Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P08236

- BGLR_HUMAN

UniProt

P08236 - BGLR_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Beta-glucuronidase

Gene

GUSB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Plays an important role in the degradation of dermatan and keratan sulfates.

Catalytic activityi

A beta-D-glucuronoside + H2O = D-glucuronate + an alcohol.

Enzyme regulationi

Inhibited by L-aspartic acid.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei451 – 4511Proton donor

GO - Molecular functioni

  1. beta-glucuronidase activity Source: Reactome

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glycosaminoglycan catabolic process Source: Reactome
  3. glycosaminoglycan metabolic process Source: Reactome
  4. hyaluronan catabolic process Source: Reactome
  5. hyaluronan metabolic process Source: Reactome
  6. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

ReactomeiREACT_120752. HS-GAG degradation.
REACT_120996. Hyaluronan uptake and degradation.

Protein family/group databases

CAZyiGH2. Glycoside Hydrolase Family 2.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-glucuronidase (EC:3.2.1.31)
Alternative name(s):
Beta-G1
Gene namesi
Name:GUSB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:4696. GUSB.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. intracellular membrane-bounded organelle Source: HPA
  3. lysosomal lumen Source: Reactome
  4. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

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.13 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301P → S in MPS7.
VAR_058511
Natural varianti38 – 381C → G in MPS7; very mild phenotype. 1 Publication
VAR_037914
Natural varianti52 – 521S → F in MPS7; loss of activity. 1 Publication
VAR_037915
Natural varianti136 – 1361G → R in MPS7. 1 Publication
VAR_037916
Natural varianti148 – 1481P → S in MPS7. 1 Publication
VAR_037917
Natural varianti150 – 1501E → K in MPS7. 1 Publication
VAR_037918
Natural varianti152 – 1521D → G in MPS7.
VAR_058512
Natural varianti176 – 1761L → F in MPS7. 4 Publications
VAR_037920
Natural varianti216 – 2161R → W in MPS7. 2 Publications
VAR_003196
Natural varianti243 – 2431L → P in MPS7.
VAR_058513
Natural varianti320 – 3201Y → C in MPS7. 1 Publication
VAR_037921
Natural varianti320 – 3201Y → S in MPS7. 1 Publication
VAR_037922
Natural varianti339 – 3391N → S in MPS7.
VAR_058514
Natural varianti350 – 3501K → N in MPS7. 1 Publication
Corresponds to variant rs121918182 [ dbSNP | Ensembl ].
VAR_037923
Natural varianti351 – 3511H → Y in MPS7. 1 Publication
Corresponds to variant rs191153460 [ dbSNP | Ensembl ].
VAR_037924
Natural varianti354 – 3541A → V in MPS7. 1 Publication
VAR_003197
Natural varianti361 – 3699Missing in MPS7.
VAR_058515
Natural varianti362 – 3621D → N in MPS7.
VAR_058516
Natural varianti364 – 3641P → L in MPS7.
VAR_058517
Natural varianti374 – 3741R → C in MPS7. 1 Publication
VAR_037925
Natural varianti382 – 3821R → C in MPS7. 2 Publications
VAR_003198
Natural varianti382 – 3821R → H in MPS7. 1 Publication
VAR_037926
Natural varianti408 – 4081P → S in MPS7. 1 Publication
VAR_037927
Natural varianti415 – 4151P → L in MPS7. 1 Publication
VAR_037928
Natural varianti435 – 4351R → P in MPS7. 1 Publication
VAR_037929
Natural varianti477 – 4771R → W in MPS7. 1 Publication
VAR_037930
Natural varianti495 – 4951Y → C in MPS7. 1 Publication
VAR_037931
Natural varianti508 – 5081Y → C in MPS7. 1 Publication
VAR_037932
Natural varianti540 – 5401E → K in MPS7.
VAR_058518
Natural varianti572 – 5721G → D in MPS7. 1 Publication
VAR_037933
Natural varianti577 – 5771R → L in MPS7; loss of activity. 1 Publication
VAR_037934
Natural varianti606 – 6061K → N in MPS7. 1 Publication
VAR_037935
Natural varianti607 – 6071G → A in MPS7.
VAR_058519
Natural varianti611 – 6111R → W in MPS7. 1 Publication
VAR_003199
Natural varianti619 – 6191A → V in MPS7. 1 Publication
VAR_003200
Natural varianti626 – 6261Y → H in MPS7; very mild phenotype. 1 Publication
VAR_037936
Natural varianti627 – 6271W → C in MPS7. 2 Publications
VAR_003201
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.

