ENSG00000073734
Homo sapiens bile ABCB11 transmembrane activity atpase transporter transport abc acid membrane domain intrahepatic cholestasis type salt canalicular atp coupled plasma integral component binding acids salts jaundice transporter-like aaa conserved site p-loop containing
Features Gene ID: ENSG00000073734 Biological name :ABCB11 Synonyms : ABCB11 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 2 Strand: -1 Band: q31.1 Gene start: 168922938 Gene end: 169031322 Corresponding Affymetrix probe sets: 208288_at (Human Genome U133 Plus 2.0 Array) 211224_s_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000002638178647
See in Manteia .
603201 XM_017005167 NM_003742 XM_011512081 XM_017005165 XM_017005166 XM_006712817 XM_011512077 XM_011512078 XM_011512080 NP_003733 O95342 H7C486 ENSG00000073734 Related genetic diseases (OMIM): 601847 - Cholestasis, progressive familial intrahepatic 2, 601847 605479 - Cholestasis, benign recurrent intrahepatic, 2, 605479
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 )Paralog prediction (from Ensembl ) ABCB1 / P08183 / ATP binding cassette subfamily B member 1 ENSG00000085563 49 ABCB4 / P21439 / ATP binding cassette subfamily B member 4 ENSG00000005471 48 ABCB5 / Q2M3G0 / ATP binding cassette subfamily B member 5 ENSG00000004846 44
Protein motifs (from Interpro ) IPR003439 ABC transporter-like IPR003593 AAA+ ATPase domain IPR011527 ABC transporter type 1, transmembrane domain IPR017871 ABC transporter, conserved site IPR027417 P-loop containing nucleoside triphosphate hydrolase IPR030278 Bile salt export pump IPR036640 ABC transporter type 1, transmembrane domain superfamily
Gene Ontology (GO ) biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic process cellular metabolic process primary metabolic process small molecule metabolic process organic substance metabolic process macromolecule localization establishment of localization biosynthetic processbiosynthetic process cellular metabolic pcellular metabolic process primary metabolic prprimary metabolic process small molecule metabsmall molecule metabolic process organic substance meorganic substance metabolic process macromolecule localimacromolecule localization establishment of locestablishment of localization organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding carbohydrate derivative binding drug binding transmembrane transporter activity hydrolase activity lipid transporter activity organic cyclic organic cyclic compound binding heterocyclic coheterocyclic compound binding small molecule small molecule binding ion bindingion binding carbohydrate decarbohydrate derivative binding drug bindingdrug binding transmembrane ttransmembrane transporter activity hydrolase activhydrolase activity lipid transportlipid transporter activity cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cell membrane cell junction organelle extracellular region cellcell membranemembrane cell junctioncell junction organelleorganelle extracellular regionextracellular region
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recessive inheritance Integument abnormality Abnormality of the digestive system Neoplasia Growth abnormality Immunological abnormality Metabolism abnormality Age of onset Mortality/Aging Autosomal recesAutosomal recessive inheritance Integument abnoIntegument abnormality Abnormality of Abnormality of the digestive system NeoplasiaNeoplasia Growth abnormalGrowth abnormality Immunological aImmunological abnormality Metabolism abnoMetabolism abnormality Age of onsetAge of onset Mortality/AgingMortality/Aging 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]
Show 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]
Show HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
Show HP:0001046 Intermittent jaundice "Jaundice that is sometimes present, sometimes not." [HPO:curators]
Show HP:0001081 Cholelithiasis
Show HP:0001394 Cirrhosis
Show HP:0001402 Hepatocellular carcinoma
Show HP:0001406 Intrahepatic cholestasis
Show HP:0001508 Failure to thrive
Show HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show HP:0002014 Diarrhea
Show HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show HP:0002630 Fat malabsorption
Show HP:0002908 Conjugated hyperbilirubinemia
Show HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
Show HP:0003593 Early onset
Show HP:0003819 Death in childhood
Show HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome )No match
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