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P22309

- UD11_HUMAN

UniProt

P22309 - UD11_HUMAN

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Protein
UDP-glucuronosyltransferase 1-1
Gene
UGT1A1, GNT1, UGT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1.5 Publications

Catalytic activityi

UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.2 Publications

Kineticsi

  1. KM=0.26 µM for bilirubin1 Publication

Vmax=1080 pmol/min/mg enzyme with bilirubin as substrate

GO - Molecular functioni

  1. enzyme binding Source: BHF-UCL
  2. enzyme inhibitor activity Source: BHF-UCL
  3. glucuronosyltransferase activity Source: BHF-UCL
  4. protein heterodimerization activity Source: UniProt
  5. protein homodimerization activity Source: UniProt
  6. retinoic acid binding Source: BHF-UCL
  7. steroid binding Source: BHF-UCL

GO - Biological processi

  1. acute-phase response Source: Ensembl
  2. bilirubin conjugation Source: ProtInc
  3. biphenyl catabolic process Source: Ensembl
  4. cellular glucuronidation Source: UniProt
  5. cellular response to ethanol Source: Ensembl
  6. cellular response to glucocorticoid stimulus Source: Ensembl
  7. digestion Source: ProtInc
  8. drug metabolic process Source: BHF-UCL
  9. estrogen metabolic process Source: ProtInc
  10. flavone metabolic process Source: BHF-UCL
  11. flavonoid glucuronidation Source: BHF-UCL
  12. heme catabolic process Source: Reactome
  13. heterocycle metabolic process Source: BHF-UCL
  14. liver development Source: Ensembl
  15. negative regulation of catalytic activity Source: GOC
  16. negative regulation of cellular glucuronidation Source: UniProtKB
  17. negative regulation of steroid metabolic process Source: BHF-UCL
  18. organ regeneration Source: Ensembl
  19. porphyrin-containing compound metabolic process Source: Reactome
  20. response to drug Source: Ensembl
  21. response to lipopolysaccharide Source: Ensembl
  22. response to nutrient Source: Ensembl
  23. response to starvation Source: Ensembl
  24. retinoic acid metabolic process Source: BHF-UCL
  25. small molecule metabolic process Source: Reactome
  26. steroid metabolic process Source: BHF-UCL
  27. xenobiotic glucuronidation Source: BHF-UCL
  28. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiREACT_22297. Heme degradation.
REACT_6784. Glucuronidation.
SABIO-RKP22309.

Protein family/group databases

CAZyiGT1. Glycosyltransferase Family 1.

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-glucuronosyltransferase 1-1 (EC:2.4.1.17)
Short name:
UDPGT 1-1
Short name:
UGT1*1
Short name:
UGT1-01
Short name:
UGT1.1
Alternative name(s):
Bilirubin-specific UDPGT isozyme 1
Short name:
hUG-BR1
UDP-glucuronosyltransferase 1-A
Short name:
UGT-1A
Short name:
UGT1A
UDP-glucuronosyltransferase 1A1
Gene namesi
Name:UGT1A1
Synonyms:GNT1, UGT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:12530. UGT1A1.