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

MIMi253220. phenotype.
Orphaneti584. Mucopolysaccharidosis type 7.
PharmGKBiPA29075.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 22221 PublicationAdd
BLAST
Chaini23 – 651629Beta-glucuronidasePRO_0000012161Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi173 – 1731N-linked (GlcNAc...)1 Publication
Glycosylationi272 – 2721N-linked (GlcNAc...)3 Publications
Glycosylationi420 – 4201N-linked (GlcNAc...)
Glycosylationi631 – 6311N-linked (GlcNAc...)1 Publication

Post-translational modificationi

N-linked glycosylated with 3 to 4 oligosaccharide chains.3 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiP08236.
PaxDbiP08236.
PRIDEiP08236.

PTM databases

PhosphoSiteiP08236.

Expressioni

Gene expression databases

BgeeiP08236.
CleanExiHS_GUSB.
ExpressionAtlasiP08236. baseline and differential.
GenevestigatoriP08236.

Organism-specific databases

HPAiHPA036322.

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi109245. 8 interactions.
DIPiDIP-29724N.
IntActiP08236. 3 interactions.
MINTiMINT-4054501.
STRINGi9606.ENSP00000302728.

Structurei

Secondary structure

1
651
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi33 – 353Combined sources
Beta strandi38 – 403Combined sources
Beta strandi43 – 497Combined sources
Beta strandi52 – 554Combined sources
Helixi57 – 604Combined sources
Helixi63 – 653Combined sources
Helixi68 – 714Combined sources
Beta strandi75 – 817Combined sources
Turni84 – 863Combined sources
Helixi90 – 934Combined sources
Beta strandi97 – 1059Combined sources
Helixi109 – 1135Combined sources
Beta strandi117 – 1248Combined sources
Beta strandi128 – 1347Combined sources
Beta strandi137 – 14711Combined sources
Beta strandi149 – 1524Combined sources
Helixi154 – 1574Combined sources
Beta strandi166 – 1738Combined sources
Beta strandi180 – 1823Combined sources
Beta strandi185 – 1884Combined sources
Turni192 – 1943Combined sources
Beta strandi200 – 2034Combined sources
Beta strandi206 – 2083Combined sources
Beta strandi218 – 23821Combined sources
Beta strandi241 – 25212Combined sources
Beta strandi256 – 2638Combined sources
Beta strandi265 – 2673Combined sources
Beta strandi269 – 28214Combined sources
Turni291 – 2933Combined sources
Beta strandi294 – 2963Combined sources
Beta strandi301 – 31111Combined sources
Beta strandi314 – 32411Combined sources
Beta strandi329 – 3313Combined sources
Beta strandi336 – 3383Combined sources
Beta strandi341 – 3433Combined sources
Beta strandi345 – 3495Combined sources
Turni355 – 3573Combined sources
Helixi363 – 37614Combined sources
Beta strandi380 – 3823Combined sources
Helixi390 – 39910Combined sources
Beta strandi402 – 4065Combined sources
Helixi415 – 4173Combined sources
Helixi420 – 43718Combined sources
Beta strandi443 – 4519Combined sources
Helixi457 – 47317Combined sources
Beta strandi479 – 4835Combined sources
Turni487 – 4893Combined sources
Helixi493 – 4953Combined sources
Beta strandi497 – 5026Combined sources
Turni505 – 5073Combined sources
Beta strandi508 – 5103Combined sources
Helixi514 – 5163Combined sources
Helixi517 – 53216Combined sources
Beta strandi536 – 5405Combined sources
Helixi559 – 57416Combined sources
Turni575 – 5806Combined sources
Beta strandi581 – 5877Combined sources
Beta strandi600 – 6045Combined sources
Helixi617 – 63115Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1BHGX-ray2.53A/B21-633[»]
3HN3X-ray1.70A/B/D/E21-633[»]
ProteinModelPortaliP08236.
SMRiP08236. Positions 22-632.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08236.

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 2 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3250.
GeneTreeiENSGT00390000001752.
HOGENOMiHOG000120896.
HOVERGENiHBG004843.
InParanoidiP08236.
KOiK01195.
OMAiPSRECKE.
OrthoDBiEOG7288QR.
PhylomeDBiP08236.
TreeFamiTF300685.

