ENSG00000145217


Homo sapiens

Features
Gene ID: ENSG00000145217
  
Biological name :SLC26A1
  
Synonyms : Q9H2B4 / SLC26A1 / solute carrier family 26 member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p16.3
Gene start: 979073
Gene end: 993440
  
Corresponding Affymetrix probe sets: 1552843_at (Human Genome U133 Plus 2.0 Array)   205058_at (Human Genome U133 Plus 2.0 Array)   220733_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354721
Ensembl peptide - ENSP00000381528
Ensembl peptide - ENSP00000381532
Ensembl peptide - ENSP00000483506
NCBI entrez gene - 10861     See in Manteia.
OMIM - 610130
RefSeq - NM_022042
RefSeq - NM_134425
RefSeq - NM_213613
RefSeq Peptide - NP_071325
RefSeq Peptide - NP_602297
RefSeq Peptide - NP_998778
swissprot - Q9H2B4
Ensembl - ENSG00000145217
  
Related genetic diseases (OMIM): 167030 - ?Nephrolithiasis, calcium oxalate, 167030
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
 slc26a1ENSDARG00000029832Danio rerio
 SLC26A1ENSGALG00000027423Gallus gallus
 P58735ENSMUSG00000046959Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P50443 / SLC26A2 / solute carrier family 26 member 2ENSG0000015585046
Q9BXS9 / SLC26A6 / solute carrier family 26 member 6ENSG0000022569733
P58743 / SLC26A5 / solute carrier family 26 member 5ENSG0000017061532
P40879 / SLC26A3 / solute carrier family 26 member 3ENSG0000009113831
O43511 / SLC26A4 / solute carrier family 26 member 4ENSG0000009113731
Q7LBE3 / SLC26A9 / solute carrier family 26 member 9ENSG0000017450227
Q8NG04 / SLC26A10 / solute carrier family 26 member 10ENSG0000013550225
Q8TE54 / SLC26A7 / solute carrier family 26 member 7ENSG0000014760624
Q96RN1 / SLC26A8 / solute carrier family 26 member 8ENSG0000011205324


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
 IPR030331  Solute carrier family 26 member 1
 IPR036513  STAS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0006821 chloride transport ISS
 biological_processGO:0008272 sulfate transport ISS
 biological_processGO:0015701 bicarbonate transport IBA
 biological_processGO:0019532 oxalate transport ISS
 biological_processGO:0042391 regulation of membrane potential IBA
 biological_processGO:0050428 3"-phosphoadenosine 5"-phosphosulfate biosynthetic process TAS
 biological_processGO:0051453 regulation of intracellular pH IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1902358 sulfate transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 molecular_functionGO:0005254 chloride channel activity IBA
 molecular_functionGO:0008271 secondary active sulfate transmembrane transporter activity IEA
 molecular_functionGO:0015106 bicarbonate transmembrane transporter activity IBA
 molecular_functionGO:0015108 chloride transmembrane transporter activity ISS
 molecular_functionGO:0015116 sulfate transmembrane transporter activity TAS
 molecular_functionGO:0015297 antiporter activity IEA
 molecular_functionGO:0015301 anion:anion antiporter activity ISS
 molecular_functionGO:0019531 oxalate transmembrane transporter activity ISS


Pathways (from Reactome)
Pathway description
Transport and synthesis of PAPS
Multifunctional anion exchangers


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:0000074 Ureteropelvic junction obstruction 
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 HP:0001919 Acute renal failure 
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 HP:0003159 Hyperoxaluria 
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 HP:0008672 Calcium oxalate nephrolithiasis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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