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P40879

- S26A3_HUMAN

UniProt

P40879 - S26A3_HUMAN

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Protein

Chloride anion exchanger

Gene
SLC26A3, DRA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

GO - Molecular functioni

  1. anion:anion antiporter activity Source: Ensembl
  2. bicarbonate transmembrane transporter activity Source: UniProtKB
  3. chloride transmembrane transporter activity Source: UniProtKB
  4. protein binding Source: IntAct
  5. secondary active sulfate transmembrane transporter activity Source: InterPro
  6. sequence-specific DNA binding transcription factor activity Source: ProtInc
  7. transcription cofactor activity Source: ProtInc
  8. transporter activity Source: ProtInc

GO - Biological processi

  1. anion transport Source: ProtInc
  2. cellular response to cAMP Source: UniProtKB
  3. chloride transmembrane transport Source: GOC
  4. excretion Source: ProtInc
  5. intracellular pH elevation Source: UniProtKB
  6. ion transport Source: Reactome
  7. membrane hyperpolarization Source: UniProtKB
  8. regulation of RNA biosynthetic process Source: GOC
  9. regulation of transcription, DNA-templated Source: GOC
  10. sperm capacitation Source: UniProtKB
  11. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Antiport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_19357. Multifunctional anion exchangers.

Protein family/group databases

TCDBi2.A.53.2.18. the sulfate permease (sulp) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Chloride anion exchanger
Alternative name(s):
Down-regulated in adenoma
Short name:
Protein DRA
Solute carrier family 26 member 3
Gene namesi
Name:SLC26A3
Synonyms:DRA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:3018. SLC26A3.

Subcellular locationi

Apical cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein By similarity
Note: Localized in sperm membranes. Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm tail By similarity.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei77 – 9721Helical; Reviewed predictionAdd
BLAST
Transmembranei100 – 12021Helical; Reviewed predictionAdd
BLAST
Transmembranei125 – 14521Helical; Reviewed predictionAdd
BLAST
Topological domaini146 – 17530Extracellular Reviewed predictionAdd
BLAST
Transmembranei176 – 19621Helical; Reviewed predictionAdd
BLAST
Transmembranei198 – 21821Helical; Reviewed predictionAdd
BLAST
Transmembranei259 – 27921Helical; Reviewed predictionAdd
BLAST
Transmembranei286 – 30621Helical; Reviewed predictionAdd
BLAST
Transmembranei343 – 36321Helical; Reviewed predictionAdd
BLAST
Transmembranei375 – 39521Helical; Reviewed predictionAdd
BLAST
Transmembranei412 – 43221Helical; Reviewed predictionAdd
BLAST
Transmembranei439 – 45921Helical; Reviewed predictionAdd
BLAST
Transmembranei470 – 49021Helical; Reviewed predictionAdd
BLAST
Transmembranei644 – 66421Helical; Reviewed predictionAdd
BLAST
Transmembranei702 – 72221Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB-SubCell
  2. brush border membrane Source: Ensembl
  3. integral component of membrane Source: UniProtKB-KW
  4. membrane Source: UniProtKB
  5. plasma membrane Source: Reactome
  6. sperm midpiece Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]: A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti120 – 1201G → S in DIAR1. 2 Publications
VAR_007428
Natural varianti124 – 1241H → L in DIAR1. 2 Publications
VAR_007429
Natural varianti129 – 1291P → L in DIAR1. 1 Publication
VAR_066062
Natural varianti131 – 1311P → L in DIAR1. 1 Publication
VAR_066063
Natural varianti131 – 1311P → R in DIAR1. 2 Publications
VAR_007430
Natural varianti136 – 1361M → I in DIAR1. 1 Publication
VAR_066064
Natural varianti204 – 2041Y → D in DIAR1. 1 Publication
VAR_066065
Natural varianti206 – 2061S → P in DIAR1. 1 Publication
VAR_012777
Natural varianti220 – 2201H → P in DIAR1. 2 Publications
VAR_066066
Natural varianti317 – 3171Missing in DIAR1. 2 Publications
VAR_007432
Natural varianti343 – 3431C → Y in DIAR1. 1 Publication
VAR_066067
Natural varianti344 – 3496FGIAMV → DA in DIAR1.
VAR_066068
Natural varianti379 – 3791G → A in DIAR1. 1 Publication
VAR_066069
Natural varianti398 – 3981S → F in DIAR1. 1 Publication
Corresponds to variant rs143839547 [ dbSNP | Ensembl ].
VAR_066070
Natural varianti468 – 4681D → V in DIAR1. 1 Publication
VAR_012778
Natural varianti496 – 4961L → R in DIAR1. 1 Publication
VAR_066071
Natural varianti520 – 5201Y → C in DIAR1. 1 Publication
VAR_066072
Natural varianti521 – 5211K → N in DIAR1. 1 Publication
VAR_066073
Natural varianti527 – 5271Missing in DIAR1. 1 Publication
VAR_007433
Natural varianti544 – 5441I → N in DIAR1. 1 Publication
VAR_066074
Natural varianti652 – 6521D → N in DIAR1. 1 Publication
VAR_066075

