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P08236 (BGLR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 156. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-glucuronidase

EC=3.2.1.31
Alternative name(s):
Beta-G1
Gene names
Name:GUSB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length651 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Ref.8
Chain23 – 651629Beta-glucuronidase
PRO_0000012161

Sites

Active site4511Proton donor

Amino acid modifications

Glycosylation1731N-linked (GlcNAc...) Ref.13
Glycosylation2721N-linked (GlcNAc...) Ref.11 Ref.12 Ref.13
Glycosylation4201N-linked (GlcNAc...)
Glycosylation6311N-linked (GlcNAc...) Ref.13

Natural variations

Alternative sequence305 – 35551Missing in isoform Short.
VSP_001799
Natural variant301P → S in MPS7.
VAR_058511
Natural variant381C → G in MPS7; very mild phenotype. Ref.26
VAR_037914
Natural variant521S → F in MPS7; loss of activity. Ref.25
VAR_037915
Natural variant1361G → R in MPS7. Ref.23
VAR_037916
Natural variant1481P → S in MPS7. Ref.22
VAR_037917
Natural variant1501E → K in MPS7. Ref.23
VAR_037918
Natural variant1521D → G in MPS7.
VAR_058512
Natural variant1521D → N Reduced activity levels without apparent pathogenic consequences. Ref.21 Ref.26
Corresponds to variant rs149606212 [ dbSNP | Ensembl ].
VAR_037919
Natural variant1761L → F in MPS7. Ref.20 Ref.21 Ref.23 Ref.27
VAR_037920
Natural variant2161R → W in MPS7. Ref.16 Ref.23
VAR_003196
Natural variant2431L → P in MPS7.
VAR_058513
Natural variant3201Y → C in MPS7. Ref.23
VAR_037921
Natural variant3201Y → S in MPS7. Ref.23
VAR_037922
Natural variant3391N → S in MPS7.
VAR_058514
Natural variant3501K → N in MPS7. Ref.28
Corresponds to variant rs121918182 [ dbSNP | Ensembl ].
VAR_037923
Natural variant3511H → Y in MPS7. Ref.23
Corresponds to variant rs191153460 [ dbSNP | Ensembl ].
VAR_037924
Natural variant3541A → V in MPS7. Ref.17
VAR_003197
Natural variant361 – 3699Missing in MPS7.
VAR_058515
Natural variant3621D → N in MPS7.
VAR_058516
Natural variant3641P → L in MPS7.
VAR_058517
Natural variant3741R → C in MPS7. Ref.23
VAR_037925
Natural variant3761L → F.
Corresponds to variant rs11559283 [ dbSNP | Ensembl ].
VAR_055884
Natural variant3821R → C in MPS7. Ref.18 Ref.23
VAR_003198
Natural variant3821R → H in MPS7. Ref.23
VAR_037926
Natural variant4081P → S in MPS7. Ref.24
VAR_037927
Natural variant4151P → L in MPS7. Ref.24
VAR_037928
Natural variant4351R → P in MPS7. Ref.23
VAR_037929
Natural variant4771R → W in MPS7. Ref.23
VAR_037930
Natural variant4951Y → C in MPS7. Ref.22
VAR_037931
Natural variant5081Y → C in MPS7. Ref.23
VAR_037932
Natural variant5401E → K in MPS7.
VAR_058518
Natural variant5721G → D in MPS7. Ref.23
VAR_037933
Natural variant5771R → L in MPS7; loss of activity. Ref.28
VAR_037934
Natural variant6061K → N in MPS7. Ref.23
VAR_037935
Natural variant6071G → A in MPS7.
VAR_058519
Natural variant6111R → W in MPS7. Ref.17
VAR_003199
Natural variant6191A → V in MPS7. Ref.18
VAR_003200
Natural variant6261Y → H in MPS7; very mild phenotype. Ref.26
VAR_037936
Natural variant6271W → C in MPS7. Ref.19 Ref.23
VAR_003201
Natural variant6491L → P. Ref.1 Ref.20
Corresponds to variant rs9530 [ dbSNP | Ensembl ].
VAR_016179

Secondary structure

.................................................................................................................. 651
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified May 1, 2007. Version 2.
Checksum: 6BA7B1D935C9ABBD

FASTA65174,732
        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 

« Hide

Isoform Short [UniParc].

Checksum: 8101B66EA73520F8
Show »

FASTA60069,142

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
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.
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

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.
PIRA26581.
RefSeqNP_000172.2. NM_000181.3.
XP_005250354.1. XM_005250297.2.
UniGeneHs.255230.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1BHGX-ray2.53A/B21-633[»]
3HN3X-ray1.70A/B/D/E21-633[»]
ProteinModelPortalP08236.
SMRP08236. Positions 22-632.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109245. 4 interactions.
DIPDIP-29724N.
IntActP08236. 3 interactions.
MINTMINT-4054501.
STRING9606.ENSP00000302728.

Chemistry

ChEMBLCHEMBL2728.

Protein family/group databases

CAZyGH2. Glycoside Hydrolase Family 2.

PTM databases

PhosphoSiteP08236.

Polymorphism databases

DMDM146345377.

Proteomic databases

PaxDbP08236.
PRIDEP08236.

Protocols and materials databases

DNASU2990.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304895; ENSP00000302728; ENSG00000169919. [P08236-1]
ENST00000345660; ENSP00000340734; ENSG00000169919. [P08236-2]
GeneID2990.
KEGGhsa:2990.
UCSCuc003tun.3. human. [P08236-1]

Organism-specific databases

CTD2990.
GeneCardsGC07M065425.
H-InvDBHIX0057492.
HGNCHGNC:4696. GUSB.
HPAHPA036322.
MIM253220. phenotype.
611499. gene.
neXtProtNX_P08236.
Orphanet584. Mucopolysaccharidosis type 7.
PharmGKBPA29075.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3250.
HOGENOMHOG000120896.
HOVERGENHBG004843.
InParanoidP08236.
KOK01195.
OMAYGHMEVI.
OrthoDBEOG7288QR.
PhylomeDBP08236.
TreeFamTF300685.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpressP08236.
BgeeP08236.
CleanExHS_GUSB.
GenevestigatorP08236.

Family and domain databases

Gene3D2.60.120.260. 1 hit.
2.60.40.320. 1 hit.
3.20.20.80. 1 hit.
InterProIPR008979. 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]
PfamPF00703. Glyco_hydro_2. 1 hit.
PF02836. Glyco_hydro_2_C. 1 hit.
PF02837. Glyco_hydro_2_N. 1 hit.
[Graphical view]
PRINTSPR00132. GLHYDRLASE2.
SUPFAMSSF49303. SSF49303. 1 hit.
SSF49785. SSF49785. 1 hit.
SSF51445. SSF51445. 1 hit.
PROSITEPS00719. GLYCOSYL_HYDROL_F2_1. 1 hit.
PS00608. GLYCOSYL_HYDROL_F2_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP08236.
GeneWikiGUSB.
GenomeRNAi2990.
NextBio11852.
PROP08236.
SOURCESearch...

Entry information

Entry nameBGLR_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 156 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries