Reviewed, UniProtKB/Swiss-Prot P08236 (BGLR_HUMAN)

Names and origin

Protein names

Recommended name:
    Beta-glucuronidase
    EC=3.2.1.31
Alternative name(s):
    Beta-G1

Gene names

Name:

GUSB

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	651 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	Plays an important role in the degradation of dermatan and keratan sulfates.
Catalytic activity	A beta-D-glucuronoside + H2O = D-glucuronate + an alcohol.
Enzyme regulation	Inhibited by L-aspartic acid.
Subunit structure	Homotetramer.
Subcellular location	Lysosome.
Post-translational modification	N-linked glycosylated with 3 to 4 oligosaccharide chains. Ref.11 Ref.12
Involvement in disease	Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [MIM:253220]; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis [MIM:236750]. Hydrops fetalis is a generalized edema of the fetus with fluid accumulation in the body cavities.
Sequence similarities	Belongs to the glycosyl hydrolase 2 family.

Ontologies

Keywords
Cellular component	Lysosome
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Mucopolysaccharidosis
Domain	Signal
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	glycosaminoglycan catabolic process Traceable author statement. Source: ProtInc
Cellular component	lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	beta-glucuronidase activity Ref.1 Traceable author statement. Source: ProtInc cation binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: P08236-1)

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.

Isoform Short (identifier: P08236-2)

The sequence of this isoform differs from the canonical sequence as follows:
     305-355: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 22

22

Ref.8

Chain

23 – 651

629

Beta-glucuronidase

PRO_0000012161

Sites

Active site

451

1

Proton donor

Amino acid modifications

Glycosylation

173

1

N-linked (GlcNAc...)

Glycosylation

272

1

N-linked (GlcNAc...) Ref.11 Ref.12

Glycosylation

420

1

N-linked (GlcNAc...)

Glycosylation

631

1

N-linked (GlcNAc...)

Natural variations

Alternative sequence

305 – 355

51

Missing in isoform Short.

VSP_001799

Natural variant

38

1

C → G in MPS7; very mild phenotype. Ref.25

VAR_037914

Natural variant

52

1

S → F in MPS7; loss of activity. Ref.24

VAR_037915

Natural variant

136

1

G → R in MPS7. Ref.22

VAR_037916

Natural variant

148

1

P → S in MPS7. Ref.21

VAR_037917

Natural variant

150

1

E → K in MPS7. Ref.22

VAR_037918

Natural variant

152

1

D → N Reduced activity levels without apparent pathogenic consequences. Ref.20 Ref.25

VAR_037919

Natural variant

176

1

L → F in MPS7. Ref.19 Ref.20 Ref.22 Ref.26

VAR_037920

Natural variant

216

1

R → W in MPS7. Ref.15 Ref.22

VAR_003196

Natural variant

320

1

Y → C in MPS7. Ref.22

VAR_037921

Natural variant

320

1

Y → S in MPS7. Ref.22

VAR_037922

Natural variant

350

1

K → N in MPS7. Ref.27

VAR_037923

Natural variant

351

1

H → Y in MPS7. Ref.22

VAR_037924

Natural variant

354

1

A → V in MPS7. Ref.16

VAR_003197

Natural variant

374

1

R → C in MPS7. Ref.22

VAR_037925

Natural variant

376

1

L → F: dbSNP rs11559283.