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi214700. phenotype.
Orphaneti53689. Congenital chloride diarrhea.
PharmGKBiPA35044.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 764764Chloride anion exchangerPRO_0000080161Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi153 – 1531N-linked (GlcNAc...)1 Publication
Glycosylationi161 – 1611N-linked (GlcNAc...)1 Publication
Glycosylationi165 – 1651N-linked (GlcNAc...)1 Publication

Post-translational modificationi

N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP40879.
PRIDEiP40879.

PTM databases

PhosphoSiteiP40879.

Expressioni

Developmental stagei

Expression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon.

Gene expression databases

ArrayExpressiP40879.
BgeeiP40879.
CleanExiHS_SLC26A3.
GenevestigatoriP40879.

Organism-specific databases

HPAiHPA036055.

Interactioni

Subunit structurei

Interacts with CFTR, SLC26A6 and SLC9A3R1 By similarity. Interacts with PDZK1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SLC9A3R2Q155995EBI-8542350,EBI-1149760

Protein-protein interaction databases

BioGridi108145. 1 interaction.
IntActiP40879. 1 interaction.
MINTiMINT-1787198.
STRINGi9606.ENSP00000345873.

Structurei

3D structure databases

ProteinModelPortaliP40879.
SMRiP40879. Positions 645-718.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini525 – 720196STASAdd
BLAST

Sequence similaritiesi

Contains 1 STAS domain.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0659.
HOGENOMiHOG000006546.
HOVERGENiHBG000639.
InParanoidiP40879.
KOiK14078.
OMAiYIVARPV.
OrthoDBiEOG76T9QT.
PhylomeDBiP40879.
TreeFamiTF313784.

Family and domain databases

Gene3Di3.30.750.24. 2 hits.
InterProiIPR018045. S04_transporter_CS.
IPR002645. STAS_dom.
IPR001902. SulP_transpt.
IPR011547. Sulph_transpt.
[Graphical view]
PfamiPF01740. STAS. 1 hit.
PF00916. Sulfate_transp. 1 hit.
[Graphical view]
SUPFAMiSSF52091. SSF52091. 2 hits.
TIGRFAMsiTIGR00815. sulP. 1 hit.
PROSITEiPS01130. SLC26A. 1 hit.
PS50801. STAS. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P40879-1 [UniParc]FASTAAdd to Basket

