Reviewed, UniProtKB/Swiss-Prot P22309 (UD11_HUMAN)

Names and origin

Protein names

Recommended name:
    UDP-glucuronosyltransferase 1-1
    EC=2.4.1.17
Alternative name(s):
    UDP-glucuronosyltransferase 1A1
      Short name=UDPGT
      Short name=UGT1*1
    UGT1-01
      Short name=UGT1.1
    UGT-1A
      Short name=UGT1A
    Bilirubin-specific UDPGT isozyme 1
    HUG-BR1

Gene names

Name:	UGT1A1
Synonyms:	GNT1, UGT1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	533 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

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.
Catalytic activity	UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.
Subunit structure	Part a large chaperone multiprotein complex comprising CABP1, DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, 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.
Tissue specificity	Expressed in liver. Not expressed in skin or kidney. Ref.2
Involvement in disease	Defects in UGT1A1 are the cause of Gilbert syndrome [MIM:143500]. Gilbert syndrome occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague nonspecific complaints. Ref.15 Ref.19 Ref.20 Ref.24 Defects in UGT1A1 may be a cause of transient familial neonatal hyperbilirubinemia [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 [MIM:143500], a risk factor of neonatal non-physiologic hyperbilirubinemia and a genetic factor in fasting hyperbilirubinemia. Ref.21 Defects in UGT1A1 are the cause of Crigler-Najjar syndrome type I (CN-I) [MIM:218800]. CN-I patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN-I inheritance is autosomal recessive. Ref.20 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18 Ref.22 Ref.23 Ref.25 Ref.26 Defects in UGT1A1 are the cause of Crigler-Najjar syndrome type II (CN-II) [MIM:606785]. CN-II 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. CN-II inheritance is autosomal dominant.
Sequence similarities	Belongs to the UDP-glycosyltransferase family.
Sequence caution	The sequence AAA61247.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence AAF03522.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Signal Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	bilirubin conjugation Ref.2 Traceable author statement. Source: ProtInc digestion Ref.1 Non-traceable author statement. Source: ProtInc estrogen metabolic process Traceable author statement. Source: ProtInc
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW microsome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	glucuronosyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 1 isoform produced by alternative splicing. [Select]

Note: A number of isoforms are produced. The different isozymes have a different N-terminal domain and a common C-terminal domain of 245 residues.