VAR_055884

Natural variant

382

1

R → C in MPS7. Ref.17 Ref.22

VAR_003198

Natural variant

382

1

R → H in MPS7. Ref.17 Ref.22

VAR_037926

Natural variant

408

1

P → S in MPS7. Ref.23

VAR_037927

Natural variant

415

1

P → L in MPS7. Ref.23

VAR_037928

Natural variant

435

1

R → P in MPS7. Ref.22

VAR_037929

Natural variant

477

1

R → W in MPS7. Ref.22

VAR_037930

Natural variant

495

1

Y → C in MPS7. Ref.21

VAR_037931

Natural variant

508

1

Y → C in MPS7. Ref.22

VAR_037932

Natural variant

572

1

G → D in MPS7. Ref.22

VAR_037933

Natural variant

577

1

R → L in MPS7; loss of activity. Ref.27

VAR_037934

Natural variant

606

1

K → N in MPS7. Ref.22

VAR_037935

Natural variant

611

1

R → W in MPS7. Ref.16

VAR_003199

Natural variant

619

1

A → V in MPS7. Ref.17

VAR_003200

Natural variant

626

1

Y → H in MPS7; very mild phenotype. Ref.25

VAR_037936

Natural variant

627

1

W → C in MPS7. Ref.18 Ref.22

VAR_003201

Natural variant

649

1

L → P: dbSNP rs9530. Ref.19 Ref.1

VAR_016179

Secondary structure

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651

Helix Strand Turn

Details...