Family and domain databases

Gene3Di2.60.120.260. 1 hit.
2.60.40.320. 1 hit.
3.20.20.80. 1 hit.
InterProiIPR008979. 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]
PfamiPF00703. Glyco_hydro_2. 1 hit.
PF02836. Glyco_hydro_2_C. 1 hit.
PF02837. Glyco_hydro_2_N. 1 hit.
[Graphical view]
PRINTSiPR00132. GLHYDRLASE2.
SUPFAMiSSF49303. SSF49303. 1 hit.
SSF49785. SSF49785. 1 hit.
SSF51445. SSF51445. 1 hit.
PROSITEiPS00719. GLYCOSYL_HYDROL_F2_1. 1 hit.
PS00608. GLYCOSYL_HYDROL_F2_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P08236-1) [UniParc]FASTAAdd to Basket

Also known as: Long

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.

« Hide

        10         20         30         40         50
MARGSAVAWA ALGPLLWGCA LGLQGGMLYP QESPSRECKE LDGLWSFRAD
60 70 80 90 100
FSDNRRRGFE EQWYRRPLWE SGPTVDMPVP SSFNDISQDW RLRHFVGWVW
110 120 130 140 150
YEREVILPER WTQDLRTRVV LRIGSAHSYA IVWVNGVDTL EHEGGYLPFE
160 170 180 190 200
ADISNLVQVG PLPSRLRITI AINNTLTPTT LPPGTIQYLT DTSKYPKGYF
210 220 230 240 250
VQNTYFDFFN YAGLQRSVLL YTTPTTYIDD ITVTTSVEQD SGLVNYQISV
260 270 280 290 300
KGSNLFKLEV RLLDAENKVV ANGTGTQGQL KVPGVSLWWP YLMHERPAYL
310 320 330 340 350
YSLEVQLTAQ TSLGPVSDFY TLPVGIRTVA VTKSQFLING KPFYFHGVNK
360 370 380 390 400
HEDADIRGKG FDWPLLVKDF NLLRWLGANA FRTSHYPYAE EVMQMCDRYG
410 420 430 440 450
IVVIDECPGV GLALPQFFNN VSLHHHMQVM EEVVRRDKNH PAVVMWSVAN
460 470 480 490 500
EPASHLESAG YYLKMVIAHT KSLDPSRPVT FVSNSNYAAD KGAPYVDVIC
510 520 530 540 550
LNSYYSWYHD YGHLELIQLQ LATQFENWYK KYQKPIIQSE YGAETIAGFH
560 570 580 590 600
QDPPLMFTEE YQKSLLEQYH LGLDQKRRKY VVGELIWNFA DFMTEQSPTR
610 620 630 640 650
VLGNKKGIFT RQRQPKSAAF LLRERYWKIA NETRYPHSVA KSQCLENSLF

T
Length:651
Mass (Da):74,732
Last modified:May 1, 2007 - v2
Checksum:i6BA7B1D935C9ABBD
GO
Isoform 2 (identifier: P08236-2) [UniParc]FASTAAdd to Basket

Also known as: Short

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

Show »
Length:600
Mass (Da):69,142
Checksum:i8101B66EA73520F8
GO
Isoform 3 (identifier: P08236-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-304: Missing.

Note: No experimental confirmation available.