Isoform 1 (identifier: P22309-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 533	508	UDP-glucuronosyltransferase 1-1		PRO_0000036000
Regions
	Transmembrane	491 – 507	17	Potential
Amino acid modifications
	Glycosylation	102	1	N-linked (GlcNAc...)
	Glycosylation	295	1	N-linked (GlcNAc...) Potential
	Glycosylation	347	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	15	1	L → R in CN-II; mutant protein rapidly degraded by the proteasome owing to its mislocalization in the cell. Ref.20 Ref.16 Ref.25		VAR_019410
	Natural variant	34	1	P → Q in CN-II. Ref.26		VAR_026134
	Natural variant	39	1	H → D in CN-I. Ref.20		VAR_026135
	Natural variant	71	1	G → R in CN-II, Gilbert syndrome and transient familial neonatal hyperbilirubinemia. dbSNP rs4148323.		VAR_009504
	Natural variant	83	1	F → L in Gilbert syndrome.		VAR_026136
	Natural variant	170	1	Missing in CN-I and CN-II; has nearly normal activity at pH 7.6 and is inactive at pH 6.4.		VAR_007695
	Natural variant	175	1	L → Q in CN-II. Ref.20 Ref.14 Ref.22		VAR_019411
	Natural variant	177	1	C → R in CN-I. Ref.20 Ref.14		VAR_007697
	Natural variant	209	1	R → W in CN-II. Ref.20 Ref.14 Ref.18 Ref.26		VAR_007698
	Natural variant	225	1	V → G in CN-II. Ref.20 Ref.26		VAR_026137
	Natural variant	229	1	P → Q in CN-II and Gilbert syndrome.		VAR_009505
	Natural variant	276	1	G → R in CN-I. Ref.20 Ref.14		VAR_007699
	Natural variant	291	1	E → V in CN-I. Ref.20		VAR_026138
	Natural variant	292	1	A → V in CN-I. Ref.12		VAR_007700
	Natural variant	294	1	I → T in Gilbert syndrome and CN-II; 40-55% normal activity; normal Km for bilirubin; when homozygous far less repressive and generates the mild Gilbert phenotype.		VAR_026139
	Natural variant	308	1	G → E in CN-I; no enzyme activity. Ref.20 Ref.12 Ref.13		VAR_007701
	Natural variant	331	1	Q → R in CN-II. Ref.20 Ref.10		VAR_007702
	Natural variant	336	1	R → L in CN-I and CN-II.		VAR_026140
	Natural variant	336	1	R → Q in CN-I. Ref.20 Ref.26		VAR_026141
	Natural variant	336	1	R → W in CN-II. Ref.26		VAR_026142
	Natural variant	354	1	W → R in CN-II. Ref.26		VAR_026143
	Natural variant	357	1	Q → R in CN-I. Ref.20 Ref.12 Ref.26		VAR_007703
	Natural variant	367	1	R → G in Gilbert syndrome.		VAR_012283
	Natural variant	368	1	A → T in CN-I. Ref.20 Ref.12		VAR_007704
	Natural variant	375	1	S → F in CN-I; no enzyme activity. Ref.8 Ref.13 Ref.14 Ref.26		VAR_007705
	Natural variant	376	1	H → R in CN-I and CN-II.		VAR_026144
	Natural variant	377	1	G → V in CN-I and CN-II.		VAR_026145
	Natural variant	381	1	S → R in CN-I. Ref.20 Ref.12		VAR_007706
	Natural variant	387	1	P → S in CN-I. Ref.20 Ref.26		VAR_026146
	Natural variant	395	1	G → V in CN-I. Ref.26		VAR_026147
	Natural variant	400	1	N → D in CN-II. Ref.23		VAR_019412
	Natural variant	401	1	A → P in CN-I. Ref.20 Ref.12		VAR_007707
	Natural variant	403	1	R → C in CN-II. Ref.26		VAR_026148
	Natural variant	428	1	K → E in CN-I. Ref.20 Ref.12		VAR_007708
	Natural variant	461	1	W → R in CN-I and CN-II.		VAR_026149
	Natural variant	478	1	A → D in CN-II. Ref.26		VAR_026150
	Natural variant	486	1	Y → D in CN-II, Gilbert syndrome and transient familial neonatal hyperbilirubinemia.		VAR_007709
	Natural variant	511	1	A → P: dbSNP rs1042709.		VAR_025355