« Hide

MIEPFGNQYI VARPVYSTNA FEENHKKTGR HHKTFLDHLK VCCSCSPQKA    50
KRIVLSLFPI ASWLPAYRLK EWLLSDIVSG ISTGIVAVLQ GLAFALLVDI 100
PPVYGLYASF FPAIIYLFFG TSRHISVGPF PILSMMVGLA VSGAVSKAVP 150
DRNATTLGLP NNSNNSSLLD DERVRVAAAA SVTVLSGIIQ LAFGILRIGF 200
VVIYLSESLI SGFTTAAAVH VLVSQLKFIF QLTVPSHTDP VSIFKVLYSV 250
FSQIEKTNIA DLVTALIVLL VVSIVKEINQ RFKDKLPVPI PIEFIMTVIA 300
AGVSYGCDFK NRFKVAVVGD MNPGFQPPIT PDVETFQNTV GDCFGIAMVA 350
FAVAFSVASV YSLKYDYPLD GNQELIALGL GNIVCGVFRG FAGSTALSRS 400
AVQESTGGKT QIAGLIGAII VLIVVLAIGF LLAPLQKSVL AALALGNLKG 450
MLMQFAEIGR LWRKDKYDCL IWIMTFIFTI VLGLGLGLAA SVAFQLLTIV 500
FRTQFPKCST LANIGRTNIY KNKKDYYDMY EPEGVKIFRC PSPIYFANIG 550
FFRRKLIDAV GFSPLRILRK RNKALRKIRK LQKQGLLQVT PKGFICTVDT 600
IKDSDEELDN NQIEVLDQPI NTTDLPFHID WNDDLPLNIE VPKISLHSLI 650
LDFSAVSFLD VSSVRGLKSI LQEFIRIKVD VYIVGTDDDF IEKLNRYEFF 700
DGEVKSSIFF LTIHDAVLHI LMKKDYSTSK FNPSQEKDGK IDFTINTNGG 750
LRNRVYEVPV ETKF 764
Length:764
Mass (Da):84,505
Last modified:February 1, 1995 - v1
Checksum:i694C5BC2D4121F6D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti68 – 681R → Q.
Corresponds to variant rs10280704 [ dbSNP | Ensembl ].
VAR_053660
Natural varianti120 – 1201G → S in DIAR1. 2 Publications
VAR_007428
Natural varianti124 – 1241H → L in DIAR1. 2 Publications
VAR_007429
Natural varianti129 – 1291P → L in DIAR1. 1 Publication
VAR_066062
Natural varianti131 – 1311P → L in DIAR1. 1 Publication
VAR_066063
Natural varianti131 – 1311P → R in DIAR1. 2 Publications
VAR_007430
Natural varianti136 – 1361M → I in DIAR1. 1 Publication
VAR_066064
Natural varianti204 – 2041Y → D in DIAR1. 1 Publication
VAR_066065
Natural varianti206 – 2061S → P in DIAR1. 1 Publication
VAR_012777
Natural varianti220 – 2201H → P in DIAR1. 2 Publications
VAR_066066
Natural varianti307 – 3071C → W.1 Publication
Corresponds to variant rs34407351 [ dbSNP | Ensembl ].
VAR_007431
Natural varianti317 – 3171Missing in DIAR1. 2 Publications
VAR_007432
Natural varianti343 – 3431C → Y in DIAR1. 1 Publication
VAR_066067
Natural varianti344 – 3496FGIAMV → DA in DIAR1.
VAR_066068
Natural varianti379 – 3791G → A in DIAR1. 1 Publication
VAR_066069
Natural varianti398 – 3981S → F in DIAR1. 1 Publication
Corresponds to variant rs143839547 [ dbSNP | Ensembl ].
VAR_066070
Natural varianti468 – 4681D → V in DIAR1. 1 Publication
VAR_012778
Natural varianti496 – 4961L → R in DIAR1. 1 Publication
VAR_066071
Natural varianti520 – 5201Y → C in DIAR1. 1 Publication
VAR_066072
Natural varianti521 – 5211K → N in DIAR1. 1 Publication
VAR_066073
Natural varianti527 – 5271Missing in DIAR1. 1 Publication
VAR_007433
Natural varianti544 – 5441I → N in DIAR1. 1 Publication
VAR_066074
Natural varianti554 – 5541R → Q.
Corresponds to variant rs2301635 [ dbSNP | Ensembl ].
VAR_053661
Natural varianti652 – 6521D → N in DIAR1. 1 Publication
VAR_066075
Natural varianti753 – 7531N → S.
Corresponds to variant rs35342296 [ dbSNP | Ensembl ].
VAR_053662

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L02785 mRNA. Translation: AAA58443.1.
BC025671 mRNA. Translation: AAH25671.1.
CCDSiCCDS5748.1.
PIRiA47456.
RefSeqiNP_000102.1. NM_000111.2.
XP_006715936.1. XM_006715873.1.
UniGeneiHs.1650.

Genome annotation databases

EnsembliENST00000340010; ENSP00000345873; ENSG00000091138.
GeneIDi1811.
KEGGihsa:1811.
UCSCiuc003ver.2. human.

Polymorphism databases

DMDMi729367.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L02785 mRNA. Translation: AAA58443.1 .
BC025671 mRNA. Translation: AAH25671.1 .
CCDSi CCDS5748.1.
PIRi A47456.
RefSeqi NP_000102.1. NM_000111.2.
XP_006715936.1. XM_006715873.1.
UniGenei Hs.1650.

3D structure databases

ProteinModelPortali P40879.
SMRi P40879. Positions 645-718.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108145. 1 interaction.
IntActi P40879. 1 interaction.
MINTi MINT-1787198.
STRINGi 9606.ENSP00000345873.

Protein family/group databases

TCDBi 2.A.53.2.18. the sulfate permease (sulp) family.

PTM databases

PhosphoSitei P40879.

Polymorphism databases

DMDMi 729367.

Proteomic databases

PaxDbi P40879.
PRIDEi P40879.

Protocols and materials databases

DNASUi 1811.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000340010 ; ENSP00000345873 ; ENSG00000091138 .
GeneIDi 1811.
KEGGi hsa:1811.
UCSCi uc003ver.2. human.

