bicarbonate homeostasis during sperm
CC epididymal maturation and capacitation (By similarity).
CC {ECO:0000250|UniProtKB:Q9WVC8, ECO:0000269|PubMed:16606687,
CC ECO:0000269|PubMed:19321737, ECO:0000269|PubMed:22159084,
CC ECO:0000269|PubMed:22627094}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=2 chloride(out) + hydrogencarbonate(in) = 2 chloride(in) +
CC hydrogencarbonate(out); Xref=Rhea:RHEA:72203, ChEBI:CHEBI:17544,
CC ChEBI:CHEBI:17996; Evidence={ECO:0000269|PubMed:16606687,
CC ECO:0000269|PubMed:19321737, ECO:0000269|PubMed:22159084,
CC ECO:0000269|PubMed:22627094};
CC -!- ACTIVITY REGULATION: Inhibited by acidic pH.
CC {ECO:0000269|PubMed:19321737}.
CC -!- SUBUNIT: Interacts with CFTR, SLC26A6 and NHERF1 (By similarity).
CC Interacts with PDZK1 (PubMed:15766278). Interacts (via PDZ-binding
CC motif) with NHERF4 (via the third PDZ domain); interaction leads to
CC decreased expression of SLC26A3 on the cell membrane resulting in its
CC reduced exchanger activity (PubMed:22627094).
CC {ECO:0000250|UniProtKB:Q9WVC8, ECO:0000269|PubMed:15766278,
CC ECO:0000269|PubMed:22627094}.
CC -!- INTERACTION:
CC P40879; Q15599: NHERF2; NbExp=5; IntAct=EBI-8542350, EBI-1149760;
CC -!- SUBCELLULAR LOCATION: Apical cell membrane
CC {ECO:0000269|PubMed:22159084}; Multi-pass membrane protein
CC {ECO:0000255}. Membrane {ECO:0000250|UniProtKB:Q9WVC8}; Multi-pass
CC membrane protein {ECO:0000255}. Cell membrane
CC {ECO:0000269|PubMed:19321737, ECO:0000269|PubMed:22627094}; Multi-pass
CC membrane protein {ECO:0000255}. Note=Localized in sperm membranes.
CC Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm
CC tail (By similarity). {ECO:0000250|UniProtKB:Q9WVC8}.
CC -!- TISSUE SPECIFICITY: Expressed in the colon. Expression is significantly
CC decreased in adenomas (polyps) and adenocarcinomas of the colon.
CC {ECO:0000269|PubMed:7683425}.
CC -!- PTM: N-glycosylation is required for efficient cell surface expression,
CC and protection from proteolytic degradation.
CC {ECO:0000269|PubMed:22159084}.
CC -!- DISEASE: Diarrhea 1, secretory chloride, congenital (DIAR1)
CC [MIM:214700]: A disease characterized by voluminous watery stools
CC containing an excess of chloride. The children with this disease are
CC often premature. {ECO:0000269|PubMed:11524734,
CC ECO:0000269|PubMed:19861545, ECO:0000269|PubMed:21150650,
CC ECO:0000269|PubMed:21394828, ECO:0000269|PubMed:22779076,
CC ECO:0000269|PubMed:23274434, ECO:0000269|PubMed:28644346,
CC ECO:0000269|PubMed:8896562, ECO:0000269|PubMed:9554749,
CC ECO:0000269|PubMed:9718329}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
CC {ECO:0000305}.
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DR EMBL; L02785; AAA58443.1; -; mRNA.
DR EMBL; BC025671; AAH25671.1; -; mRNA.
DR CCDS; CCDS5748.1; -.
DR PIR; A47456; A47456.
DR RefSeq; NP_000102.1; NM_000111.2.
DR RefSeq; XP_011514169.1; XM_011515867.2.
DR PDB; 7XUH; EM; 2.76 A; A/B=1-764.
DR PDB; 7XUJ; EM; 2.80 A; A/B=8-725.
DR PDB; 7XUL; EM; 3.16 A; A/B=8-725.
DR PDBsum; 7XUH; -.
DR PDBsum; 7XUJ; -.
DR PDBsum; 7XUL; -.
DR AlphaFoldDB; P40879; -.
DR EMDB; EMD-33469; -.
DR EMDB; EMD-33471; -.
DR EMDB; EMD-33473; -.
DR SMR; P40879; -.
DR BioGRID; 108145; 1.
DR IntAct; P40879; 2.
DR MINT; P40879; -.
DR STRING; 9606.ENSP00000345873; -.