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 1, 1991. Version 1. Checksum: 19C90231AD0EB547	FASTA	533	59,591
	10 20 30 40 50 60 MAVESQGGRP LVLGLLLCVL GPVVSHAGKI LLIPVDGSHW LSMLGAIQQL QQRGHEIVVL 70 80 90 100 110 120 APDASLYIRD GAFYTLKTYP VPFQREDVKE SFVSLGHNVF ENDSFLQRVI KTYKKIKKDS 130 140 150 160 170 180 AMLLSGCSHL LHNKELMASL AESSFDVMLT DPFLPCSPIV AQYLSLPTVF FLHALPCSLE 190 200 210 220 230 240 FEATQCPNPF SYVPRPLSSH SDHMTFLQRV KNMLIAFSQN FLCDVVYSPY ATLASEFLQR 250 260 270 280 290 300 EVTVQDLLSS ASVWLFRSDF VKDYPRPIMP NMVFVGGINC LHQNPLSQEF EAYINASGEH 310 320 330 340 350 360 GIVVFSLGSM VSEIPEKKAM AIADALGKIP QTVLWRYTGT RPSNLANNTI LVKWLPQNDL 370 380 390 400 410 420 LGHPMTRAFI THAGSHGVYE SICNGVPMVM MPLFGDQMDN AKRMETKGAG VTLNVLEMTS 430 440 450 460 470 480 EDLENALKAV INDKSYKENI MRLSSLHKDR PVEPLDLAVF WVEFVMRHKG APHLRPAAHD 490 500 510 520 530 LTWYQYHSLD VIGFLLAVVL TVAFITFKCC AYGYRKCLGK KGRVKKAHKS KTH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells." Ritter J.K., Crawford J.M., Owens I.S. J. Biol. Chem. 266:1043-1047(1991) [PubMed: 1898728] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[2]	"A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini." Ritter J.K., Chen F., Sheen Y.Y., Tran H.M., Kimura S., Yeatman M.T., Owens I.S. J. Biol. Chem. 267:3257-3261(1992) [PubMed: 1339448] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
[3]	"Thirteen UDP-glucuronosyltransferase genes are encoded at the human UGT1 gene complex locus." Gong Q.H., Cho J.W., Huang T., Potter C., Gholami N., Basu N.K., Kubota S., Carvalho S., Pennington M.W., Owens I.S., Popescu N.C. Pharmacogenetics 11:357-368(2001) [PubMed: 11434514] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome." Ueyama H., Koiwai O., Soeda Y., Sato H., Satoh Y., Ohkubo I., Doida Y. Hepatol. Res. 9:152-163(1997) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-50.
[6]	"A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins." Meunier L., Usherwood Y.-K., Chung K.T., Hendershot L.M. Mol. Biol. Cell 13:4456-4469(2002) [PubMed: 12475965] [Abstract] Cited for: COMPONENT OF A CHAPERONE COMPLEX.
[7]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-102, MASS SPECTROMETRY. Tissue: Liver.
[8]	"Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I." Bosma P.J., Chowdhury J.R., Huang T.-J., Lahiri P., Elferink R.P.J.O., van Es H.H.G., Lederstein M., Whitington P.F., Jansen P.L.M., Chowdhury N.R. FASEB J. 6:2859-2863(1992) [PubMed: 1634050] [Abstract] Cited for: VARIANT CN-I PHE-375.
[9]	"Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II." Aono S., Yamada Y., Keino H., Hanada N., Nakagawa T., Sasaoka Y., Yazawa T., Sato H., Koiwai O. Biochem. Biophys. Res. Commun. 197:1239-1244(1993) [PubMed: 8280139] [Abstract] Cited for: VARIANTS CN-II ARG-71 AND ASP-486.
[10]	"Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2." Moghrabi N., Clarke D.J., Boxer M., Burchell B. Genomics 18:171-173(1993) [PubMed: 8276413] [Abstract] Cited for: VARIANT CN-II ARG-331.
[11]	"A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase." Ritter J.K., Yeatman M.T., Kaiser C., Gridelli B., Owens I.S. J. Biol. Chem. 268:23573-23579(1993) [PubMed: 8226884] [Abstract] Cited for: VARIANT CN-I PHE-170 DEL.
[12]	"Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases." Labrune P., Myara A., Hadchouel M., Ronchi F., Bernard O., Trivin F., Roy Chowdhury N., Roy Chowdhury J., Munnich A., Odievre M. Hum. Genet. 94:693-697(1994) [PubMed: 7989045] [Abstract] Cited for: VARIANTS CN-I VAL-292; GLU-308; ARG-357; THR-368; ARG-381; PRO-401 AND GLU-428.
[13]	"Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro." Erps L.T., Ritter J.K., Hersh J.H., Blossom D., Martin N.C., Owens I.S. J. Clin. Invest. 93:564-570(1994) [PubMed: 7906695] [Abstract] Cited for: VARIANTS CN-I PHE-375 AND SER-308, CHARACTERIZATION OF VARIANTS CN-I PHE-375 AND SER-308.
