ENSG00000100170


Homo sapiens

Features
Gene ID: ENSG00000100170
  
Biological name :SLC5A1
  
Synonyms : P13866 / SLC5A1 / solute carrier family 5 member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.3
Gene start: 32043032
Gene end: 32113029
  
Corresponding Affymetrix probe sets: 206628_at (Human Genome U133 Plus 2.0 Array)   242773_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000266088
Ensembl peptide - ENSP00000444898
NCBI entrez gene - 6523     See in Manteia.
OMIM - 182380
RefSeq - XM_011530331
RefSeq - NM_000343
RefSeq - NM_001256314
RefSeq Peptide - NP_001243243
RefSeq Peptide - NP_000334
swissprot - P13866
Ensembl - ENSG00000100170
  
Related genetic diseases (OMIM): 606824 - Glucose/galactose malabsorption, 606824
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
 slc5a1ENSDARG00000013871Danio rerio
 SLC5A1ENSGALG00000006728Gallus gallus
 Slc5a1ENSMUSG00000011034Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NY91 / SLC5A4 / solute carrier family 5 member 4ENSG0000010019170
P31639 / SLC5A2 / solute carrier family 5 member 2ENSG0000014067558
Q2M3M2 / SLC5A9 / solute carrier family 5 member 9ENSG0000011783454
Q8WWX8 / SLC5A11 / solute carrier family 5 member 11ENSG0000015886551
A0PJK1 / SLC5A10 / solute carrier family 5 member 10ENSG0000015402548
P53794 / SLC5A3 / solute carrier family 5 member 3ENSG0000019874347
Q8N695 / SLC5A8 / solute carrier family 5 member 8ENSG0000025687020
Q1EHB4 / SLC5A12 / solute carrier family 5 member 12ENSG0000014894219
Q9Y289 / SLC5A6 / solute carrier family 5 member 6ENSG0000013807419
Q92911 / SLC5A5 / solute carrier family 5 member 5ENSG0000010564119


Protein motifs (from Interpro)
Interpro ID Name
 IPR001734  Sodium/solute symporter
 IPR018212  Sodium/solute symporter, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001951 intestinal D-glucose absorption IBA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0008643 carbohydrate transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0106001 intestinal hexose absorption TAS
 biological_processGO:1904659 glucose transmembrane transport IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005412 glucose:sodium symporter activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0022857 transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Cellular hexose transport
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
Intestinal hexose absorption


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:0001508 Failure to thrive 
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 HP:0001942 Metabolic acidosis 
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 HP:0001986 Hypertonic dehydration 
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 HP:0002028 Chronic diarrhea 
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 HP:0003076 Glycosuria "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators]
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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:0004924 abnormal oral glucose tolerance 
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 HP:0030143 Hyperactive bowel sounds "An increased amount of bowel sounds." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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