Subcellular locationi

Isoform 1 : Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein Reviewed prediction 1 Publication
Isoform 2 : Endoplasmic reticulum 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei491 – 50717Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. cytochrome complex Source: Ensembl
  2. endoplasmic reticulum Source: UniProt
  3. endoplasmic reticulum membrane Source: Reactome
  4. integral component of plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Gilbert syndrome (GILBS) [MIM:143500]: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711G → R in CN2, GILBS and HBLRTFN; has significant residual bilirubin glucuronidation activity of about 25% to 50% of that of the wild-type protein; displays no change in biluribin affinity. 7 Publications
Corresponds to variant rs4148323 [ dbSNP | Ensembl ].
VAR_009504
Natural varianti83 – 831F → L in GILBS; displays less than 10% of wild-type bilirubin glucuronidation activity. 2 Publications
Corresponds to variant rs56059937 [ dbSNP | Ensembl ].
VAR_026136
Natural varianti229 – 2291P → Q in CN2 and GILBS; displays 2-fold decrease in biluribin affinity and 61% of wild-type bilirubin glucuronidation activity. 4 Publications
Corresponds to variant rs35350960 [ dbSNP | Ensembl ].
VAR_009505
Natural varianti294 – 2941I → T in GILBS and CN2; 40-55% normal activity; normal Km for bilirubin; when homozygous far less repressive and generates the mild Gilbert phenotype. 2 Publications
VAR_026139
Natural varianti367 – 3671R → G in GILBS. 2 Publications
Corresponds to variant rs55750087 [ dbSNP | Ensembl ].
VAR_012283
Natural varianti486 – 4861Y → D in CN2, GILBS and HBLRTFN; displays less than 10% of wild-type bilirubin glucuronidation activity. 7 Publications
VAR_007709
Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900]: A condition characterized by excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common problem in nursing infants.
Note: The disease may be caused by mutations affecting the gene represented in this entry. The defect 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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711G → R in CN2, GILBS and HBLRTFN; has significant residual bilirubin glucuronidation activity of about 25% to 50% of that of the wild-type protein; displays no change in biluribin affinity. 7 Publications
Corresponds to variant rs4148323 [ dbSNP | Ensembl ].
VAR_009504
Natural varianti486 – 4861Y → D in CN2, GILBS and HBLRTFN; displays less than 10% of wild-type bilirubin glucuronidation activity. 7 Publications
VAR_007709
Crigler-Najjar syndrome 1 (CN1) [MIM:218800]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391H → D in CN1. 1 Publication
VAR_026135
Natural varianti170 – 1701Missing in CN1 and CN2; has nearly normal activity at pH 7.6 and is inactive at pH 6.4. 4 Publications
VAR_007695
Natural varianti177 – 1771C → R in CN1. 2 Publications
VAR_007697
Natural varianti276 – 2761G → R in CN1. 2 Publications
VAR_007699
Natural varianti291 – 2911E → V in CN1. 1 Publication
VAR_026138
Natural varianti292 – 2921A → V in CN1. 1 Publication
VAR_007700
Natural varianti308 – 3081G → E in CN1; no enzyme activity. 3 Publications
VAR_007701
Natural varianti336 – 3361R → L in CN1 and CN2. 1 Publication
VAR_026140
Natural varianti336 – 3361R → Q in CN1. 1 Publication
VAR_026141
Natural varianti357 – 3571Q → R in CN1. 3 Publications
VAR_007703
Natural varianti368 – 3681A → T in CN1. 2 Publications
VAR_007704
Natural varianti375 – 3751S → F in CN1; no enzyme activity. 5 Publications
VAR_007705
Natural varianti376 – 3761H → R in CN1 and CN2.
VAR_026144
Natural varianti377 – 3771G → V in CN1 and CN2. 1 Publication
VAR_026145
Natural varianti381 – 3811S → R in CN1. 2 Publications
VAR_007706
Natural varianti387 – 3871P → S in CN1. 2 Publications
