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Protein

UDP-glucuronosyltransferase 1-6

Gene

UGT1A6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).By similarity

Catalytic activityi

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

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL
  • glucuronosyltransferase activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • cellular glucuronidation Source: UniProtKB
  • cellular response to hormone stimulus Source: GO_Central
  • flavonoid biosynthetic process Source: GO_Central
  • flavonoid glucuronidation Source: GO_Central
  • negative regulation of cellular glucuronidation Source: BHF-UCL
  • negative regulation of fatty acid metabolic process Source: BHF-UCL
  • negative regulation of glucuronosyltransferase activity Source: BHF-UCL
  • small molecule metabolic process Source: Reactome
  • xenobiotic glucuronidation Source: GO_Central
  • xenobiotic metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.17. 2681.
ReactomeiREACT_6784. Glucuronidation.
SABIO-RKP19224.

Protein family/group databases

CAZyiGT1. Glycosyltransferase Family 1.

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-glucuronosyltransferase 1-6 (EC:2.4.1.17)
Short name:
UDPGT 1-6
Short name:
UGT1*6
Short name:
UGT1-06
Short name:
UGT1.6
Alternative name(s):
Phenol-metabolizing UDP-glucuronosyltransferase
UDP-glucuronosyltransferase 1-F
Short name:
UGT-1F
Short name:
UGT1F
UDP-glucuronosyltransferase 1A6
Gene namesi
Name:UGT1A6
Synonyms:GNT1, UGT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:12538. UGT1A6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei490 – 50617HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: BHF-UCL
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37181.

Chemistry

DrugBankiDB00316. Acetaminophen.
DB08826. Deferiprone.
DB00688. Mycophenolate mofetil.
DB01024. Mycophenolic acid.
DB00818. Propofol.
DB00313. Valproic Acid.

Polymorphism and mutation databases

BioMutaiUGT1A6.
DMDMi29840832.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 532506UDP-glucuronosyltransferase 1-6PRO_0000036005Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi294 – 2941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi346 – 3461N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiP19224.
PaxDbiP19224.
PRIDEiP19224.

PTM databases

PhosphoSiteiP19224.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP19224.
ExpressionAtlasiP19224. baseline.
GenevisibleiP19224. HS.

Organism-specific databases

HPAiCAB009819.

Interactioni

Subunit structurei

Isoform 1 interacts with isoform 3/i2 suggesting that oligomerization is involved in negative regulation of transferase activity by isoform 3. Isoform 1 also interacts with respective i2 isoforms of UGT1A1, UGT1A3, UGT1A4, UGT1A7, UGT1A8, UGT1A9 and UGT1A10.1 Publication

Protein-protein interaction databases

IntActiP19224. 7 interactions.
STRINGi9606.ENSP00000303174.

Structurei

3D structure databases

ProteinModelPortaliP19224.
SMRiP19224. Positions 228-443.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UDP-glycosyltransferase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1819.
GeneTreeiENSGT00760000118949.
HOGENOMiHOG000220832.
HOVERGENiHBG004033.
InParanoidiP19224.
KOiK00699.
OMAiLKESKHY.
OrthoDBiEOG78H3T2.
PhylomeDBiP19224.
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 (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P19224-1) [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.

« Hide

        10         20         30         40         50
MACLLRSFQR ISAGVFFLAL WGMVVGDKLL VVPQDGSHWL SMKDIVEVLS
60 70 80 90 100
DRGHEIVVVV PEVNLLLKES KYYTRKIYPV PYDQEELKNR YQSFGNNHFA
110 120 130 140 150
ERSFLTAPQT EYRNNMIVIG LYFINCQSLL QDRDTLNFFK ESKFDALFTD
160 170 180 190 200
PALPCGVILA EYLGLPSVYL FRGFPCSLEH TFSRSPDPVS YIPRCYTKFS
210 220 230 240 250
DHMTFSQRVA NFLVNLLEPY LFYCLFSKYE ELASAVLKRD VDIITLYQKV
260 270 280 290 300
SVWLLRYDFV LEYPRPVMPN MVFIGGINCK KRKDLSQEFE AYINASGEHG
310 320 330 340 350
IVVFSLGSMV SEIPEKKAMA IADALGKIPQ TVLWRYTGTR PSNLANNTIL
360 370 380 390 400
VKWLPQNDLL GHPMTRAFIT HAGSHGVYES ICNGVPMVMM PLFGDQMDNA
410 420 430 440 450
KRMETKGAGV TLNVLEMTSE DLENALKAVI NDKSYKENIM RLSSLHKDRP
460 470 480 490 500
VEPLDLAVFW VEFVMRHKGA PHLRPAAHDL TWYQYHSLDV IGFLLAVVLT
510 520 530
VAFITFKCCA YGYRKCLGKK GRVKKAHKSK TH
Length:532
Mass (Da):60,751
Last modified:April 11, 2003 - v2
Checksum:i4A9EA6A88CBC3136
GO
Isoform 2 (identifier: P19224-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-267: Missing.