DR ChEMBL; CHEMBL4523223; -.
DR TCDB; 2.A.53.2.18; the sulfate permease (sulp) family.
DR GlyCosmos; P40879; 3 sites, No reported glycans.
DR GlyGen; P40879; 3 sites.
DR iPTMnet; P40879; -.
DR PhosphoSitePlus; P40879; -.
DR BioMuta; SLC26A3; -.
DR DMDM; 729367; -.
DR jPOST; P40879; -.
DR MassIVE; P40879; -.
DR PaxDb; 9606-ENSP00000345873; -.
DR PeptideAtlas; P40879; -.
DR ProteomicsDB; 55383; -.
DR Antibodypedia; 31383; 121 antibodies from 26 providers.
DR DNASU; 1811; -.
DR Ensembl; ENST00000340010.10; ENSP00000345873.5; ENSG00000091138.13.
DR GeneID; 1811; -.
DR KEGG; hsa:1811; -.
DR MANE-Select; ENST00000340010.10; ENSP00000345873.5; NM_000111.3; NP_000102.1.
DR UCSC; uc003ver.3; human.
DR AGR; HGNC:3018; -.
DR CTD; 1811; -.
DR DisGeNET; 1811; -.
DR GeneCards; SLC26A3; -.
DR HGNC; HGNC:3018; SLC26A3.
DR HPA; ENSG00000091138; Tissue enriched (intestine).
DR MalaCards; SLC26A3; -.
DR MIM; 126650; gene.
DR MIM; 214700; phenotype.
DR neXtProt; NX_P40879; -.
DR OpenTargets; ENSG00000091138; -.
DR Orphanet; 53689; Congenital chloride diarrhea.
DR PharmGKB; PA35044; -.
DR VEuPathDB; HostDB:ENSG00000091138; -.
DR eggNOG; KOG0236; Eukaryota.
DR GeneTree; ENSGT01070000253775; -.
DR HOGENOM; CLU_003182_9_4_1; -.
DR InParanoid; P40879; -.
DR OMA; WVMTFIF; -.
DR OrthoDB; 1067648at2759; -.
DR PhylomeDB; P40879; -.
DR TreeFam; TF313784; -.
DR PathwayCommons; P40879; -.
DR Reactome; R-HSA-427601; Multifunctional anion exchangers.
DR Reactome; R-HSA-5619085; Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1).
DR SignaLink; P40879; -.
DR SIGNOR; P40879; -.
DR BioGRID-ORCS; 1811; 10 hits in 1145 CRISPR screens.
DR ChiTaRS; SLC26A3; human.
DR GeneWiki; SLC26A3; -.
DR GenomeRNAi; 1811; -.
DR Pharos; P40879; Tbio.
DR PRO; PR:P40879; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P40879; Protein.
DR Bgee; ENSG00000091138; Expressed in colonic mucosa and 111 other cell types or tissues.
DR ExpressionAtlas; P40879; baseline and differential.
DR Genevisible; P40879; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0031526; C:brush border membrane; IEA:Ensembl.
DR GO; GO:0016020; C:membrane; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0015106; F:bicarbonate transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0015108; F:chloride transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0140900; F:chloride:bicarbonate antiporter activity; IDA:UniProtKB.
DR GO; GO:0019531; F:oxalate transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0008271; F:secondary active sulfate transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0005452; F:solute:inorganic anion antiporter activity; TAS:Reactome.
DR GO; GO:0015116; F:sulfate transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0071320; P:cellular response to cAMP; ISS:UniProtKB.
DR GO; GO:0051454; P:intracellular pH elevation; ISS:UniProtKB.
DR GO; GO:0060081; P:membrane hyperpolarization; ISS:UniProtKB.
DR GO; GO:0006820; P:monoatomic anion transport; TAS:ProtInc.
DR GO; GO:0006811; P:monoatomic ion transport; TAS:Reactome.
DR GO; GO:0048240; P:sperm capacitation; ISS:UniProtKB.
DR CDD; cd07042; STAS_SulP_like_sulfate_transporter; 1.
DR Gene3D; 3.30.750.24; STAS domain; 1.
DR InterPro; IPR018045; S04_transporter_CS.
DR InterPro; IPR011547; SLC26A/SulP_dom.
DR InterPro; IPR001902; SLC26A/SulP_fam.
DR InterPro; IPR002645; STAS_dom.
DR InterPro; IPR036513; STAS_dom_sf.
DR NCBIfam; TIGR00815; sulP; 1.
