Q9HAW7 (UD17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UDP-glucuronosyltransferase 1-7
Short name=UDPGT 1-7
Short name=UGT1*7
Short name=UGT1-07
Short name=UGT1.7
EC=2.4.1.17

Alternative name(s):
UDP-glucuronosyltransferase 1-G
Short name=UGT-1G
Short name=UGT1G
UDP-glucuronosyltransferase 1A7

Gene names

Name:	UGT1A7
Synonyms:	GNT1, UGT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	530 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.
Catalytic activity	UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.
Subcellular location	Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein Potential.
Tissue specificity	Liver and gastric tissue. Ref.1
Polymorphism	There are four common allelic UGT1A7 variants which exhibit significant differences in catalytic activity towards 3-, 7-, and 9-hydroxy-benzo(a)pyrene. UGT1A7*3 exhibits a 5.8-fold lower relative Vmax compared to UGT1A7*1, whereas UGT1A7*2 and UGT1A7*4 have a 2.6- and 2.8-fold lower relative Vmax than UGT1A7*1, respectively, suggesting that these mutations confer slow glucuronidation phenotype.
Sequence similarities	Belongs to the UDP-glycosyltransferase family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	coumarin metabolic process Inferred by curator PubMed 19996319. Source: BHF-UCL drug metabolic process Inferred from direct assay PubMed 20610558. Source: BHF-UCL excretion Inferred by curator PubMed 20056724. Source: BHF-UCL flavone metabolic process Inferred by curator PubMed 18052087. Source: BHF-UCL flavonoid glucuronidation Inferred from direct assay PubMed 20056724. Source: BHF-UCL negative regulation of fatty acid metabolic process Inferred from direct assay PubMed 20610558. Source: BHF-UCL retinoic acid metabolic process Inferred by curator PubMed 20308471. Source: BHF-UCL xenobiotic glucuronidation Inferred from direct assay PubMed 20056724. Source: BHF-UCL
Cellular_component	endoplasmic reticulum membrane Non-traceable author statement PubMed 20610558. Source: BHF-UCL integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	drug binding Inferred from direct assay PubMed 20610558. Source: BHF-UCL enzyme binding Inferred from direct assay PubMed 20610558. Source: BHF-UCL enzyme inhibitor activity Inferred from direct assay PubMed 19996319PubMed 20610558. Source: BHF-UCL glucuronosyltransferase activity Inferred from direct assay PubMed 18052087PubMed 19996319PubMed 20056724PubMed 20308471. Source: BHF-UCL retinoic acid binding Inferred from direct assay PubMed 20308471. Source: BHF-UCL
Complete GO annotation...

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: Q9HAW7-1)

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 – 530	505	UDP-glucuronosyltransferase 1-7		PRO_0000036006
Regions
	Transmembrane	488 – 504	17	Helical; Potential
Amino acid modifications
	Glycosylation	71	1	N-linked (GlcNAc...) Potential
	Glycosylation	292	1	N-linked (GlcNAc...) Potential
	Glycosylation	344	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	129	1	N → K in allele UGT1A7*2 and allele UGT1A7*3. Ref.2 Ref.3 Ref.4 Corresponds to variant rs17868323 [ dbSNP | Ensembl ].		VAR_015556
	Natural variant	131	1	R → K in allele UGT1A7*2 and allele UGT1A7*3. Ref.2 Ref.3 Ref.4		VAR_015557
	Natural variant	131	1	R → Q. Corresponds to variant rs17868324 [ dbSNP | Ensembl ].		VAR_052462
	Natural variant	208	1	W → R in allele UGT1A7*3 and allele UGT1A7*4. Ref.2 Ref.3 Ref.4 Corresponds to variant rs11692021 [ dbSNP | Ensembl ].		VAR_015558
Experimental info
	Sequence conflict	412	1	V → A in AAB81536. Ref.1
	Sequence conflict	433	1	Y → F in AAB81536. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 23, 2003. Version 2. Checksum: 7D759A382AE871D3	FASTA	530	59,819
	10 20 30 40 50 60 MARAGWTGLL PLYVCLLLTC GFAKAGKLLV VPMDGSHWFT MQSVVEKLIL RGHEVVVVMP 70 80 90 100 110 120 EVSWQLGRSL NCTVKTYSTS YTLEDQDREF MVFADARWTA PLRSAFSLLT SSSNGIFDLF 130 140 150 160 170 180 FSNCRSLFND RKLVEYLKES CFDAVFLDPF DACGLIVAKY FSLPSVVFAR GIFCHYLEEG 190 200 210 220 230 240 AQCPAPLSYV PRLLLGFSDA MTFKERVWNH IMHLEEHLFC PYFFKNVLEI ASEILQTPVT 250 260 270 280 290 300 AYDLYSHTSI WLLRTDFVLE YPKPVMPNMI FIGGINCHQG KPVPMEFEAY 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