Note: No experimental confirmation available.
Show »
Length:265
Mass (Da):29,647
Checksum:iC0DEE8F8EC498CFD
GO
Isoform 3 (identifier: P19224-3) [UniParc]FASTAAdd to basket

Also known as: i2, UGT1A6s

The sequence of this isoform differs from the canonical sequence as follows:
     434-532: SYKENIMRLS...VKKAHKSKTH → RKKQQSGRQM

Show »
Length:443
Mass (Da):50,528
Checksum:iD49A8F5D16A09EDD
GO

Sequence cautioni

The sequence BM924331 differs from that shown.Probable cloning artifact.Curated
The sequence BM924331 differs from that shown. Reason: Frameshift at positions 451 and 463. Curated
The sequence BM924331 differs from that shown. Reason: Erroneous termination at position 420. Translated as Glu.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti231 – 2311E → K in AAA61251 (PubMed:1339448).Curated
Sequence conflicti247 – 2493YQK → SE in AAA61251 (PubMed:1339448).Curated
Sequence conflicti328 – 3281I → N in AAA61251 (PubMed:1339448).Curated
Sequence conflicti419 – 4191S → F in BM924331 (PubMed:15489334).Curated
Sequence conflicti446 – 4461H → S in BM924331 (PubMed:15489334).Curated
Sequence conflicti468 – 4681K → Q in BM924331 (PubMed:15489334).Curated
Sequence conflicti476 – 4772AA → GS in BM924331 (PubMed:15489334).Curated
Sequence conflicti514 – 5141R → P in AAA61251 (PubMed:1339448).Curated

Polymorphismi

Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme, expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71S → A in allele UGT1A6*2, allele UGT1A6*3 and allele UGT1A6*4. 1 Publication
Corresponds to variant rs6759892 [ dbSNP | Ensembl ].
VAR_024685
Natural varianti70 – 701S → Y.1 Publication
Corresponds to variant rs1042708 [ dbSNP | Ensembl ].
VAR_026628
Natural varianti181 – 1811T → A in allele UGT1A6*2. 4 Publications
Corresponds to variant rs2070959 [ dbSNP | Ensembl ].
VAR_014784
Natural varianti184 – 1841R → S in allele UGT1A6*2 and allele UGT1A6*4. 4 Publications
Corresponds to variant rs1105879 [ dbSNP | Ensembl ].
VAR_015559
Natural varianti510 – 5101A → P.1 Publication
Corresponds to variant rs1042709 [ dbSNP | Ensembl ].
VAR_026629

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 267267Missing in isoform 2. 1 PublicationVSP_045779Add
BLAST
Alternative sequencei434 – 53299SYKEN…KSKTH → RKKQQSGRQM in isoform 3. 1 PublicationVSP_053962Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M84130 Genomic DNA. Translation: AAC41717.1.
M84124, M84122, M84123 Genomic DNA. Translation: AAA61247.1. Sequence problems.
J04093 mRNA. Translation: AAA61251.1.
AF297093 Genomic DNA. Translation: AAG30420.1.
DQ364250 mRNA. Translation: ABC96774.1.
AC006985 Genomic DNA. No translation available.
AC114812 Genomic DNA. No translation available.
BM924331 mRNA. No translation available.
AF014112 Genomic DNA. Translation: AAB87411.1.
CCDSiCCDS2507.1. [P19224-1]
CCDS2508.1. [P19224-2]
PIRiA31340.
RefSeqiNP_001063.2. NM_001072.3. [P19224-1]
UniGeneiHs.554822.