DR PANTHER; PTHR11814:SF19; CHLORIDE ANION EXCHANGER; 1.
DR PANTHER; PTHR11814; SULFATE TRANSPORTER; 1.
DR Pfam; PF01740; STAS; 1.
DR Pfam; PF00916; Sulfate_transp; 1.
DR SUPFAM; SSF52091; SpoIIaa-like; 1.
DR PROSITE; PS01130; SLC26A; 1.
DR PROSITE; PS50801; STAS; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Antiport; Cell membrane; Chloride; Disease variant;
KW Glycoprotein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..764
FT /note="Chloride anion exchanger"
FT /id="PRO_0000080161"
FT TOPO_DOM 1..76
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 77..97
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 98..99
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 100..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 121..124
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 125..145
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 146..175
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 176..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 197
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 198..218
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 219..257
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 258..278
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 279..342
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 343..363
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 364..374
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 375..395
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 396..411
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 412..432
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 433..469
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 470..490
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 491..701
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT DOMAIN 525..720
FT /note="STAS"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00198"
FT MOTIF 761..764
FT /note="PDZ-binding"
FT /evidence="ECO:0000269|PubMed:22627094"
FT CARBOHYD 153
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:22159084"
FT CARBOHYD 161
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:22159084"
FT CARBOHYD 165
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:22159084"
FT VARIANT 68
FT /note="R -> Q (in dbSNP:rs10280704)"
FT /id="VAR_053660"
FT VARIANT 120
FT /note="G -> S (in DIAR1; dbSNP:rs386833479)"
FT /evidence="ECO:0000269|PubMed:28644346,
FT ECO:0000269|PubMed:9554749, ECO:0000269|PubMed:9718329"
FT /id="VAR_007428"
FT VARIANT 124
FT /note="H -> L (in DIAR1; dbSNP:rs121913030)"
FT /evidence="ECO:0000269|PubMed:8896562,
FT ECO:0000269|PubMed:9718329"
FT /id="VAR_007429"
FT VARIANT 129
FT /note="P -> L (in DIAR1; dbSNP:rs386833480)"
FT /evidence="ECO:0000269|PubMed:21394828,
FT ECO:0000269|PubMed:28644346"
FT /id="VAR_066062"
FT VARIANT 131
FT /note="P -> L (in DIAR1; dbSNP:rs386833481)"
FT /evidence="ECO:0000269|PubMed:21394828,
FT ECO:0000269|PubMed:23274434"
FT /id="VAR_066063"
FT VARIANT 131
FT /note="P -> R (in DIAR1; dbSNP:rs386833481)"
FT /evidence="ECO:0000269|PubMed:28644346,
FT ECO:0000269|PubMed:9554749, ECO:0000269|PubMed:9718329"
FT /id="VAR_007430"
FT VARIANT 134
FT /note="S -> N (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:23274434"
FT /id="VAR_077354"
FT VARIANT 136
FT /note="M -> I (in DIAR1; dbSNP:rs386833483)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066064"
FT VARIANT 175
FT /note="R -> S (in DIAR1; dbSNP:rs386833484)"
FT /evidence="ECO:0000269|PubMed:22779076"
FT /id="VAR_077355"
FT VARIANT 204
FT /note="Y -> D (in DIAR1; dbSNP:rs386833487)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066065"
FT VARIANT 206
FT /note="S -> P (in DIAR1; dbSNP:rs386833488)"
FT /evidence="ECO:0000269|PubMed:11524734"
FT /id="VAR_012777"
FT VARIANT 220