Beta strand

33 – 35

3

Beta strand

41 – 43

3

Beta strand

46 – 50

5

Beta strand

52 – 55

4

Helix

57 – 60

4

Helix

63 – 65

3

Helix

68 – 71

4

Beta strand

83 – 88

6

Helix

90 – 93

4

Beta strand

97 – 106

10

Turn

109 – 112

4

Beta strand

115 – 124

10

Beta strand

128 – 133

6

Beta strand

135 – 146

12

Beta strand

149 – 151

3

Beta strand

165 – 172

8

Beta strand

177 – 185

9

Beta strand

192 – 195

4

Beta strand

206 – 208

3

Beta strand

218 – 226

9

Beta strand

232 – 234

3

Beta strand

239 – 242

4

Beta strand

245 – 247

3

Beta strand

256 – 263

8

Beta strand

265 – 267

3

Beta strand

269 – 273

5

Beta strand

275 – 278

4

Turn

291 – 293

3

Beta strand

301 – 310

10

Beta strand

312 – 319

8

Beta strand

322 – 324

3

Beta strand

329 – 331

3

Beta strand

336 – 338

3

Beta strand

345 – 349

5

Turn

355 – 357

3

Helix

363 – 376

14

Beta strand

380 – 382

3

Helix

392 – 396

5

Beta strand

402 – 405

4

Helix

416 – 418

3

Helix

420 – 437

18

Beta strand

441 – 451

11

Helix

457 – 471

15

Beta strand

479 – 483

5

Turn

487 – 489

3

Helix

493 – 495

3

Beta strand

497 – 502

6

Beta strand

507 – 510

4

Helix

514 – 531

18

Beta strand

536 – 540

5

Helix

559 – 576

18

Turn

577 – 580

4

Beta strand

581 – 590

10

Beta strand

600 – 604

5

Helix

617 – 631

15

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified May 1, 2007. Version 2. Checksum: 6BA7B1D935C9ABBD	FASTA	651	74,732
	10 20 30 40 50 60 MARGSAVAWA ALGPLLWGCA LGLQGGMLYP QESPSRECKE LDGLWSFRAD FSDNRRRGFE 70 80 90 100 110 120 EQWYRRPLWE SGPTVDMPVP SSFNDISQDW RLRHFVGWVW YEREVILPER WTQDLRTRVV 130 140 150 160 170 180 LRIGSAHSYA IVWVNGVDTL EHEGGYLPFE ADISNLVQVG PLPSRLRITI AINNTLTPTT 190 200 210 220 230 240 LPPGTIQYLT DTSKYPKGYF VQNTYFDFFN YAGLQRSVLL YTTPTTYIDD ITVTTSVEQD 250 260 270 280 290 300 SGLVNYQISV KGSNLFKLEV RLLDAENKVV ANGTGTQGQL KVPGVSLWWP YLMHERPAYL 310 320 330 340 350 360 YSLEVQLTAQ TSLGPVSDFY TLPVGIRTVA VTKSQFLING KPFYFHGVNK HEDADIRGKG 370 380 390 400 410 420 FDWPLLVKDF NLLRWLGANA FRTSHYPYAE EVMQMCDRYG IVVIDECPGV GLALPQFFNN 430 440 450 460 470 480 VSLHHHMQVM EEVVRRDKNH PAVVMWSVAN EPASHLESAG YYLKMVIAHT KSLDPSRPVT 490 500 510 520 530 540 FVSNSNYAAD KGAPYVDVIC LNSYYSWYHD YGHLELIQLQ LATQFENWYK KYQKPIIQSE 550 560 570 580 590 600 YGAETIAGFH QDPPLMFTEE YQKSLLEQYH LGLDQKRRKY VVGELIWNFA DFMTEQSPTR 610 620 630 640 650 VLGNKKGIFT RQRQPKSAAF LLRERYWKIA NETRYPHSVA KSQCLENSLF T
	Isoform Short. Checksum: 8101B66EA73520F8	FASTA	600	69,142
	10 20 30 40 50 60 MARGSAVAWA ALGPLLWGCA LGLQGGMLYP QESPSRECKE LDGLWSFRAD FSDNRRRGFE 70 80 90 100 110 120 EQWYRRPLWE SGPTVDMPVP SSFNDISQDW RLRHFVGWVW YEREVILPER WTQDLRTRVV 130 140 150 160 170 180 LRIGSAHSYA IVWVNGVDTL EHEGGYLPFE ADISNLVQVG PLPSRLRITI AINNTLTPTT 190 200 210 220 230 240 LPPGTIQYLT DTSKYPKGYF VQNTYFDFFN YAGLQRSVLL YTTPTTYIDD ITVTTSVEQD 250 260 270 280 290 300 SGLVNYQISV KGSNLFKLEV RLLDAENKVV ANGTGTQGQL KVPGVSLWWP YLMHERPAYL 310 320 330 340 350 360 YSLEIRGKGF DWPLLVKDFN LLRWLGANAF RTSHYPYAEE VMQMCDRYGI VVIDECPGVG 370 380 390 400 410 420 LALPQFFNNV SLHHHMQVME EVVRRDKNHP AVVMWSVANE PASHLESAGY YLKMVIAHTK 430 440 450 460 470 480 SLDPSRPVTF VSNSNYAADK GAPYVDVICL NSYYSWYHDY GHLELIQLQL ATQFENWYKK 490 500 510 520 530 540 YQKPIIQSEY GAETIAGFHQ DPPLMFTEEY QKSLLEQYHL GLDQKRRKYV VGELIWNFAD 550 560 570 580 590 600 FMTEQSPTRV LGNKKGIFTR QRQPKSAAFL LRERYWKIAN ETRYPHSVAK SQCLENSLFT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, sequencing, and expression of cDNA for human beta-glucuronidase." Oshima A., Kyle J.W., Miller R.D., Hoffmann J.W., Powell P.P., Grubb J.H., Sly W.S., Tropak M., Guise K.S., Gravel R.A. Proc. Natl. Acad. Sci. U.S.A. 84:685-689(1987) [PubMed: 3468507] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PRO-649, ALTERNATIVE SPLICING. Tissue: Placenta.
[2]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon.
[7]	"Analysis of the 5' flanking region of the human beta-glucuronidase gene." Shipley J.M., Miller R.D., Wu B.M., Grubb J.H., Christensen S.G., Kyle J.W., Sly W.S. Genomics 10:1009-1018(1991) [PubMed: 1916806] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-70.
[8]	"Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase." Tanaka J., Gasa S., Sakurada K., Miyazaki T., Kasai M., Makita A. Biol. Chem. Hoppe-Seyler 373:57-62(1992) [PubMed: 1311180] [Abstract] Cited for: PROTEIN SEQUENCE OF 23-32 AND 160-175. Tissue: Placenta.
[9]	"Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase." Guise K.S., Korneluk R.G., Waye J., Lamhonwah A.-M., Quan F., Palmer R., Ganschow R.E., Sly W.S., Gravel R.A. Gene 34:105-110(1985) [PubMed: 3924735] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 520-585. Tissue: Fibroblast.
