ENSG00000111700


Homo sapiens

Features
Gene ID: ENSG00000111700
  
Biological name :SLCO1B3
  
Synonyms : Q9NPD5 / SLCO1B3 / solute carrier organic anion transporter family member 1B3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: p12.2
Gene start: 20810702
Gene end: 20916911
  
Corresponding Affymetrix probe sets: 206354_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000261196
Ensembl peptide - ENSP00000370956
Ensembl peptide - ENSP00000442000
Ensembl peptide - ENSP00000443225
NCBI entrez gene - 28234     See in Manteia.
OMIM - 605495
RefSeq - NM_019844
RefSeq - NM_001349920
RefSeq Peptide - NP_001336849
RefSeq Peptide - NP_062818
swissprot - Q9NPD5
swissprot - F5H8K0
swissprot - H0YGG9
Ensembl - ENSG00000111700
  
Related genetic diseases (OMIM): 237450 - Hyperbilirubinemia, Rotor type, digenic, 237450
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
 SLCO1B3ENSGALG00000019277Gallus gallus
 Q9JJL3ENSMUSG00000030236Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC011604.2ENSG0000025704694
Q9Y6L6 / SLCO1B1 / solute carrier organic anion transporter family member 1B1ENSG0000013453878
G3V0H7 / SLCO1B7 / solute carrier organic anion transporter family member 1B7 (putative)ENSG0000020575471
Q9NYB5 / SLCO1C1 / solute carrier organic anion transporter family member 1C1ENSG0000013915544
P46721 / SLCO1A2 / solute carrier organic anion transporter family member 1A2ENSG0000008445338
Q9UIG8 / SLCO3A1 / solute carrier organic anion transporter family member 3A1ENSG0000017646331
Q9H2Y9 / SLCO5A1 / solute carrier organic anion transporter family member 5A1ENSG0000013757129
Q92959 / SLCO2A1 / solute carrier organic anion transporter family member 2A1ENSG0000017464028
Q6ZQN7 / SLCO4C1 / solute carrier organic anion transporter family member 4C1ENSG0000017393028
O94956 / SLCO2B1 / solute carrier organic anion transporter family member 2B1ENSG0000013749128
Q96BD0 / SLCO4A1 / solute carrier organic anion transporter family member 4A1ENSG0000010118725
Q86UG4 / SLCO6A1 / solute carrier organic anion transporter family member 6A1ENSG0000020535920


Protein motifs (from Interpro)
Interpro ID Name
 IPR002350  Kazal domain
 IPR004156  Organic anion transporter polypeptide
 IPR020846  Major facilitator superfamily domain
 IPR036058  Kazal domain superfamily
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0015711 organic anion transport TAS
 biological_processGO:0015721 bile acid and bile salt transport TAS
 biological_processGO:0043252 sodium-independent organic anion transport TAS
 biological_processGO:0055085 transmembrane transport IEA
 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:0016323 basolateral plasma membrane IEA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008514 organic anion transmembrane transporter activity TAS
 molecular_functionGO:0015125 bile acid transmembrane transporter activity TAS
 molecular_functionGO:0015347 sodium-independent organic anion transmembrane transporter activity IBA


Pathways (from Reactome)
Pathway description
Recycling of bile acids and salts
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
Transport of organic anions


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:0000924 Abnormality of the musculoskeletal system "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001000 Abnormality of skin pigmentation 
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 HP:0001945 Fever 
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 HP:0002027 Abdominal pain 
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 HP:0002908 Conjugated hyperbilirubinemia 
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 HP:0004295 Abnormality of the gastric mucosa 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000163631 ALB / P02768 / albumin  / reaction






 

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