Reviewed, UniProtKB/Swiss-Prot Q9HAW7 (UD17_HUMAN)

Names and origin

Protein names

Recommended name:
    UDP-glucuronosyltransferase 1-7
    EC=2.4.1.17
Alternative name(s):
    UDP-glucuronosyltransferase 1A7
      Short name=UDPGT
      Short name=UGT1*7
    UGT1-07
      Short name=UGT1.7
    UGT-1G
      Short name=UGT1G

Gene names

Name:	UGT1A7
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	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
Molecular function	Glycosyltransferase Transferase
PTM	Acetylation Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	metabolic process Non-traceable author statement. Source: UniProtKB
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 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	Potential
Amino acid modifications
	Modified residue	350	1	N6-acetyllysine By similarity
	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. dbSNP rs17868323. Ref.2 Ref.3		VAR_015556
	Natural variant	131	1	R → K in allele UGT1A7*2 and allele UGT1A7*3. Ref.2 Ref.3		VAR_015557
	Natural variant	131	1	R → Q: dbSNP rs17868324. Ref.2 Ref.3		VAR_052462
	Natural variant	208	1	W → R in allele UGT1A7*3 and allele UGT1A7*4. dbSNP rs11692021. Ref.2 Ref.3		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: 9271343] [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: 11434514] [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: 11037804] [Abstract] Cited for: VARIANTS LYS-129; LYS-131 AND ARG-208, CHARACTERIZATION OF ALLELES.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U89507 mRNA. Translation: AAB81536.1. AF297093 Genomic DNA. Translation: AAG30419.1.
IPI	IPI00384872.
RefSeq	NP_061950.2.
UniGene	Hs.554822
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT1. Glycosyltransferase Family 1.
PTM databases
PhosphoSite	Q9HAW7.
Proteomic databases
PRIDE	Q9HAW7.
Genome annotation databases
Ensembl	ENSG00000167165. Homo sapiens. [Contig view]
GeneID	54577.
KEGG	hsa:54577.
UCSC	uc002vut.1. human.
Organism-specific databases
GeneCards	GC02P234218.
HGNC	HGNC:12539. UGT1A7.
MIM	191740. gene. 606432. gene.
Orphanet	205. Crigler-Najjar syndrome. 357. Gilbert syndrome. 2312. Hyperbilirubinemia transient familial neonatal.
PharmGKB	PA37182.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9HAW7.
OMA	Q9HAW7. EDQDREF.
Enzyme and pathway databases
BRENDA	2.4.1.17. 247.
Reactome	REACT_13433. Biological oxidations.
Gene expression databases
ArrayExpress	Q9HAW7.
Bgee	Q9HAW7.
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
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:	July 7, 2009
This is version 66 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)