Show »
Length:505
Mass (Da):58,345
Checksum:iDF74B0D5E57A9F70
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301P → S in MPS7.
VAR_058511
Natural varianti38 – 381C → G in MPS7; very mild phenotype. 1 Publication
VAR_037914
Natural varianti52 – 521S → F in MPS7; loss of activity. 1 Publication
VAR_037915
Natural varianti136 – 1361G → R in MPS7. 1 Publication
VAR_037916
Natural varianti148 – 1481P → S in MPS7. 1 Publication
VAR_037917
Natural varianti150 – 1501E → K in MPS7. 1 Publication
VAR_037918
Natural varianti152 – 1521D → G in MPS7.
VAR_058512
Natural varianti152 – 1521D → N Reduced activity levels without apparent pathogenic consequences. 2 Publications
Corresponds to variant rs149606212 [ dbSNP | Ensembl ].
VAR_037919
Natural varianti176 – 1761L → F in MPS7. 4 Publications
VAR_037920
Natural varianti216 – 2161R → W in MPS7. 2 Publications
VAR_003196
Natural varianti243 – 2431L → P in MPS7.
VAR_058513
Natural varianti320 – 3201Y → C in MPS7. 1 Publication
VAR_037921
Natural varianti320 – 3201Y → S in MPS7. 1 Publication
VAR_037922
Natural varianti339 – 3391N → S in MPS7.
VAR_058514
Natural varianti350 – 3501K → N in MPS7. 1 Publication
Corresponds to variant rs121918182 [ dbSNP | Ensembl ].
VAR_037923
Natural varianti351 – 3511H → Y in MPS7. 1 Publication
Corresponds to variant rs191153460 [ dbSNP | Ensembl ].
VAR_037924
Natural varianti354 – 3541A → V in MPS7. 1 Publication
VAR_003197
Natural varianti361 – 3699Missing in MPS7.
VAR_058515
Natural varianti362 – 3621D → N in MPS7.
VAR_058516
Natural varianti364 – 3641P → L in MPS7.
VAR_058517
Natural varianti374 – 3741R → C in MPS7. 1 Publication
VAR_037925
Natural varianti376 – 3761L → F.
Corresponds to variant rs11559283 [ dbSNP | Ensembl ].
VAR_055884
Natural varianti382 – 3821R → C in MPS7. 2 Publications
VAR_003198
Natural varianti382 – 3821R → H in MPS7. 1 Publication
VAR_037926
Natural varianti408 – 4081P → S in MPS7. 1 Publication
VAR_037927
Natural varianti415 – 4151P → L in MPS7. 1 Publication
VAR_037928
Natural varianti435 – 4351R → P in MPS7. 1 Publication
VAR_037929
Natural varianti477 – 4771R → W in MPS7. 1 Publication
VAR_037930
Natural varianti495 – 4951Y → C in MPS7. 1 Publication
VAR_037931
Natural varianti508 – 5081Y → C in MPS7. 1 Publication
VAR_037932
Natural varianti540 – 5401E → K in MPS7.
VAR_058518
Natural varianti572 – 5721G → D in MPS7. 1 Publication
VAR_037933
Natural varianti577 – 5771R → L in MPS7; loss of activity. 1 Publication
VAR_037934
Natural varianti606 – 6061K → N in MPS7. 1 Publication
VAR_037935
Natural varianti607 – 6071G → A in MPS7.
VAR_058519
Natural varianti611 – 6111R → W in MPS7. 1 Publication
VAR_003199
Natural varianti619 – 6191A → V in MPS7. 1 Publication
VAR_003200
Natural varianti626 – 6261Y → H in MPS7; very mild phenotype. 1 Publication
VAR_037936
Natural varianti627 – 6271W → C in MPS7. 2 Publications
VAR_003201
Natural varianti649 – 6491L → P.3 Publications
Corresponds to variant rs9530 [ dbSNP | Ensembl ].
VAR_016179

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei159 – 304146Missing in isoform 3. 1 PublicationVSP_054830Add
BLAST
Alternative sequencei305 – 35551Missing in isoform 2. CuratedVSP_001799Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M15182 mRNA. Translation: AAA52561.1.
AK303819 mRNA. Translation: BAG64768.1.
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.
CCDSiCCDS5530.1. [P08236-1]
CCDS64665.1. [P08236-3]
PIRiA26581.
RefSeqiNP_000172.2. NM_000181.3. [P08236-1]
NP_001271219.1. NM_001284290.1. [P08236-3]
NP_001280033.1. NM_001293104.1.
NP_001280034.1. NM_001293105.1.
XP_005250354.1. XM_005250297.2. [P08236-2]
UniGeneiHs.255230.

