Reviewed, UniProtKB/Swiss-Prot O75795 (UDB17_HUMAN)

Names and origin

Protein names

Recommended name:
    UDP-glucuronosyltransferase 2B17
      Short name=UDPGT 2B17
    EC=2.4.1.17
Alternative name(s):
    C19-steroid-specific UDP-glucuronosyltransferase

Gene names

Name:

UGT2B17

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 transcript level.

General annotation (Comments)

Function	UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT).
Catalytic activity	UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.
Subcellular location	Microsome membrane; Single-pass membrane protein Potential. Endoplasmic reticulum membrane; Single-pass membrane protein Potential.
Tissue specificity	Expressed in various tissues including the liver, kidney, testis, uterus, placenta, mammary gland, adrenal gland, skin and prostate.
Polymorphism	Genetic variations in UGT2B17 define the bone mineral density quantitative trait locus 12 (BMND12) [MIM:612560]. Variance in bone mineral density is a susceptibility factor for osteoporosis.
Involvement in disease	Copy-number variation in UGT2B17 is associated with susceptibility to osteoporosis [MIM:612560]. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture. Genetic factors due to genomic mechanisms other than individual mutation changes influence risk of osteoporosis.
Sequence similarities	Belongs to the UDP-glycosyltransferase family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Microsome
Domain	Signal Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	steroid metabolic process Ref.1 Traceable author statement. Source: ProtInc
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...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Chain	24 – 530	507	UDP-glucuronosyltransferase 2B17		PRO_0000036041
Regions
	Transmembrane	495 – 515	21	Potential
Amino acid modifications
	Glycosylation	65	1	N-linked (GlcNAc...) Potential
	Glycosylation	316	1	N-linked (GlcNAc...) Potential
	Glycosylation	483	1	N-linked (GlcNAc...) Potential

Sequences

	Sequence		Length	Mass (Da)
	O75795-1 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: 8E59EBC43CF43760	FASTA	530	61,095
	10 20 30 40 50 60 MSLKWMSVFL LMQLSCYFSS GSCGKVLVWP TEYSHWINMK TILEELVQRG HEVIVLTSSA 70 80 90 100 110 120 SILVNASKSS AIKLEVYPTS LTKNDLEDFF MKMFDRWTYS ISKNTFWSYF SQLQELCWEY 130 140 150 160 170 180 SDYNIKLCED AVLNKKLMRK LQESKFDVLL ADAVNPCGEL LAELLNIPFL YSLRFSVGYT 190 200 210 220 230 240 VEKNGGGFLF PPSYVPVVMS ELSDQMIFME RIKNMIYMLY FDFWFQAYDL KKWDQFYSEV 250 260 270 280 290 300 LGRPTTLFET MGKAEMWLIR TYWDFEFPRP FLPNVDFVGG LHCKPAKPLP KEMEEFVQSS 310 320 330 340 350 360 GENGIVVFSL GSMISNMSEE SANMIASALA QIPQKVLWRF DGKKPNTLGS NTRLYKWLPQ 370 380 390 400 410 420 NDLLGHPKTK AFITHGGTNG IYEAIYHGIP MVGIPLFADQ HDNIAHMKAK GAALSVDIRT 430 440 450 460 470 480 MSSRDLLNAL KSVINDPIYK ENIMKLSRIH HDQPVKPLDR AVFWIEFVMR HKGAKHLRVA 490 500 510 520 530 AHNLTWIQYH SLDVIAFLLA CVATMIFMIT KCCLFCFRKL AKTGKKKKRD

References

[1]	"Isolation and characterization of a novel cDNA encoding a human UDP-glucuronosyltransferase active on C19 steroids." Beaulieu M., Levesque E., Hum D.W., Belanger A. J. Biol. Chem. 271:22855-22862(1996) [PubMed: 8798464] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Prostate.
[2]	"Chromosomal localization, structure, and regulation of the UGT2B17 gene, encoding a C19 steroid metabolizing enzyme." Beaulieu M., Levesque E., Tchernof A., Beatty B.G., Belanger A., Hum D.W. DNA Cell Biol. 16:1143-1154(1997) [PubMed: 9364925] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis." Yang T.-L., Chen X.-D., Guo Y., Lei S.-F., Wang J.-T., Zhou Q., Pan F., Chen Y., Zhang Z.-X., Dong S.-S., Xu X.-H., Yan H., Liu X., Qiu C., Zhu X.-Z., Chen T., Li M., Zhang H. , Zhang L., Drees B.M., Hamilton J.J., Papasian C.J., Recker R.R., Song X.-P., Cheng J., Deng H.-W. Am. J. Hum. Genet. 83:663-674(2008) [PubMed: 18992858] [Abstract] Cited for: INVOLVEMENT IN OSTEOPOROSIS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U59209 mRNA. Translation: AAC25491.1.
IPI	IPI00026932.
RefSeq	NP_001068.1.
UniGene	Hs.575083
3D structure databases
SMR	O75795. Positions 286-447.
ModBase	Search...
Protein family/group databases
CAZy	GT1. Glycosyltransferase Family 1.
Proteomic databases
PRIDE	O75795.
Genome annotation databases
Ensembl	ENSG00000197888. Homo sapiens. [Contig view]
GeneID	7367.
KEGG	hsa:7367.
UCSC	uc003hea.1. human.
Organism-specific databases
GeneCards	GC04M069085.
H-InvDB	HIX0031526.
HGNC	HGNC:12547. UGT2B17.
MIM	601903. gene. 612560. phenotype.
PharmGKB	PA37189.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O75795.
HOVERGEN	O75795.
OMA	O75795. KWLENEK.
Enzyme and pathway databases
BRENDA	2.4.1.17. 247.
Reactome	REACT_13433. Biological oxidations.
Gene expression databases
ArrayExpress	O75795.
Bgee	O75795.
CleanEx	HS_UGT2B17.
GermOnline	ENSG00000197888. 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	28846.
SOURCE	Search...

Entry information

Entry name

UDB17_HUMAN

Accession

Primary (citable) accession number: O75795

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	November 1, 1998
Last modified:	July 7, 2009
This is version 71 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)