Linked Life Data

CPATH-77301

Source:http://cbio.mskcc.org/cpath#CPATH-77301

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cpath:CPATH-77301http://www.biopax.org/relea...UDP-glucuronosyltransferase 1-1lld:biogrid
cpath:CPATH-77301http://www.biopax.org/relea...UD11_HUMANlld:biogrid
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cpath:CPATH-77301http://www.biopax.org/relea...UGT1-01lld:biogrid
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cpath:CPATH-77301http://www.biopax.org/relea...hUG-BR1lld:biogrid
cpath:CPATH-77301http://www.biopax.org/relea...Bilirubin-specific UDPGT isozyme 1lld:biogrid
cpath:CPATH-77301http://www.biopax.org/relea...2.4.1.17lld:biogrid
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cpath:CPATH-77301http://www.biopax.org/relea...UDPGT 1-1lld:biogrid
cpath:CPATH-77301http://www.biopax.org/relea...UDP-glucuronosyltransferase 1A1lld:biogrid
cpath:CPATH-77301http://www.biopax.org/relea...FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX- alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4- methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. CATALYTIC ACTIVITY: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.26 uM for bilirubin; Vmax=1080 pmol/min/mg enzyme with bilirubin as substrate; SUBUNIT: Part a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX. SUBCELLULAR LOCATION: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=1; Comment=A number of isoforms are produced. The different isozymes have a different N-terminal domain and a common C-terminal domain of 245 residues; Name=1; IsoId=P22309-1; Sequence=Displayed; TISSUE SPECIFICITY: Expressed in liver. Not expressed in skin or kidney. POLYMORPHISM: Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1) [MIM:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug metabolism. DISEASE: Defects in UGT1A1 are the cause of Gilbert syndrome (GILBS) [MIM:143500]. Gilbert syndrome occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints. DISEASE: Defects in UGT1A1 may be a cause of transient familial neonatal hyperbilirubinemia (TNHBB) [MIM:237900]. The defects is characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants. It has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unclear. Defects of UGT1A1 are an underlying cause of the prolonged unconjugated hyperbilirubinemia associated with breast milk. One or more components in the milk may trigger the jaundice in infants who have such mutations. Mutations are identical to those detected in patients with Gilbert syndrome, a risk factor of neonatal non- physiologic hyperbilirubinemia and a genetic factor in fasting hyperbilirubinemia. DISEASE: Defects in UGT1A1 are the cause of Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]. CN1 patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. DISEASE: Defects in UGT1A1 are the cause of Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]. CN2 patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant. SIMILARITY: Belongs to the UDP-glycosyltransferase family. SEQUENCE CAUTION: Sequence=AAA61247.1; Type=Erroneous gene model prediction; Sequence=AAF03522.2; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UGT1A1"; WEB RESOURCE: Name=Wikipedia; Note=Glucuronosyltransferase entry; URL="http://en.wikipedia.org/wiki/Glucuronosyltransferase"; GENE SYNONYMS: GNT1 UGT1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biogrid
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