VAR_026146
Natural varianti395 – 3951G → V in CN1; has no residual bilirubin glucuronidation activity. 3 Publications
VAR_026147
Natural varianti401 – 4011A → P in CN1. 2 Publications
VAR_007707
Natural varianti402 – 4021K → T in CN1; has no residual bilirubin glucuronidation activity; N-glycosylation does take place at this new additional site. 1 Publication
VAR_064960
Natural varianti428 – 4281K → E in CN1. 2 Publications
VAR_007708
Natural varianti461 – 4611W → R in CN1 and CN2. 2 Publications
VAR_026149
Crigler-Najjar syndrome 2 (CN2) [MIM:606785]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.14 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → R in CN2; mutant protein rapidly degraded by the proteasome owing to its mislocalization in the cell. 4 Publications
VAR_019410
Natural varianti34 – 341P → Q in CN2. 1 Publication
VAR_026134
Natural varianti71 – 711G → R in CN2, GILBS and HBLRTFN; has significant residual bilirubin glucuronidation activity of about 25% to 50% of that of the wild-type protein; displays no change in biluribin affinity. 7 Publications
Corresponds to variant rs4148323 [ dbSNP | Ensembl ].
VAR_009504
Natural varianti170 – 1701Missing in CN1 and CN2; has nearly normal activity at pH 7.6 and is inactive at pH 6.4. 4 Publications
VAR_007695
Natural varianti171 – 1711Missing in CN2. 1 Publication
VAR_064955
Natural varianti175 – 1751L → Q in CN2; has low residual bilirubin glucuronidation activity of about 4.6% of that of the wild-type protein. 4 Publications
VAR_019411
Natural varianti191 – 1911S → F in CN2; has low residual bilirubin glucuronidation activity of about 5.3% of that of the wild-type protein. 1 Publication
VAR_064956
Natural varianti209 – 2091R → W in CN2; has low residual bilirubin glucuronidation activity of about 2.9% of that of the wild-type protein. 5 Publications
VAR_007698
Natural varianti225 – 2251V → G in CN2. 2 Publications
Corresponds to variant rs35003977 [ dbSNP | Ensembl ].
VAR_026137
Natural varianti229 – 2291P → Q in CN2 and GILBS; displays 2-fold decrease in biluribin affinity and 61% of wild-type bilirubin glucuronidation activity. 4 Publications
Corresponds to variant rs35350960 [ dbSNP | Ensembl ].
VAR_009505
Natural varianti279 – 2791N → Y in CN2. 1 Publication
VAR_064957
Natural varianti294 – 2941I → T in GILBS and CN2; 40-55% normal activity; normal Km for bilirubin; when homozygous far less repressive and generates the mild Gilbert phenotype. 2 Publications
VAR_026139
Natural varianti331 – 3311Q → R in CN2; has no residual bilirubin glucuronidation activity. 3 Publications
VAR_007702
Natural varianti336 – 3361R → L in CN1 and CN2. 1 Publication
VAR_026140
Natural varianti336 – 3361R → W in CN2; has very low residual bilirubin glucuronidation activity of about 0.4% of that of the wild-type protein. 3 Publications
VAR_026142
Natural varianti354 – 3541W → R in CN2. 2 Publications
VAR_026143
Natural varianti370 – 3701I → V in CN2. 1 Publication
VAR_064958
Natural varianti376 – 3761H → R in CN1 and CN2.
VAR_026144
Natural varianti377 – 3771G → V in CN1 and CN2. 1 Publication
VAR_026145
Natural varianti387 – 3871P → H in CN2; has no residual bilirubin glucuronidation activity. 1 Publication
VAR_064959
Natural varianti400 – 4001N → D in CN2. 1 Publication
Corresponds to variant rs28934877 [ dbSNP | Ensembl ].
VAR_019412
Natural varianti403 – 4031R → C in CN2. 1 Publication
VAR_026148
Natural varianti443 – 4431L → P in CN2; has no residual bilirubin glucuronidation activity. 2 Publications
VAR_064961
Natural varianti461 – 4611W → R in CN1 and CN2. 2 Publications
VAR_026149
Natural varianti478 – 4781A → D in CN2. 1 Publication
VAR_026150
Natural varianti486 – 4861Y → D in CN2, GILBS and HBLRTFN; displays less than 10% of wild-type bilirubin glucuronidation activity. 7 Publications
VAR_007709

