P08236 (BGLR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [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	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
Involvement in disease	Mucopolysaccharidosis 7 (MPS7) [MIM:253220]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
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 Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement. Source: Reactome hyaluronan catabolic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	lysosomal lumen Traceable author statement. Source: Reactome
Molecular_function	beta-glucuronidase activity Traceable author statement. Source: Reactome
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...) Ref.13

Glycosylation

272

1

N-linked (GlcNAc...) Ref.11 Ref.12 Ref.13

Glycosylation

420

1

N-linked (GlcNAc...)

Glycosylation

631

1

N-linked (GlcNAc...) Ref.13

Natural variations

Alternative sequence

305 – 355

51

Missing in isoform Short.

VSP_001799

Natural variant

30

1

P → S in MPS7.

VAR_058511

Natural variant

38

1

C → G in MPS7; very mild phenotype. Ref.26

VAR_037914

Natural variant

52

1

S → F in MPS7; loss of activity. Ref.25

VAR_037915

Natural variant

136

1

G → R in MPS7. Ref.23

VAR_037916

Natural variant

148

1

P → S in MPS7. Ref.22

VAR_037917

Natural variant

150

1

E → K in MPS7. Ref.23

VAR_037918

Natural variant

152

1

D → G in MPS7.

VAR_058512

Natural variant

152

1

D → N Reduced activity levels without apparent pathogenic consequences. Ref.21 Ref.26

VAR_037919

Natural variant

176

1

L → F in MPS7. Ref.20 Ref.21 Ref.23 Ref.27

VAR_037920

Natural variant

216

1

R → W in MPS7. Ref.16 Ref.23

VAR_003196

Natural variant

243

1

L → P in MPS7.

VAR_058513

Natural variant

320

1

Y → C in MPS7. Ref.23

VAR_037921

Natural variant

320

1

Y → S in MPS7. Ref.23

VAR_037922

Natural variant

339

1

N → S in MPS7.

VAR_058514

Natural variant

350

1

K → N in MPS7. Ref.28

VAR_037923

Natural variant

351

1

H → Y in MPS7. Ref.23

VAR_037924

Natural variant

354

1

A → V in MPS7. Ref.17

VAR_003197

Natural variant

361 – 369

9

Missing in MPS7.

VAR_058515

Natural variant

362

1

D → N in MPS7.

VAR_058516

Natural variant

364

1

P → L in MPS7.

VAR_058517

Natural variant

374

1

R → C in MPS7. Ref.23

VAR_037925

Natural variant

376

1

L → F.
Corresponds to variant rs11559283 [ dbSNP | Ensembl ].

VAR_055884

Natural variant

382

1

R → C in MPS7. Ref.18 Ref.23

VAR_003198

Natural variant

382

1

R → H in MPS7. Ref.23

VAR_037926

Natural variant

408

1

P → S in MPS7. Ref.24

VAR_037927

Natural variant

415

1

P → L in MPS7. Ref.24

VAR_037928

Natural variant

435

1

R → P in MPS7. Ref.23

VAR_037929

Natural variant

477

1

R → W in MPS7. Ref.23

VAR_037930

Natural variant

495

1

Y → C in MPS7. Ref.22

VAR_037931

Natural variant

508

1

Y → C in MPS7. Ref.23

VAR_037932

Natural variant

540

1

E → K in MPS7.

VAR_058518

Natural variant

572

1

G → D in MPS7. Ref.23

VAR_037933

Natural variant

577

1

R → L in MPS7; loss of activity. Ref.28

VAR_037934

Natural variant

606

1

K → N in MPS7. Ref.23

VAR_037935

Natural variant

607

1

G → A in MPS7.

VAR_058519

Natural variant

611

1

R → W in MPS7. Ref.17

VAR_003199

Natural variant

619

1

A → V in MPS7. Ref.18

VAR_003200

Natural variant

626

1

Y → H in MPS7; very mild phenotype. Ref.26

VAR_037936

Natural variant

627

1

W → C in MPS7. Ref.19 Ref.23

VAR_003201

Natural variant

649

1

L → P. Ref.1 Ref.20
Corresponds to variant rs9530 [ dbSNP | Ensembl ].

VAR_016179

Secondary structure

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651

Helix Strand Turn

Details...

