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Reviewed, UniProtKB/Swiss-Prot Q9HAW9 (UD18_HUMAN)

Last modified July 7, 2009. Version 63. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    UDP-glucuronosyltransferase 1-8
    EC=2.4.1.17
Alternative name(s):
    UDP-glucuronosyltransferase 1A8
      Short name=UDPGT
      Short name=UGT1*8
    UGT1-08
      Short name=UGT1.8
    UGT-1H
      Short name=UGT1H
Gene names
Name: UGT1A8
Synonyms: GNT1, UGT1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length530 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.

Catalytic activity

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

Subcellular location

Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein Potential.

Tissue specificity

Colon specific. Ref.1

Sequence similarities

Belongs to the UDP-glycosyltransferase family.

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Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Membrane
Microsome
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
   Molecular functionGlycosyltransferase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processmetabolic process

Inferred from electronic annotation. Source: InterPro

   Cellular componentendoplasmic 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 functionglucuronosyltransferase activity

Inferred from electronic annotation. Source: EC

Complete GO annotation...

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Alternative products

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

Note: A number of isoforms may be produced. Isoforms have a different N-terminal domain and a common C-terminal domain of 245 residues.
Isoform 1 (identifier: Q9HAW9-1)

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.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 530505UDP-glucuronosyltransferase 1-8
PRO_0000036007

Regions

Transmembrane488 – 50417 Potential

Amino acid modifications

Glycosylation711N-linked (GlcNAc...) Potential
Glycosylation2921N-linked (GlcNAc...)
Glycosylation3441N-linked (GlcNAc...)

Natural variations

Natural variant531H → N: dbSNP rs45504099.
VAR_052463
Natural variant1321K → R Ref.1 Ref.5
VAR_015543
Natural variant1541G → A Ref.1 Ref.5
VAR_015544
Natural variant1731A → G in allele UGT1A8*2. dbSNP rs1042597. Ref.1 Ref.5 Ref.3 Ref.4
VAR_015545
Natural variant2021T → A Ref.1 Ref.5
VAR_015546
Natural variant2121M → L Ref.1 Ref.5
VAR_015547
Natural variant2771C → Y in allele UGT1A8*3; dramatic reduction in catalytic activity. dbSNP rs17863762. Ref.3
VAR_015549

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Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: AD838436940F4190

FASTA53059,742
        10         20         30         40         50         60 
MARTGWTSPI PLCVSLLLTC GFAEAGKLLV VPMDGSHWFT MQSVVEKLIL RGHEVVVVMP 

        70         80         90        100        110        120 
EVSWQLGKSL NCTVKTYSTS YTLEDLDREF MDFADAQWKA QVRSLFSLFL SSSNGFFNLF 

       130        140        150        160        170        180 
FSHCRSLFND RKLVEYLKES SFDAVFLDPF DACGLIVAKY FSLPSVVFAR GIACHYLEEG 

       190        200        210        220        230        240 
AQCPAPLSYV PRILLGFSDA MTFKERVRNH IMHLEEHLFC QYFSKNALEI ASEILQTPVT 

       250        260        270        280        290        300 
AYDLYSHTSI WLLRTDFVLD YPKPVMPNMI FIGGINCHQG KPLPMEFEAY INASGEHGIV 

       310        320        330        340        350        360 
VFSLGSMVSE IPEKKAMAIA DALGKIPQTV LWRYTGTRPS NLANNTILVK WLPQNDLLGH 

       370        380        390        400        410        420 
PMTRAFITHA GSHGVYESIC NGVPMVMMPL FGDQMDNAKR METKGAGVTL NVLEMTSEDL 

       430        440        450        460        470        480 
ENALKAVIND KSYKENIMRL SSLHKDRPVE PLDLAVFWVE FVMRHKGAPH LRPAAHDLTW 

       490        500        510        520        530 
YQYHSLDVIG FLLAVVLTVA FITFKCCAYG YRKCLGKKGR VKKAHKSKTH

« Hide

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References

« Hide 'large scale' references
[1]"Expression of the UDP-glucuronosyltransferase 1A locus in human colon. Identification and characterization of the novel extrahepatic UGT1A8."
Strassburg C.P., Manns M.P., Tukey R.H.
J. Biol. Chem. 273:8719-8726(1998) [PubMed: 9535849] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS ARG-132; ALA-154; GLY-173; ALA-202 AND LEU-212.
[2]"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].
[3]"Identification and functional characterization of UDP-glucuronosyltransferases UGT1A8*1, UGT1A8*2 and UGT1A8*3."
Huang Y.-H., Galijatovic A., Nguyen N., Geske D., Beaton D., Green J., Green M., Peters W.H., Tukey R.H.
Pharmacogenetics 12:287-297(2002) [PubMed: 12042666] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLY-173 AND TYR-277.
Tissue: Colon.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-173.
Tissue: Tongue.
[5]"Identification of genetic polymorphisms within the human extrahepatic UGT1A8 gene."
Strassburg C.P., Vogel A., Manns M.P.
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-285, VARIANTS ARG-132; ALA-154; GLY-173; ALA-202 AND LEU-212.
[6]"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-292 AND ASN-344, MASS SPECTROMETRY.
Tissue: Liver.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AF030310 mRNA. Translation: AAB84259.1.
AF297093 Genomic DNA. Translation: AAG30416.1.
AF462267 mRNA. Translation: AAL75963.1.
AF462268 mRNA. Translation: AAL75964.1.
AK313488 mRNA. Translation: BAG36270.1.
AF465198 Genomic DNA. Translation: AAL73506.1.
AF465199 Genomic DNA. Translation: AAL73507.1.
AF465200 Genomic DNA. Translation: AAL73508.1.
IPIIPI00039666.
RefSeqNP_061949.3.
UniGeneHs.554822

3D structure databases

ModBaseSearch...

Protein family/group databases

CAZyGT1. Glycosyltransferase Family 1.

Proteomic databases

PRIDEQ9HAW9.

Genome annotation databases

EnsemblENSG00000167165. Homo sapiens. [Contig view]
GeneID54576.
KEGGhsa:54576.
UCSCuc002vup.1. human.

Organism-specific databases

GeneCardsGC02P234219.
H-InvDBHIX0002936.
HGNCHGNC:12540. UGT1A8.
MIM191740. gene.
606433. gene.
Orphanet205. Crigler-Najjar syndrome.
357. Gilbert syndrome.
2312. Hyperbilirubinemia transient familial neonatal.
PharmGKBPA37183.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9HAW9.
OMAQ9HAW9. IACHYLE.

Enzyme and pathway databases

BRENDA2.4.1.17. 247.
ReactomeREACT_13433. Biological oxidations.

Gene expression databases

ArrayExpressQ9HAW9.
BgeeQ9HAW9.
GermOnlineENSG00000167165. Homo sapiens.

Family and domain databases

InterProIPR002213. UDP_glucos_trans.
[Graphical view]
PANTHERPTHR11926. UDP_glucos_trans. 1 hit.
PfamPF00201. UDPGT. 1 hit.
[Graphical view]
PROSITEPS00375. UDPGT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio57078.
SOURCESearch...

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Entry information

Entry nameUD18_HUMAN
AccessionPrimary (citable) accession number: Q9HAW9
Secondary accession number(s): B2R8S3 expand/collapse secondary AC list , O14928, Q8TEX4, Q8WTQ9, Q8WX85
Entry history
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: March 1, 2001
Last modified: July 7, 2009
This is version 63 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents