ENSG00000091138


Homo sapiens

Features
Gene ID: ENSG00000091138
  
Biological name :SLC26A3
  
Synonyms : P40879 / SLC26A3 / solute carrier family 26 member 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q31.1
Gene start: 107765467
Gene end: 107803225
  
Corresponding Affymetrix probe sets: 206143_at (Human Genome U133 Plus 2.0 Array)   215657_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368375
Ensembl peptide - ENSP00000395955
Ensembl peptide - ENSP00000345873
NCBI entrez gene - 1811     See in Manteia.
OMIM - 126650
RefSeq - NM_000111
RefSeq - XM_011515867
RefSeq Peptide - NP_000102
swissprot - C9JFJ2
swissprot - F8WBL6
swissprot - P40879
Ensembl - ENSG00000091138
  
Related genetic diseases (OMIM): 214700 - Diarrhea 1, secretory chloride, congenital, 214700
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc26a3.1ENSDARG00000007371Danio rerio
 slc26a3.2ENSDARG00000003615Danio rerio
 SLC26A3ENSGALG00000007959Gallus gallus
 Q9WVC8ENSMUSG00000001225Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O43511 / SLC26A4 / solute carrier family 26 member 4ENSG0000009113746
P58743 / SLC26A5 / solute carrier family 26 member 5ENSG0000017061537
Q9BXS9 / SLC26A6 / solute carrier family 26 member 6ENSG0000022569736
Q7LBE3 / SLC26A9 / solute carrier family 26 member 9ENSG0000017450233
P50443 / SLC26A2 / solute carrier family 26 member 2ENSG0000015585029
Q96RN1 / SLC26A8 / solute carrier family 26 member 8ENSG0000011205329
Q9H2B4 / SLC26A1 / solute carrier family 26 member 1ENSG0000014521728
Q8TE54 / SLC26A7 / solute carrier family 26 member 7ENSG0000014760627
Q8NG04 / SLC26A10 / solute carrier family 26 member 10ENSG0000013550224


Protein motifs (from Interpro)
Interpro ID Name
 IPR001902  SLC26A/SulP transporter
 IPR002645  STAS domain
 IPR011547  SLC26A/SulP transporter domain
 IPR018045  Sulphate anion transporter, conserved site
 IPR030321  Solute carrier family 26 member 3 (DRA)
 IPR036513  STAS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0006820 anion transport TAS
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0007588 excretion TAS
 biological_processGO:0008272 sulfate transport IEA
 biological_processGO:0015701 bicarbonate transport IEA
 biological_processGO:0019532 oxalate transport IEA
 biological_processGO:0042391 regulation of membrane potential IBA
 biological_processGO:0048240 sperm capacitation IEA
 biological_processGO:0051453 regulation of intracellular pH IBA
 biological_processGO:0051454 intracellular pH elevation IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060081 membrane hyperpolarization IEA
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0098656 anion transmembrane transport IEA
 biological_processGO:1902358 sulfate transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IBA
 biological_processGO:1903506 regulation of nucleic acid-templated transcription IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0097225 sperm midpiece IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003712 transcription coregulator activity TAS
 molecular_functionGO:0005215 transporter activity TAS
 molecular_functionGO:0005254 chloride channel activity IBA
 molecular_functionGO:0005452 inorganic anion exchanger activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008271 secondary active sulfate transmembrane transporter activity IEA
 molecular_functionGO:0015106 bicarbonate transmembrane transporter activity IEA
 molecular_functionGO:0015108 chloride transmembrane transporter activity IEA
 molecular_functionGO:0015116 sulfate transmembrane transporter activity IEA
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0015301 anion:anion antiporter activity IEA
 molecular_functionGO:0019531 oxalate transmembrane transporter activity IBA


Pathways (from Reactome)
Pathway description
Multifunctional anion exchangers
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000841 Hyperactive renin-angiotensin system 
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 HP:0000859 Increased plasma aldosterone 
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 HP:0001507 Growth abnormality 
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001561 Polyhydramnios 
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 HP:0001622 Premature birth 
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 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
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 HP:0001944 Dehydration 
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 HP:0001948 Alkalosis 
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 HP:0002014 Diarrhea 
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 HP:0002900 Hypokalemia 
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 HP:0002902 Hyponatremia 
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 HP:0003113 Hypochloremia 
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 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
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 HP:0200114 Metabolic alkalosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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