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi143500. phenotype.
218800. phenotype.
237900. phenotype.
601816. phenotype.
606785. phenotype.
Orphaneti79234. Crigler-Najjar syndrome type 1.
79235. Crigler-Najjar syndrome type 2.
357. Gilbert syndrome.
240885. Irinotecan toxicity.
240905. Raltegravir toxicity.
240973. Susceptibility to adverse reaction due to irinotecan treatment.
241017. Susceptibility to icterus due to raltegravir treatment.
2312. Transient familial neonatal hyperbilirubinemia.
PharmGKBiPA420.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525 Reviewed prediction
Add
BLAST
Chaini26 – 533508UDP-glucuronosyltransferase 1-1
PRO_0000036000Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi102 – 1021N-linked (GlcNAc...)1 Publication
Glycosylationi295 – 2951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi347 – 3471N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP22309.
PeptideAtlasiP22309.
PRIDEiP22309.

PTM databases

PhosphoSiteiP22309.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are expressed in liver, colon and small intestine. Isoform 2 but not isoform 1 is expressed in kidney. Isoform 1 and isoform 2 are not expressed in esophagus. Not expressed in skin.3 Publications

Gene expression databases

BgeeiP22309.
CleanExiHS_UGT1A1.
GenevestigatoriP22309.

Interactioni

Subunit structurei

Isoform 1 interacts with isoform 2/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 2. Isoform 1 also interacts with respective i2 isoforms of UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9 and UGT1A10. Part of 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.2 Publications

Protein-protein interaction databases

BioGridi120087. 4 interactions.
IntActiP22309. 9 interactions.
STRINGi9606.ENSP00000304845.

Structurei

3D structure databases

ProteinModelPortaliP22309.
SMRiP22309. Positions 116-444.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1819.
HOGENOMiHOG000220832.
HOVERGENiHBG004033.
KOiK00699.
OMAiESHFRRM.
OrthoDBiEOG7GBFWS.
PhylomeDBiP22309.
TreeFamiTF315472.

Family and domain databases

InterProiIPR002213. UDP_glucos_trans.
[Graphical view]
PANTHERiPTHR11926. PTHR11926. 1 hit.
PfamiPF00201. UDPGT. 1 hit.
[Graphical view]
PROSITEiPS00375. UDPGT. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P22309-1) [UniParc]FASTAAdd to Basket

Also known as: i1

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.

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MAVESQGGRP LVLGLLLCVL GPVVSHAGKI LLIPVDGSHW LSMLGAIQQL    50
QQRGHEIVVL APDASLYIRD GAFYTLKTYP VPFQREDVKE SFVSLGHNVF 100
ENDSFLQRVI KTYKKIKKDS AMLLSGCSHL LHNKELMASL AESSFDVMLT 150
DPFLPCSPIV AQYLSLPTVF FLHALPCSLE FEATQCPNPF SYVPRPLSSH 200
SDHMTFLQRV KNMLIAFSQN FLCDVVYSPY ATLASEFLQR EVTVQDLLSS 250
ASVWLFRSDF VKDYPRPIMP NMVFVGGINC LHQNPLSQEF EAYINASGEH 300
GIVVFSLGSM VSEIPEKKAM AIADALGKIP QTVLWRYTGT RPSNLANNTI 350
LVKWLPQNDL LGHPMTRAFI THAGSHGVYE SICNGVPMVM MPLFGDQMDN 400
AKRMETKGAG VTLNVLEMTS EDLENALKAV INDKSYKENI MRLSSLHKDR 450
PVEPLDLAVF WVEFVMRHKG APHLRPAAHD LTWYQYHSLD VIGFLLAVVL 500
TVAFITFKCC AYGYRKCLGK KGRVKKAHKS KTH 533
Length:533
Mass (Da):59,591
Last modified:August 1, 1991 - v1
Checksum:i19C90231AD0EB547
GO
Isoform 2 (identifier: P22309-2) [UniParc]FASTAAdd to Basket

Also known as: i2, UGT1A1s

The sequence of this isoform differs from the canonical sequence as follows:
     435-533: SYKENIMRLS...VKKAHKSKTH → RKKQQSGRQM

Show »
Length:444
Mass (Da):49,368
Checksum:i71E6711DDEFED403
GO

Sequence cautioni

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.