Genome annotation databases

EnsembliENST00000304895; ENSP00000302728; ENSG00000169919. [P08236-1]
ENST00000421103; ENSP00000391390; ENSG00000169919. [P08236-3]
GeneIDi2990.
KEGGihsa:2990.
UCSCiuc003tun.3. human. [P08236-1]

Polymorphism databases

DMDMi146345377.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M15182 mRNA. Translation: AAA52561.1 .
AK303819 mRNA. Translation: BAG64768.1 .
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 .
CCDSi CCDS5530.1. [P08236-1 ]
CCDS64665.1. [P08236-3 ]
PIRi A26581.
RefSeqi NP_000172.2. NM_000181.3. [P08236-1 ]
NP_001271219.1. NM_001284290.1. [P08236-3 ]
NP_001280033.1. NM_001293104.1.
NP_001280034.1. NM_001293105.1.
XP_005250354.1. XM_005250297.2. [P08236-2 ]
UniGenei Hs.255230.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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 [» ]
ProteinModelPortali P08236.
SMRi P08236. Positions 22-632.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109245. 8 interactions.
DIPi DIP-29724N.
IntActi P08236. 3 interactions.
MINTi MINT-4054501.
STRINGi 9606.ENSP00000302728.

Chemistry

ChEMBLi CHEMBL2728.

Protein family/group databases

CAZyi GH2. Glycoside Hydrolase Family 2.

PTM databases

PhosphoSitei P08236.

Polymorphism databases

DMDMi 146345377.

Proteomic databases

MaxQBi P08236.
PaxDbi P08236.
PRIDEi P08236.

Protocols and materials databases

DNASUi 2990.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000304895 ; ENSP00000302728 ; ENSG00000169919 . [P08236-1 ]
ENST00000421103 ; ENSP00000391390 ; ENSG00000169919 . [P08236-3 ]
GeneIDi 2990.
KEGGi hsa:2990.
UCSCi uc003tun.3. human. [P08236-1 ]

Organism-specific databases

CTDi 2990.
GeneCardsi GC07M065425.
H-InvDB HIX0057492.
HGNCi HGNC:4696. GUSB.
HPAi HPA036322.
MIMi 253220. phenotype.
611499. gene.
neXtProti NX_P08236.
Orphaneti 584. Mucopolysaccharidosis type 7.
PharmGKBi PA29075.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3250.
GeneTreei ENSGT00390000001752.
HOGENOMi HOG000120896.
HOVERGENi HBG004843.
InParanoidi P08236.
KOi K01195.
OMAi PSRECKE.
OrthoDBi EOG7288QR.
PhylomeDBi P08236.
TreeFami TF300685.

Enzyme and pathway databases

Reactomei REACT_120752. HS-GAG degradation.
REACT_120996. Hyaluronan uptake and degradation.

Miscellaneous databases

ChiTaRSi GUSB. human.
EvolutionaryTracei P08236.
GeneWikii GUSB.
GenomeRNAii 2990.
NextBioi 11852.
PROi P08236.
SOURCEi Search...

Gene expression databases

Bgeei P08236.
CleanExi HS_GUSB.
ExpressionAtlasi P08236. baseline and differential.
Genevestigatori P08236.

Family and domain databases

Gene3Di 2.60.120.260. 1 hit.
2.60.40.320. 1 hit.
3.20.20.80. 1 hit.
InterProi 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 ]
Pfami PF00703. Glyco_hydro_2. 1 hit.
PF02836. Glyco_hydro_2_C. 1 hit.
PF02837. Glyco_hydro_2_N. 1 hit.
[Graphical view ]
PRINTSi PR00132. GLHYDRLASE2.
SUPFAMi SSF49303. SSF49303. 1 hit.
SSF49785. SSF49785. 1 hit.
SSF51445. SSF51445. 1 hit.
PROSITEi PS00719. GLYCOSYL_HYDROL_F2_1. 1 hit.
PS00608. GLYCOSYL_HYDROL_F2_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-649, ALTERNATIVE SPLICING.
    Tissue: Placenta.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT PRO-649.
    Tissue: Lung.
  3. 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] (ISOFORM 1).
  4. "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].
  5. "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].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1).
    Tissue: Colon.
  8. "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.
  9. "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.
  10. "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.
  11. "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.
  12. "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.
  13. "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.
  14. "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.
  15. "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).
  16. "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.
  17. "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.
  18. "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.
  19. "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.
  20. "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.
  21. "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.
  22. "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.
  23. "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.
  24. "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.
  25. "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.
  26. "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.
  27. "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.
  28. "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.
  29. "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.

Entry informationi

Entry nameiBGLR_HUMAN
AccessioniPrimary (citable) accession number: P08236
Secondary accession number(s): B4E1F6
, E9PCV0, Q549U0, Q96CL9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: May 1, 2007
Last modified: November 26, 2014
This is version 163 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3