References

[1]	"Differential expression of the UGT1A locus in human liver, biliary, and gastric tissue: identification of UGT1A7 and UGT1A10 transcripts in extrahepatic tissue." Strassburg C.P., Oldhafer K., Manns M.P., Tukey R.H. Mol. Pharmacol. 52:212-220(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LYS-129; LYS-131 AND ARG-208.
[3]	"Structural heterogeneity at the UDP-glucuronosyltransferase 1 locus: functional consequences of three novel missense mutations in the human UGT1A7 gene." Guillemette C., Ritter J.K., Auyeung D.J., Kessler F.K., Housman D.E. Pharmacogenetics 10:629-644(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LYS-129; LYS-131 AND ARG-208, CHARACTERIZATION OF ALLELES.
[4]	"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 LYS-129; LYS-131 AND ARG-208.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U89507 mRNA. Translation: AAB81536.1. AF297093 Genomic DNA. Translation: AAG30419.1.
IPI	IPI00384872.
RefSeq	NP_061950.2. NM_019077.2.
UniGene	Hs.554822.
3D structure databases
ProteinModelPortal	Q9HAW7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000362525.
Protein family/group databases
CAZy	GT1. Glycosyltransferase Family 1.
PTM databases
PhosphoSite	Q9HAW7.
Polymorphism databases
DMDM	30173486.
Proteomic databases
PaxDb	Q9HAW7.
PRIDE	Q9HAW7.
Protocols and materials databases
DNASU	54577.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373426; ENSP00000362525; ENSG00000244122.
GeneID	54577.
KEGG	hsa:54577.
UCSC	uc002vut.3. human.
Organism-specific databases
CTD	54577.
GeneCards	GC02P234581.
HGNC	HGNC:12539. UGT1A7.
MIM	191740. gene. 606432. gene.
neXtProt	NX_Q9HAW7.
PharmGKB	PA37182.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1819.
HOGENOM	HOG000220832.
HOVERGEN	HBG004033.
KO	K00699.
OMA	ENAVCLM.
OrthoDB	EOG45B1FF.
Enzyme and pathway databases
BRENDA	2.4.1.17. 2681.
Reactome	REACT_111217. Metabolism.
SABIO-RK	Q9HAW7.
Gene expression databases
ArrayExpress	Q9HAW7.
Bgee	Q9HAW7.
Genevestigator	Q9HAW7.
GermOnline	ENSG00000167165. Homo sapiens.
Family and domain databases
InterPro	IPR002213. UDP_glucos_trans. [Graphical view]
PANTHER	PTHR11926. PTHR11926. 1 hit.
Pfam	PF00201. UDPGT. 1 hit. [Graphical view]
PROSITE	PS00375. UDPGT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q9HAW7.
ChEMBL	CHEMBL1743317.
GenomeRNAi	54577.
NextBio	57082.
SOURCE	Search...

Entry information

Entry name

UD17_HUMAN

Accession

Primary (citable) accession number: Q9HAW7
Secondary accession number(s): O00473

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 11, 2003
Last sequence update:	April 23, 2003
Last modified:	May 1, 2013
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.