Polymorphismi

Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1) [MIMi:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug metabolism.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → R in CN2; mutant protein rapidly degraded by the proteasome owing to its mislocalization in the cell. 4 Publications
VAR_019410
Natural varianti34 – 341P → Q in CN2. 1 Publication
VAR_026134
Natural varianti39 – 391H → D in CN1. 1 Publication
VAR_026135
Natural varianti71 – 711G → R in CN2, GILBS and HBLRTFN; has significant residual bilirubin glucuronidation activity of about 25% to 50% of that of the wild-type protein; displays no change in biluribin affinity. 7 Publications
Corresponds to variant rs4148323 [ dbSNP | Ensembl ].
VAR_009504
Natural varianti83 – 831F → L in GILBS; displays less than 10% of wild-type bilirubin glucuronidation activity. 2 Publications
Corresponds to variant rs56059937 [ dbSNP | Ensembl ].
VAR_026136
Natural varianti170 – 1701Missing in CN1 and CN2; has nearly normal activity at pH 7.6 and is inactive at pH 6.4. 4 Publications
VAR_007695
Natural varianti171 – 1711Missing in CN2. 1 Publication
VAR_064955
Natural varianti175 – 1751L → Q in CN2; has low residual bilirubin glucuronidation activity of about 4.6% of that of the wild-type protein. 4 Publications
VAR_019411
Natural varianti177 – 1771C → R in CN1. 2 Publications
VAR_007697
Natural varianti191 – 1911S → F in CN2; has low residual bilirubin glucuronidation activity of about 5.3% of that of the wild-type protein. 1 Publication
VAR_064956
Natural varianti209 – 2091R → W in CN2; has low residual bilirubin glucuronidation activity of about 2.9% of that of the wild-type protein. 5 Publications
VAR_007698
Natural varianti225 – 2251V → G in CN2. 2 Publications
Corresponds to variant rs35003977 [ dbSNP | Ensembl ].
VAR_026137
Natural varianti229 – 2291P → Q in CN2 and GILBS; displays 2-fold decrease in biluribin affinity and 61% of wild-type bilirubin glucuronidation activity. 4 Publications
Corresponds to variant rs35350960 [ dbSNP | Ensembl ].
VAR_009505
Natural varianti276 – 2761G → R in CN1. 2 Publications
VAR_007699
Natural varianti279 – 2791N → Y in CN2. 1 Publication
VAR_064957
Natural varianti291 – 2911E → V in CN1. 1 Publication
VAR_026138
Natural varianti292 – 2921A → V in CN1. 1 Publication
VAR_007700
Natural varianti294 – 2941I → T in GILBS and CN2; 40-55% normal activity; normal Km for bilirubin; when homozygous far less repressive and generates the mild Gilbert phenotype. 2 Publications
VAR_026139
Natural varianti308 – 3081G → E in CN1; no enzyme activity. 3 Publications
VAR_007701
Natural varianti331 – 3311Q → R in CN2; has no residual bilirubin glucuronidation activity. 3 Publications
VAR_007702
Natural varianti336 – 3361R → L in CN1 and CN2. 1 Publication
VAR_026140
Natural varianti336 – 3361R → Q in CN1. 1 Publication
VAR_026141
Natural varianti336 – 3361R → W in CN2; has very low residual bilirubin glucuronidation activity of about 0.4% of that of the wild-type protein. 3 Publications
VAR_026142
Natural varianti354 – 3541W → R in CN2. 2 Publications
VAR_026143
Natural varianti357 – 3571Q → R in CN1. 3 Publications
VAR_007703
Natural varianti367 – 3671R → G in GILBS. 2 Publications
Corresponds to variant rs55750087 [ dbSNP | Ensembl ].
VAR_012283
Natural varianti368 – 3681A → T in CN1. 2 Publications
VAR_007704
Natural varianti370 – 3701I → V in CN2. 1 Publication
VAR_064958
Natural varianti375 – 3751S → F in CN1; no enzyme activity. 5 Publications
VAR_007705
Natural varianti376 – 3761H → R in CN1 and CN2.
VAR_026144
Natural varianti377 – 3771G → V in CN1 and CN2. 1 Publication
VAR_026145
Natural varianti381 – 3811S → R in CN1. 2 Publications
VAR_007706
Natural varianti387 – 3871P → H in CN2; has no residual bilirubin glucuronidation activity. 1 Publication
VAR_064959
Natural varianti387 – 3871P → S in CN1. 2 Publications
VAR_026146
Natural varianti395 – 3951G → V in CN1; has no residual bilirubin glucuronidation activity. 3 Publications
VAR_026147
Natural varianti400 – 4001N → D in CN2. 1 Publication
Corresponds to variant rs28934877 [ dbSNP | Ensembl ].
VAR_019412
Natural varianti401 – 4011A → P in CN1. 2 Publications
VAR_007707
Natural varianti402 – 4021K → T in CN1; has no residual bilirubin glucuronidation activity; N-glycosylation does take place at this new additional site. 1 Publication
VAR_064960
Natural varianti403 – 4031R → C in CN2. 1 Publication
VAR_026148
Natural varianti428 – 4281K → E in CN1. 2 Publications
VAR_007708
Natural varianti443 – 4431L → P in CN2; has no residual bilirubin glucuronidation activity. 2 Publications
VAR_064961
Natural varianti461 – 4611W → R in CN1 and CN2. 2 Publications
VAR_026149
Natural varianti478 – 4781A → D in CN2. 1 Publication
VAR_026150
Natural varianti486 – 4861Y → D in CN2, GILBS and HBLRTFN; displays less than 10% of wild-type bilirubin glucuronidation activity. 7 Publications
VAR_007709
Natural varianti511 – 5111A → P.
Corresponds to variant rs1042709 [ dbSNP | Ensembl ].
VAR_025355