Genome annotation databases

EnsembliENST00000305139; ENSP00000303174; ENSG00000167165.
ENST00000373424; ENSP00000362523; ENSG00000167165. [P19224-2]
GeneIDi54578.
KEGGihsa:54578.
UCSCiuc002vuv.4. human. [P19224-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M84130 Genomic DNA. Translation: AAC41717.1.
M84124, M84122, M84123 Genomic DNA. Translation: AAA61247.1. Sequence problems.
J04093 mRNA. Translation: AAA61251.1.
AF297093 Genomic DNA. Translation: AAG30420.1.
DQ364250 mRNA. Translation: ABC96774.1.
AC006985 Genomic DNA. No translation available.
AC114812 Genomic DNA. No translation available.
BM924331 mRNA. No translation available.
AF014112 Genomic DNA. Translation: AAB87411.1.
CCDSiCCDS2507.1. [P19224-1]
CCDS2508.1. [P19224-2]
PIRiA31340.
RefSeqiNP_001063.2. NM_001072.3. [P19224-1]
UniGeneiHs.554822.

3D structure databases

ProteinModelPortaliP19224.
SMRiP19224. Positions 228-443.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP19224. 7 interactions.
STRINGi9606.ENSP00000303174.

Chemistry

BindingDBiP19224.
ChEMBLiCHEMBL1743316.
DrugBankiDB00316. Acetaminophen.
DB08826. Deferiprone.
DB00688. Mycophenolate mofetil.
DB01024. Mycophenolic acid.
DB00818. Propofol.
DB00313. Valproic Acid.

Protein family/group databases

CAZyiGT1. Glycosyltransferase Family 1.

PTM databases

PhosphoSiteiP19224.

Polymorphism and mutation databases

BioMutaiUGT1A6.
DMDMi29840832.

Proteomic databases

MaxQBiP19224.
PaxDbiP19224.
PRIDEiP19224.

Protocols and materials databases

DNASUi54578.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305139; ENSP00000303174; ENSG00000167165.
ENST00000373424; ENSP00000362523; ENSG00000167165. [P19224-2]
GeneIDi54578.
KEGGihsa:54578.
UCSCiuc002vuv.4. human. [P19224-1]

Organism-specific databases

CTDi54578.
GeneCardsiGC02P234600.
HGNCiHGNC:12538. UGT1A6.
HPAiCAB009819.
MIMi191740. gene.
606431. gene.
neXtProtiNX_P19224.
PharmGKBiPA37181.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1819.
GeneTreeiENSGT00760000118949.
HOGENOMiHOG000220832.
HOVERGENiHBG004033.
InParanoidiP19224.
KOiK00699.
OMAiLKESKHY.
OrthoDBiEOG78H3T2.
PhylomeDBiP19224.
TreeFamiTF315472.

Enzyme and pathway databases

BRENDAi2.4.1.17. 2681.
ReactomeiREACT_6784. Glucuronidation.
SABIO-RKP19224.

Miscellaneous databases

GeneWikiiUGT1A6.
GenomeRNAii54578.
NextBioi35481513.
PROiP19224.
SOURCEiSearch...

Gene expression databases

BgeeiP19224.
ExpressionAtlasiP19224. baseline.
GenevisibleiP19224. HS.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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, VARIANTS TYR-70 AND PRO-510.
  2. "Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells."
    Harding D., Fournel-Gigleux S., Jackson M.R., Burchell B.
    Proc. Natl. Acad. Sci. U.S.A. 85:8381-8385(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  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 3), VARIANTS ALA-181 AND SER-184.
  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. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-488 (ISOFORM 2).
  7. "Aryl hydrocarbon receptor-inducible or constitutive expression of human UDP glucuronosyltransferase UGT1A6."
    Muenzel P.A., Lehmkoester T., Brueck M., Ritter J.K., Bock K.W.
    Arch. Biochem. Biophys. 350:72-78(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-33.
  8. "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, TISSUE SPECIFICITY.
  9. "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.
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  11. "Genetic polymorphism in the human UGT1A6 (planar phenol) UDP-glucuronosyltransferase: pharmacological implications."
    Ciotti M., Marrone A., Potter C., Owens I.S.
    Pharmacogenetics 7:485-495(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-181 AND SER-184.
  12. "Human UGT1A6 pharmacogenetics: identification of a novel SNP, characterization of allele frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells."
    Nagar S., Zalatoris J.J., Blanchard R.L.
    Pharmacogenetics 14:487-499(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-7; ALA-181 AND SER-184.
  13. "Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population."
    Menard V., Girard H., Harvey M., Perusse L., Guillemette C.
    Hum. Mutat. 30:677-687(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-181 AND SER-184.

Entry informationi

Entry nameiUD16_HUMAN
AccessioniPrimary (citable) accession number: P19224
Secondary accession number(s): A6NKK6, B8K289, Q96TE7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: April 11, 2003
Last modified: July 22, 2015
This is version 150 of the entry and version 2 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.