[10]	"A novel inhibitor of beta-glucuronidase: L-aspartic acid." Kreamer B.L., Siegel F.L., Gourley G.R. Pediatr. Res. 50:460-466(2001) [PubMed: 11568288] [Abstract] Cited for: INHIBITION BY L-ASPARTIC ACID.
[11]	"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry." Zhang H., Li X.-J., Martin D.B., Aebersold R. Nat. Biotechnol. 21:660-666(2003) [PubMed: 12754519] [Abstract] Cited for: GLYCOSYLATION AT ASN-272.
[12]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-272, MASS SPECTROMETRY. Tissue: Plasma.
[13]	"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-173; ASN-272 AND ASN-631, MASS SPECTROMETRY. Tissue: Liver.
[14]	"Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs." Jain S., Drendel W.B., Chen Z.W., Mathews F.S., Sly W.S., Grubb J.H. Nat. Struct. Biol. 3:375-381(1996) [PubMed: 8599764] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS).
[15]	"Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes." Vervoort R., Lissens W., Liebaers I. Hum. Mutat. 2:443-445(1993) [PubMed: 8111412] [Abstract] Cited for: VARIANT MPS7 TRP-216.
[16]	"Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII." Wu B.M., Sly W.S. Hum. Mutat. 2:446-457(1993) [PubMed: 8111413] [Abstract] Cited for: VARIANTS MPS7 VAL-354 AND TRP-611.
[17]	"Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity." Tomatsu S., Fukuda S., Sukegawa K., Ikedo Y., Yamada S., Yamada Y., Sasaki T., Okamoto H., Kuwahara T., Yamaguchi S., Kiman T., Shintaku H., Isshiki G., Orii T. Am. J. Hum. Genet. 48:89-96(1991) [PubMed: 1702266] [Abstract] Cited for: VARIANTS MPS7 CYS-382 AND VAL-619.
[18]	"Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes." Shipley J.M., Klinkenberg M., Wu B.M., Bachinsky D.R., Grubb J.H., Sly W.S. Am. J. Hum. Genet. 52:517-526(1993) [PubMed: 7680524] [Abstract] Cited for: VARIANT MPS7 CYS-627.
[19]	"Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings." Wu B.M., Tomatsu S., Fukuda S., Sukegawa K., Orii T., Sly W.S. J. Biol. Chem. 269:23681-23688(1994) [PubMed: 8089138] [Abstract] Cited for: VARIANT MPS7 PHE-176, VARIANT PRO-649.
[20]	"A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene." Vervoort R., Islam M.R., Sly W., Chabas A., Wevers R., de Jong J., Liebaers I., Lissens W. Am. J. Hum. Genet. 57:798-804(1995) [PubMed: 7573038] [Abstract] Cited for: VARIANT MPS7 PHE-176, VARIANT ASN-152, CHARACTERIZATION OF VARIANT ASN-152.
[21]	"Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site." Yamada S., Tomatsu S., Sly W.S., Islam R., Wenger D.A., Fukuda S., Sukegawa K., Orii T. Hum. Mol. Genet. 4:651-655(1995) [PubMed: 7633414] [Abstract] Cited for: VARIANTS MPS7 SER-148 AND CYS-495.
[22]	"Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII." Vervoort R., Islam M.R., Sly W.S., Zabot M.T., Kleijer W.J., Chabas A., Fensom A., Young E.P., Liebaers I., Lissens W. Am. J. Hum. Genet. 58:457-471(1996) [PubMed: 8644704] [Abstract] Cited for: VARIANTS MPS7 ARG-136; LYS-150; PHE-176; TRP-216; CYS-320; SER-320; TYR-351; CYS-374; CYS-382; HIS-382; PRO-435; TRP-477; CYS-508; ASP-572; ASN-606 AND CYS-627.
[23]	"beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients." Islam M.R., Vervoort R., Lissens W., Hoo J.J., Valentino L.A., Sly W.S. Hum. Genet. 98:281-284(1996) [PubMed: 8707294] [Abstract] Cited for: VARIANTS MPS7 SER-408 AND LEU-415.
[24]	"Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region." Vervoort R., Buist N.R., Kleijer W.J., Wevers R., Fryns J.P., Liebaers I., Lissens W. Hum. Genet. 99:462-468(1997) [PubMed: 9099834] [Abstract] Cited for: VARIANT MPS7 PHE-52, CHARACTERIZATION OF VARIANT MPS7 PHE-52.
[25]	"Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote." Vervoort R., Gitzelmann R., Bosshard N., Maire I., Liebaers I., Lissens W. Hum. Genet. 102:69-78(1998) [PubMed: 9490302] [Abstract] Cited for: VARIANT ASN-152, VARIANTS MPS7 GLY-38 AND HIS-626.
[26]	"Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family." Schwartz I., Silva L.R., Leistner S., Todeschini L.A., Burin M.G., Pina-Neto J.M., Islam R.M., Shah G.N., Sly W.S., Giugliani R. Clin. Genet. 64:172-175(2003) [PubMed: 12859417] [Abstract] Cited for: VARIANT MPS7 PHE-176.
[27]	"Mutational analysis in longest known survivor of mucopolysaccharidosis type VII." Storch S., Wittenstein B., Islam R., Ullrich K., Sly W.S., Braulke T. Hum. Genet. 112:190-194(2003) [PubMed: 12522561] [Abstract] Cited for: VARIANTS MPS7 ASN-350 AND LEU-577, CHARACTERIZATION OF VARIANT MPS7 ASN-350 LEU-577.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBLGenBankDDBJ