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei435 – 53399SYKEN…KSKTH → RKKQQSGRQM in isoform 2.
VSP_053958Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M57899 mRNA. Translation: AAA63195.1.
M84124, M84122, M84123 Genomic DNA. Translation: AAA61247.1. Sequence problems.
M84125 Genomic DNA. Translation: AAA61248.1.
DQ364247 mRNA. Translation: ABC96771.1.
AF297093 Genomic DNA. Translation: AAG30424.1.
AC006985 Genomic DNA. Translation: AAF03522.2. Sequence problems.
D87674 Genomic DNA. Translation: BAA25600.1.
CCDSiCCDS2510.1. [P22309-1]
PIRiA39092.
RefSeqiNP_000454.1. NM_000463.2. [P22309-1]
UniGeneiHs.554822.

Genome annotation databases

EnsembliENST00000608383; ENSP00000476741; ENSG00000241635. [P22309-1]
GeneIDi54658.
KEGGihsa:54658.
UCSCiuc002vvb.3. human. [P22309-1]

Polymorphism databases

DMDMi136729.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Wikipedia

Glucuronosyltransferase entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M57899 mRNA. Translation: AAA63195.1 .
M84124 , M84122 , M84123 Genomic DNA. Translation: AAA61247.1 . Sequence problems.
M84125 Genomic DNA. Translation: AAA61248.1 .
DQ364247 mRNA. Translation: ABC96771.1 .
AF297093 Genomic DNA. Translation: AAG30424.1 .
AC006985 Genomic DNA. Translation: AAF03522.2 . Sequence problems.
D87674 Genomic DNA. Translation: BAA25600.1 .
CCDSi CCDS2510.1. [P22309-1 ]
PIRi A39092.
RefSeqi NP_000454.1. NM_000463.2. [P22309-1 ]
UniGenei Hs.554822.

3D structure databases

ProteinModelPortali P22309.
SMRi P22309. Positions 116-444.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120087. 4 interactions.
IntActi P22309. 9 interactions.
STRINGi 9606.ENSP00000304845.

Chemistry

BindingDBi P22309.
ChEMBLi CHEMBL1287617.
DrugBanki DB01048. Abacavir.
DB00173. Adenine.
DB00586. Diclofenac.
DB00783. Estradiol.
DB00973. Ezetimibe.
DB00762. Irinotecan.
DB00688. Mycophenolate mofetil.
DB01024. Mycophenolic acid.
DB00818. Propofol.
DB01045. Rifampin.
DB00197. Troglitazone.

Protein family/group databases

CAZyi GT1. Glycosyltransferase Family 1.

PTM databases

PhosphoSitei P22309.