FT /note="H -> P (in DIAR1; dbSNP:rs386833489)"
FT /evidence="ECO:0000269|PubMed:21150650,
FT ECO:0000269|PubMed:21394828"
FT /id="VAR_066066"
FT VARIANT 307
FT /note="C -> W (in dbSNP:rs34407351)"
FT /evidence="ECO:0000269|PubMed:8896562"
FT /id="VAR_007431"
FT VARIANT 318
FT /note="Missing (in DIAR1; dbSNP:rs386833491)"
FT /evidence="ECO:0000269|PubMed:28644346,
FT ECO:0000269|PubMed:8896562, ECO:0000269|PubMed:9554749"
FT /id="VAR_007432"
FT VARIANT 343
FT /note="C -> Y (in DIAR1; dbSNP:rs386833444)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066067"
FT VARIANT 344..349
FT /note="FGIAMV -> DA (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066068"
FT VARIANT 379
FT /note="G -> A (in DIAR1; dbSNP:rs386833446)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066069"
FT VARIANT 394
FT /note="S -> I (in DIAR1; dbSNP:rs1228273365)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077356"
FT VARIANT 398
FT /note="S -> F (in DIAR1; dbSNP:rs143839547)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066070"
FT VARIANT 438
FT /note="S -> P (in DIAR1; dbSNP:rs763669046)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077357"
FT VARIANT 468
FT /note="D -> V (in DIAR1; dbSNP:rs386833454)"
FT /evidence="ECO:0000269|PubMed:11524734"
FT /id="VAR_012778"
FT VARIANT 495
FT /note="Q -> P (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077358"
FT VARIANT 496
FT /note="L -> R (in DIAR1; dbSNP:rs386833457)"
FT /evidence="ECO:0000269|PubMed:9718329"
FT /id="VAR_066071"
FT VARIANT 508
FT /note="C -> R (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077359"
FT VARIANT 520
FT /note="Y -> C (in DIAR1; dbSNP:rs386833462)"
FT /evidence="ECO:0000269|PubMed:19861545"
FT /id="VAR_066072"
FT VARIANT 521
FT /note="K -> N (in DIAR1; dbSNP:rs386833463)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066073"
FT VARIANT 527
FT /note="Missing (in DIAR1; dbSNP:rs386833464)"
FT /evidence="ECO:0000269|PubMed:9554749"
FT /id="VAR_007433"
FT VARIANT 544
FT /note="I -> N (in DIAR1; dbSNP:rs386833467)"
FT /evidence="ECO:0000269|PubMed:21394828"
FT /id="VAR_066074"
FT VARIANT 547
FT /note="A -> E (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077360"
FT VARIANT 554
FT /note="R -> Q (in dbSNP:rs2301635)"
FT /id="VAR_053661"
FT VARIANT 652
FT /note="D -> N (in DIAR1; dbSNP:rs140426439)"
FT /evidence="ECO:0000269|PubMed:19861545"
FT /id="VAR_066075"
FT VARIANT 654
FT /note="S -> P (in DIAR1)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077361"
FT VARIANT 675
FT /note="I -> II (in DIAR1; dbSNP:rs121913031)"
FT /evidence="ECO:0000269|PubMed:28644346"
FT /id="VAR_077362"
FT VARIANT 753
FT /note="N -> S (in dbSNP:rs35342296)"
FT /id="VAR_053662"
FT MUTAGEN 761..764
FT /note="Missing: Loss of interaction with NHERF4. No effect
FT on localization to cell membrane or its exchanger
FT activity."
FT /evidence="ECO:0000269|PubMed:22627094"
SQ SEQUENCE 764 AA; 84505 MW; 694C5BC2D4121F6D CRC64;
MIEPFGNQYI VARPVYSTNA FEENHKKTGR HHKTFLDHLK VCCSCSPQKA KRIVLSLFPI
ASWLPAYRLK EWLLSDIVSG ISTGIVAVLQ GLAFALLVDI PPVYGLYASF FPAIIYLFFG
TSRHISVGPF PILSMMVGLA VSGAVSKAVP DRNATTLGLP NNSNNSSLLD DERVRVAAAA
SVTVLSGIIQ LAFGILRIGF VVIYLSESLI SGFTTAAAVH VLVSQLKFIF QLTVPSHTDP
VSIFKVLYSV FSQIEKTNIA DLVTALIVLL VVSIVKEINQ RFKDKLPVPI PIEFIMTVIA
AGVSYGCDFK NRFKVAVVGD MNPGFQPPIT PDVETFQNTV GDCFGIAMVA FAVAFSVASV
YSLKYDYPLD GNQELIALGL GNIVCGVFRG FAGSTALSRS AVQESTGGKT QIAGLIGAII
VLIVVLAIGF LLAPLQKSVL AALALGNLKG MLMQFAEIGR LWRKDKYDCL IWIMTFIFTI
VLGLGLGLAA SVAFQLLTIV FRTQFPKCST LANIGRTNIY KNKKDYYDMY EPEGVKIFRC
PSPIYFANIG FFRRKLIDAV GFSPLRILRK RNKALRKIRK LQKQGLLQVT PKGFICTVDT
IKDSDEELDN NQIEVLDQPI NTTDLPFHID WNDDLPLNIE VPKISLHSLI LDFSAVSFLD
VSSVRGLKSI LQEFIRIKVD VYIVGTDDDF IEKLNRYEFF DGEVKSSIFF LTIHDAVLHI
LMKKDYSTSK FNPSQEKDGK IDFTINTNGG LRNRVYEVPV ETKF
//