Beta strand

33 – 35

3

Beta strand

38 – 40

3

Beta strand

43 – 49

7

Beta strand

52 – 55

4

Helix

57 – 60

4

Helix

63 – 65

3

Helix

68 – 71

4

Beta strand

75 – 81

7

Turn

84 – 86

3

Helix

90 – 93

4

Beta strand

97 – 105

9

Helix

109 – 113

5

Beta strand

117 – 124

8

Beta strand

128 – 134

7

Beta strand

137 – 147

11

Beta strand

149 – 152

4

Helix

154 – 157

4

Beta strand

166 – 173

8

Beta strand

180 – 182

3

Beta strand

185 – 188

4

Turn

192 – 194

3

Beta strand

200 – 203

4

Beta strand

206 – 208

3

Beta strand

218 – 238

21

Beta strand

241 – 252

12

Beta strand

256 – 263

8

Beta strand

265 – 267

3

Beta strand

269 – 282

14

Turn

291 – 293

3

Beta strand

294 – 296

3

Beta strand

301 – 311

11

Beta strand

314 – 324

11

Beta strand

329 – 331

3

Beta strand

336 – 338

3

Beta strand

341 – 343

3

Beta strand

345 – 349

5

Turn

355 – 357

3

Helix

363 – 376

14

Beta strand

380 – 382

3

Helix

390 – 399

10

Beta strand

402 – 406

5

Helix

415 – 417

3

Helix

420 – 437

18

Beta strand

443 – 451

9

Helix

457 – 473

17

Beta strand

479 – 483

5

Turn

487 – 489

3

Helix

493 – 495

3

Beta strand

497 – 502

6

Turn

505 – 507

3

Beta strand

508 – 510

3

Helix

514 – 516

3

Helix

517 – 532

16

Beta strand

536 – 540

5

Helix

559 – 574

16

Turn

575 – 580

6

Beta strand

581 – 587

7

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 [UniParc]. 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS).
[15]	"Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)." Tomatsu S., Montano A.M., Dung V.C., Grubb J.H., Sly W.S. Hum. Mutat. 30:511-519(2009) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON VARIANTS.
[16]	"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] [Europe PMC] [Abstract] Cited for: VARIANT MPS7 TRP-216.
[17]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS MPS7 VAL-354 AND TRP-611.
[18]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS MPS7 CYS-382 AND VAL-619.
[19]	"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] [Europe PMC] [Abstract] Cited for: VARIANT MPS7 CYS-627.
[20]	"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] [Europe PMC] [Abstract] Cited for: VARIANT MPS7 PHE-176, VARIANT PRO-649.
[21]	"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] [Europe PMC] [Abstract] Cited for: VARIANT MPS7 PHE-176, VARIANT ASN-152, CHARACTERIZATION OF VARIANT ASN-152.
[22]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS MPS7 SER-148 AND CYS-495.
[23]	"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] [Europe PMC] [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.
[24]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS MPS7 SER-408 AND LEU-415.
[25]	"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] [Europe PMC] [Abstract] Cited for: VARIANT MPS7 PHE-52, CHARACTERIZATION OF VARIANT MPS7 PHE-52.
[26]	"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] [Europe PMC] [Abstract] Cited for: VARIANT ASN-152, VARIANTS MPS7 GLY-38 AND HIS-626.
[27]	"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] [Europe PMC] [Abstract] Cited for: VARIANT MPS7 PHE-176.
[28]	"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] [Europe PMC] [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

EMBL
GenBank
DDBJ

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_000172.2. NM_000181.3.

UniGene

Hs.255230.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1BHG	X-ray	2.53	A/B	21-633	[»]
3HN3	X-ray	1.70	A/B/D/E	21-633	[»]

ProteinModelPortal

P08236.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-29724N.

IntAct

P08236. 2 interactions.

MINT

MINT-4054501.

STRING

9606.ENSP00000302728.

Protein family/group databases

CAZy

GH2. Glycoside Hydrolase Family 2.

PTM databases

PhosphoSite

P08236.

Polymorphism databases

DMDM

146345377.

Proteomic databases

PaxDb

P08236.

PRIDE

P08236.

Protocols and materials databases

DNASU

2990.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000304895; ENSP00000302728; ENSG00000169919.
ENST00000345660; ENSP00000340734; ENSG00000169919.

GeneID

2990.

KEGG

hsa:2990.

UCSC

uc003tun.3. human.

Organism-specific databases

CTD

2990.

GeneCards

GC07M065425.

H-InvDB

HIX0057492.

HGNC

HGNC:4696. GUSB.

HPA

HPA036322.

MIM

253220. phenotype.
611499. gene.

neXtProt

NX_P08236.

Orphanet

584. Mucopolysaccharidosis type 7.

PharmGKB

PA29075.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG3250.

HOGENOM

HOG000120896.

HOVERGEN

HBG004843.

InParanoid

P08236.

KO

K01195.

OMA

GHMEVIQ.

OrthoDB

EOG4X97GN.

PhylomeDB

P08236.

Enzyme and pathway databases

Reactome

REACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpress

P08236.

Bgee

P08236.

CleanEx

HS_GUSB.

Genevestigator

P08236.

GermOnline

ENSG00000169919. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.320. 1 hit.
3.20.20.80. 1 hit.

InterPro

IPR008979. Galactose-bd-like.
IPR006101. Glyco_hydro_2.
IPR013812. Glyco_hydro_2/20_Ig-like.
IPR023232. Glyco_hydro_2_AS.
IPR023230. Glyco_hydro_2_CS.
IPR006102. Glyco_hydro_2_Ig-like.
IPR006104. Glyco_hydro_2_N.
IPR006103. Glyco_hydro_2_TIM.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]

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.

SUPFAM

SSF49785. Gal_bind_like. 1 hit.
SSF49303. Glyco_hydro_2Ig. 1 hit.
SSF51445. Glyco_hydro_cat. 1 hit.

PROSITE

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

ProtoNet

Search...

Other

ChEMBL

CHEMBL2728.

EvolutionaryTrace

P08236.

GenomeRNAi

2990.

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:	May 1, 2013
This is version 146 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.