Polymorphism databases

DMDMi 136729.

Proteomic databases

PaxDbi P22309.
PeptideAtlasi P22309.
PRIDEi P22309.

Protocols and materials databases

DNASUi 54658.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000608383 ; ENSP00000476741 ; ENSG00000241635 . [P22309-1 ]
GeneIDi 54658.
KEGGi hsa:54658.
UCSCi uc002vvb.3. human. [P22309-1 ]

Organism-specific databases

CTDi 54658.
GeneCardsi GC02P234668.
HGNCi HGNC:12530. UGT1A1.
MIMi 143500. phenotype.
191740. gene.
218800. phenotype.
237900. phenotype.
601816. phenotype.
606785. phenotype.
neXtProti NX_P22309.
Orphaneti 79234. Crigler-Najjar syndrome type 1.
79235. Crigler-Najjar syndrome type 2.
357. Gilbert syndrome.
240885. Irinotecan toxicity.
240905. Raltegravir toxicity.
240973. Susceptibility to adverse reaction due to irinotecan treatment.
241017. Susceptibility to icterus due to raltegravir treatment.
2312. Transient familial neonatal hyperbilirubinemia.
PharmGKBi PA420.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1819.
HOGENOMi HOG000220832.
HOVERGENi HBG004033.
KOi K00699.
OMAi ESHFRRM.
OrthoDBi EOG7GBFWS.
PhylomeDBi P22309.
TreeFami TF315472.

Enzyme and pathway databases

Reactomei REACT_22297. Heme degradation.
REACT_6784. Glucuronidation.
SABIO-RK P22309.

Miscellaneous databases

GenomeRNAii 54658.
NextBioi 27033972.
PROi P22309.
SOURCEi Search...

Gene expression databases

Bgeei P22309.
CleanExi HS_UGT1A1.
Genevestigatori P22309.