Organism-specific databases

CTDi 1811.
GeneCardsi GC07M107405.
HGNCi HGNC:3018. SLC26A3.
HPAi HPA036055.
MIMi 126650. gene.
214700. phenotype.
neXtProti NX_P40879.
Orphaneti 53689. Congenital chloride diarrhea.
PharmGKBi PA35044.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0659.
HOGENOMi HOG000006546.
HOVERGENi HBG000639.
InParanoidi P40879.
KOi K14078.
OMAi YIVARPV.
OrthoDBi EOG76T9QT.
PhylomeDBi P40879.
TreeFami TF313784.

Enzyme and pathway databases

Reactomei REACT_19357. Multifunctional anion exchangers.

Miscellaneous databases

GeneWikii SLC26A3.
GenomeRNAii 1811.
NextBioi 7381.
PROi P40879.
SOURCEi Search...

Gene expression databases

ArrayExpressi P40879.
Bgeei P40879.
CleanExi HS_SLC26A3.
Genevestigatori P40879.

Family and domain databases

Gene3Di 3.30.750.24. 2 hits.
InterProi IPR018045. S04_transporter_CS.
IPR002645. STAS_dom.
IPR001902. SulP_transpt.
IPR011547. Sulph_transpt.
[Graphical view ]
Pfami PF01740. STAS. 1 hit.
PF00916. Sulfate_transp. 1 hit.
[Graphical view ]
SUPFAMi SSF52091. SSF52091. 2 hits.
TIGRFAMsi TIGR00815. sulP. 1 hit.
PROSITEi PS01130. SLC26A. 1 hit.
PS50801. STAS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas."
    Schweinfest C.W., Henderson K.W., Suster S., Kondoh N., Papas T.S.
    Proc. Natl. Acad. Sci. U.S.A. 90:4166-4170(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Colon.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  3. "Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor."
    Sandal N.N., Marcker K.A.
    Trends Biochem. Sci. 19:19-19(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: SIMILARITY TO SULFATE PERMEASES.
  4. "The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3-exchanger DRA in rabbit small intestinal mucosa."
    Rossmann H., Jacob P., Baisch S., Hassoun R., Meier J., Natour D., Yahya K., Yun C., Biber J., Lackner K.J., Fiehn W., Gregor M., Seidler U., Lamprecht G.
    Biochemistry 44:4477-4487(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PDZK1.
  5. "Role of N-glycosylation in cell surface expression and protection against proteolysis of the intestinal anion exchanger SLC26A3."
    Hayashi H., Yamashita Y.
    Am. J. Physiol. 302:C781-C795(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-153; ASN-161 AND ASN-165, SUBCELLULAR LOCATION.
  6. Cited for: VARIANTS DIAR1 LEU-124 AND VAL-317 DEL, VARIANT TRP-307.
  7. "Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait."
    Hoglund P., Auranen M., Socha J., Popinska K., Nazer H., Rajaram U., Al Sanie A., Al-Ghanim M., Holmberg C., de la Chapelle A., Kere J.
    Am. J. Hum. Genet. 63:760-768(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DIAR1 SER-120; LEU-124; ARG-131 AND ARG-496.
  8. "Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene."
    Hoeglund P., Haila S., Gustavson K.-H., Taipale M., Hannula K., Popinska K., Holmberg C., Socha J., de la Chapelle A., Kere J.
    Hum. Mutat. 11:321-327(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DIAR1 SER-120; ARG-131; VAL-317 DEL AND TYR-527 DEL.
  9. "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea."
    Hoeglund P., Sormaala M., Haila S., Socha J., Rajaram U., Scheurlen W., Sinaasappel M., de Jonge H., Holmberg C., Yoshikawa H., Kere J.
    Hum. Mutat. 18:233-242(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DIAR1 PRO-206 AND VAL-468.
  10. Cited for: VARIANTS DIAR1 CYS-520 AND ASN-652.
  11. "Update on SLC26A3 mutations in congenital chloride diarrhea."
    Wedenoja S., Pekansaari E., Hoglund P., Makela S., Holmberg C., Kere J.
    Hum. Mutat. 32:715-722(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DIAR1 LEU-129; LEU-131; ILE-136; ASP-204; PRO-220; TYR-343; 344-PHE--VAL-349 DELINS ASP-ALA; ALA-379; PHE-398; ASN-521 AND ASN-544.
  12. "Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea."
    Rodriguez-Herrera A., Navas-Lopez V.M., Redondo-Nevado J., Gutierrez G.
    J. Pediatr. Gastroenterol. Nutr. 52:106-110(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DIAR1 PRO-220.

Entry informationi

Entry nameiS26A3_HUMAN
AccessioniPrimary (citable) accession number: P40879
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: September 3, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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