M15182 mRNA. Translation: AAA52561.1.
AK223406 mRNA. Translation: BAD97126.1.
AC073261 Genomic DNA. Translation: AAQ96851.1.
CH236961 Genomic DNA. Translation: EAL23740.1.
CH471140 Genomic DNA. Translation: EAX07951.1.
BC014142 mRNA. Translation: AAH14142.1.
M65002 Genomic DNA. Translation: AAA52622.1.
M10618 mRNA. Translation: AAA52621.1.
S72462 Genomic DNA. Translation: AAD14101.1.

IPI

IPI00027745.
IPI00219516.

PIR

A26581.

RefSeq

NP_000172.1.

UniGene

Hs.255230

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1BHG	X-ray	2.53	A/B	21-633	[»]

ModBase

Search...

Protein family/group databases

CAZy

GH2. Glycoside Hydrolase Family 2.

Proteomic databases

PRIDE

P08236.

Genome annotation databases

Ensembl

ENSG00000169919. Homo sapiens. [Contig view]

GeneID

2990.

KEGG

hsa:2990.

UCSC

uc003tun.1. human.

Organism-specific databases

GeneCards

GC07M065064.

H-InvDB

HIX0006717.
HIX0032616.
HIX0057487.
HIX0057503.
HIX0057683.
HIX0058602.

HGNC

HGNC:4696. GUSB.

MIM

236750. phenotype.
253220. phenotype.
611499. gene.

Orphanet

584. Mucopolysaccharidosis type 7.

PharmGKB

PA29075.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P08236.

HOVERGEN

P08236.

OMA

P08236. GHMEVIQ.

Enzyme and pathway databases

BRENDA

3.2.1.31. 247.

Gene expression databases

ArrayExpress

P08236.

Bgee

P08236.

CleanEx

HS_GUSB.

GermOnline

ENSG00000169919. Homo sapiens.

Family and domain databases

InterPro

IPR006101. Glyco_hydro_2.
IPR013812. Glyco_hydro_2/20_Ig-like.
IPR006104. Glyco_hydro_2_carb-bd.
IPR006102. Glyco_hydro_2_Ig-like.
IPR006103. Glyco_hydro_2_TIM.
IPR013781. Glyco_hydro_sg_catalytic.
[Graphical view]

Gene3D

G3DSA:2.60.40.320. Glyco_hydro_2/20_Ig-like. 1 hit.
G3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.

Pfam

PF00703. Glyco_hydro_2. 1 hit.
PF02836. Glyco_hydro_2_C. 1 hit.
PF02837. Glyco_hydro_2_N. 1 hit.
[Graphical view]

PRINTS

PR00132. GLHYDRLASE2.

PROSITE

PS00719. GLYCOSYL_HYDROL_F2_1. 1 hit.
PS00608. GLYCOSYL_HYDROL_F2_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

11852.

SOURCE

Search...

Entry information

Entry name

BGLR_HUMAN

Accession

Primary (citable) accession number: P08236
Secondary accession number(s): Q549U0, Q96CL9

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
Last sequence update:	May 1, 2007
Last modified:	July 7, 2009
This is version 111 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)