[14]	"Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase." Seppen J., Bosma P.J., Goldhoorn B.G., Bakker C.T.M., Roy Chowdhury J., Roy Chowdhury N., Jansen P.L.M., Oude Elferink R.P.J. J. Clin. Invest. 94:2385-2391(1994) [PubMed: 7989595] [Abstract] Cited for: VARIANTS CN-I PHE-170 DEL; ARG-177; ARG-276 AND PHE-375, VARIANTS CN-II GLN-175 AND TRP-209.
[15]	"Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome." Aono S., Adachi Y., Uyama E., Yamada Y., Keino H., Nanno T., Koiwai O., Sato H. Lancet 345:958-959(1995) [PubMed: 7715297] [Abstract] Cited for: VARIANTS GILBERT SYNDROME ARG-71; GLN-229 AND GLY-367. Tissue: Liver and Peripheral blood leukocyte.
[16]	"A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II." Seppen J., Steenken E., Lindhout D., Bosma P.J., Oude Elferink R.P.J. FEBS Lett. 390:294-298(1996) [PubMed: 8706880] [Abstract] Cited for: VARIANT CN-II ARG-15, CHARACTERIZATION OF VARIANT CN-II ARG-15.
[17]	"Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease." Ciotti M., Chen F., Rubaltelli F.F., Owens I.S. Biochim. Biophys. Acta 1407:40-50(1998) [PubMed: 9639672] [Abstract] Cited for: VARIANT CN-II THR-294, CHARACTERIZATION OF VARIANT CN-II THR-294.
[18]	"Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II." Yamamoto K., Soeda Y., Kamisako T., Hosaka H., Fukano M., Sato H., Fujiyama Y., Dachi Y., Satoh Y., Bamba T. J. Hum. Genet. 43:111-114(1998) [PubMed: 9621515] [Abstract] Cited for: VARIANTS CN-II ARG-71; TRP-209; GLN-229 AND ASP-486.
[19]	"Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene." Maruo Y., Sato H., Yamano T., Doida Y., Shimada M. J. Pediatr. 132:1045-1047(1998) [PubMed: 9627603] [Abstract] Cited for: VARIANT GILBERT SYNDROME ASP-486.
[20]	"Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype." Kadakol A., Ghosh S.S., Sappal B.S., Sharma G., Chowdhury J.R., Chowdhury N.R. Hum. Mutat. 16:297-306(2000) [PubMed: 11013440] [Abstract] Cited for: VARIANTS CN-I ASP-39; PHE-170 DEL; ARG-177; ARG-276; VAL-291; GLU-308; TRP-336; ARG-357; THR-368; PHE-376; ARG-381; ARG-387; PRO-401 AND GLU-428, VARIANTS CN-II ARG-15; GLN-175; TRP-209; GLY-225 AND ARG-331, VARIANTS GILBERT SYNDROME ARG-71; GLN-229; THR-294; GLY-367 AND ASP-486.
[21]	"Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate-glucuronosyltransferase gene." Maruo Y., Nishizawa K., Sato H., Sawa H., Shimada M. Pediatrics 106:E59-E59(2000) [PubMed: 11061796] [Abstract] Cited for: VARIANTS TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA ARG-71 AND ASP-486.
[22]	"Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus." Kadakol A., Sappal B.S., Ghosh S.S., Lowenheim M., Chowdhury A., Chowdhury S., Santra A., Arias I.M., Chowdhury J.R., Chowdhury N.R. J. Med. Genet. 38:244-249(2001) [PubMed: 11370628] [Abstract] Cited for: VARIANT CN-II GLN-175.
[23]	"Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome." Labrune P., Myara A., Chalas J., Le Bihan B., Capel L., Francoual J. Hum. Mutat. 20:399-401(2002) [PubMed: 12402338] [Abstract] Cited for: VARIANT CN-II ASP-400.
[24]	"Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome." Sutomo R., Laosombat V., Sadewa A.H., Yokoyama N., Nakamura H., Matsuo M., Nishio H. Pediatr. Int. 44:427-432(2002) [PubMed: 12139570] [Abstract] Cited for: VARIANT GILBERT SYNDROME LEU-83.
[25]	"Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II." Ohnishi A., Emi Y. Biochem. Biophys. Res. Commun. 310:735-741(2003) [PubMed: 14550264] [Abstract] Cited for: CHARACTERIZATION OF VARIANT CN-II ARG-15.
[26]	"Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation." Servedio V., d'Apolito M., Maiorano N., Minuti B., Torricelli F., Ronchi F., Zancan L., Perrotta S., Vajro P., Boschetto L., Iolascon A. Hum. Mutat. 25:325-325(2005) [PubMed: 15712364] [Abstract] Cited for: VARIANTS CN-I GLN-336; ARG-357; PHE-375; SER-387 AND VAL-395, VARIANTS CN-II GLN-34; PHE-170 DEL; TRP-209; GLY-225; LEU-336; TRP-336; ARG-354; CYS-403 AND ASP-478, VARIANTS CN-I/CN-II VAL-377 AND ARG-461.
+	Additional computationally mapped references.