Family and domain databases

InterProi IPR002213. UDP_glucos_trans.
[Graphical view ]
PANTHERi PTHR11926. PTHR11926. 1 hit.
Pfami PF00201. UDPGT. 1 hit.
[Graphical view ]
PROSITEi PS00375. UDPGT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. Guillemette C., Levesque E., Girard H., Bernard O.
    Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  5. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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.
  7. "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] [Europe PMC] [Abstract]
    Cited for: COMPONENT OF A CHAPERONE COMPLEX.
  8. "Regulation of the UGT1A1 bilirubin-conjugating pathway: role of a new splicing event at the UGT1A locus."
    Levesque E., Girard H., Journault K., Lepine J., Guillemette C.
    Hepatology 45:128-138(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, FUNCTION (ISOFORM 2), SUBCELLULAR LOCATION, SUBUNIT, TISSUE SPECIFICITY.
  9. "Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates."
    Udomuksorn W., Elliot D.J., Lewis B.C., Mackenzie P.I., Yoovathaworn K., Miners J.O.
    Pharmacogenet. Genomics 17:1017-1029(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, KINETIC PARAMETERS, SUBSTRATE SPECIFICITY, CHARACTERIZATION OF VARIANTS CN2 ARG-71; LEU-83; GLN-229 AND ASP-486.
  10. "Genetic diversity at the UGT1 locus is amplified by a novel 3' alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity."
    Girard H., Levesque E., Bellemare J., Journault K., Caillier B., Guillemette C.
    Pharmacogenet. Genomics 17:1077-1089(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, CATALYTIC ACTIVITY, FUNCTION (ISOFORM 2), TISSUE SPECIFICITY.
  11. "Structure and concentration changes affect characterization of UGT isoform-specific metabolism of isoflavones."
    Tang L., Singh R., Liu Z., Hu M.
    Mol. Pharm. 6:1466-1482(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants."
    Sneitz N., Bakker C.T., de Knegt R.J., Halley D.J., Finel M., Bosma P.J.
    Hum. Mutat. 31:52-59(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBSTRATE SPECIFICITY, VARIANT CN1 THR-402, VARIANTS CN2 ARG-15; ARG-71; PHE-191; TRP-209; TRP-336; HIS-387; PRO-443 AND ASP-486, CHARACTERIZATION OF VARIANT CN1 THR-402, CHARACTERIZATION OF VARIANTS CN2 ARG-71; GLN-175; PHE-191; TRP-209; ARG-331; TRP-336; HIS-387; VAL-395 AND PRO-443.
  13. Cited for: INVOLVEMENT IN BILIQTL1.
  14. "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] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-102.
    Tissue: Liver.
  15. "Alternatively spliced products of the UGT1A gene interact with the enzymatically active proteins to inhibit glucuronosyltransferase activity in vitro."
    Bellemare J., Rouleau M., Girard H., Harvey M., Guillemette C.
    Drug Metab. Dispos. 38:1785-1789(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  16. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CN1 PHE-375.
  17. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CN2 ARG-71 AND ASP-486.
  18. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CN2 ARG-331.
  19. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CN1 PHE-170 DEL.
  20. Cited for: VARIANTS CN1 VAL-292; GLU-308; ARG-357; THR-368; ARG-381; PRO-401 AND GLU-428.
  21. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CN1 GLU-308 AND PHE-375, CHARACTERIZATION OF VARIANTS CN1 GLU-308 AND PHE-375.
  22. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CN1 PHE-170 DEL; ARG-177; ARG-276 AND PHE-375, VARIANTS CN2 GLN-175 AND TRP-209.
  23. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS GILBS ARG-71; GLN-229 AND GLY-367.
    Tissue: Liver and Peripheral blood leukocyte.
  24. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CN2 ARG-15, CHARACTERIZATION OF VARIANT CN2 ARG-15.
  25. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CN2 THR-294, CHARACTERIZATION OF VARIANT CN2 THR-294.
  26. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CN2 ARG-71; TRP-209; GLN-229 AND ASP-486.
  27. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT GILBS ASP-486.
  28. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CN1 ASP-39; PHE-170 DEL; ARG-177; ARG-276; VAL-291; GLU-308; TRP-336; ARG-357; THR-368; PHE-375; ARG-381; SER-387; PRO-401 AND GLU-428, VARIANTS CN2 ARG-15; GLN-175; TRP-209; GLY-225 AND ARG-331, VARIANTS GILBS ARG-71; GLN-229; THR-294; GLY-367 AND ASP-486.
  29. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS HBLRTFN ARG-71 AND ASP-486.
  30. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CN2 GLN-175.
  31. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT CN2 ASP-400.
  32. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT GILBS LEU-83.
  33. "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] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT CN2 ARG-15.
  34. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS CN1 GLN-336; ARG-357; PHE-375; SER-387 AND VAL-395, VARIANTS CN2 GLN-34; PHE-170 DEL; TRP-209; GLY-225; LEU-336; TRP-336; ARG-354; CYS-403 AND ASP-478, VARIANTS CN1/CN2 VAL-377 AND ARG-461.
  35. "Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia."
    D'Apolito M., Marrone A., Servedio V., Vajro P., De Falco L., Iolascon A.
    Haematologica 92:133-134(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CN1 PHE-171 DEL, VARIANTS CN2 TYR-279; ARG-354; VAL-370; VAL-395; PRO-443 AND ARG-461.

Entry informationi

Entry nameiUD11_HUMAN
AccessioniPrimary (citable) accession number: P22309
Secondary accession number(s): A6NJC3, B8K286
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: August 1, 1991
Last modified: September 3, 2014
This is version 162 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The gene is part of the UGT1A complex locus which displays alternative use of promoters, first exons and terminal exons. The locus is defined by 13 first exons, which are alternatively spliced to 3 other common exons and 2 alternative terminal exons 5. From the 27 possible mRNA isoforms, 9 produce functionally active polypeptides (UGT1A1, 1A3, 1A4, 1A5, 1A6, 1A7, 1A8, 1A9 and 1A10) called isoforms 1 (i1). Use of an alternative exon 5 (5b) as terminal exon is leading to 9 additional alternatively spliced products termed isoforms i2 and which lack transferase activity.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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