Web resources

GeneReviews

Wikipedia

Glucuronosyltransferase entry

Cross-references

Sequence databases
EMBLGenBankDDBJ	M57899 mRNA. Translation: AAA63195.1. M84124, M84122, M84123 Genomic DNA. Translation: AAA61247.1. Sequence problems. M84125 Genomic DNA. Translation: AAA61248.1. AF297093 Genomic DNA. Translation: AAG30424.1. AC006985 Genomic DNA. Translation: AAF03522.2. Sequence problems. D87674 Genomic DNA. Translation: BAA25600.1.
IPI	IPI00434346.
PIR	A39092.
RefSeq	NP_000454.1.
UniGene	Hs.554822
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT1. Glycosyltransferase Family 1.
Proteomic databases
PeptideAtlas	P22309.
PRIDE	P22309.
Genome annotation databases
Ensembl	ENSG00000167165. Homo sapiens. [Contig view]
GeneID	54658.
KEGG	hsa:54658.
UCSC	uc002vvb.1. human.
Organism-specific databases
GeneCards	GC02P234212.
HGNC	HGNC:12530. UGT1A1.
HPA	CAB009819.
MIM	143500. phenotype. 191740. gene. 218800. phenotype. 237900. phenotype. 606785. phenotype.
Orphanet	205. Crigler-Najjar syndrome. 357. Gilbert syndrome. 2312. Hyperbilirubinemia transient familial neonatal.
PharmGKB	PA420.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P22309.
OMA	P22309. RVIKTYK.
Enzyme and pathway databases
Reactome	REACT_13433. Biological oxidations.
Gene expression databases
ArrayExpress	P22309.
Bgee	P22309.
CleanEx	HS_UGT1A1.
GermOnline	ENSG00000167165. Homo sapiens.
Family and domain databases
InterPro	IPR002213. UDP_glucos_trans. [Graphical view]
PANTHER	PTHR11926. UDP_glucos_trans. 1 hit.
Pfam	PF00201. UDPGT. 1 hit. [Graphical view]
PROSITE	PS00375. UDPGT. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB01048. Abacavir. DB00173. Adenine. DB00586. Diclofenac. DB00783. Estradiol. DB00973. Ezetimibe. DB00762. Irinotecan. DB00688. Mycophenolate mofetil. DB01024. Mycophenolic acid. DB00818. Propofol. DB01045. Rifampin. DB00197. Troglitazone.
NextBio	57188.
SOURCE	Search...

Entry information

Entry name

UD11_HUMAN

Accession

Primary (citable) accession number: P22309

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1991
Last sequence update:	August 1, 1991
Last modified:	July 7, 2009
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)