GUSB

Protein identityUniProt · HPA

UniProt accession

P08236

Gene

GUSB

Ensembl

ENSG00000169919

Chromosome

7

Canonical length

651 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles

Secretome location

Intracellular and membrane

Quaternary structure

Homotetramer

OverviewNCBI Gene

This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

651 residues, UniProt reviewed canonical sequence.

>P08236|GUSB
     1  MARGSAVAWA ALGPLLWGCA LGLQGGMLYP QESPSRECKE LDGLWSFRAD FSDNRRRGFE
    61  EQWYRRPLWE SGPTVDMPVP SSFNDISQDW RLRHFVGWVW YEREVILPER WTQDLRTRVV
   121  LRIGSAHSYA IVWVNGVDTL EHEGGYLPFE ADISNLVQVG PLPSRLRITI AINNTLTPTT
   181  LPPGTIQYLT DTSKYPKGYF VQNTYFDFFN YAGLQRSVLL YTTPTTYIDD ITVTTSVEQD
   241  SGLVNYQISV KGSNLFKLEV RLLDAENKVV ANGTGTQGQL KVPGVSLWWP YLMHERPAYL
   301  YSLEVQLTAQ TSLGPVSDFY TLPVGIRTVA VTKSQFLING KPFYFHGVNK HEDADIRGKG
   361  FDWPLLVKDF NLLRWLGANA FRTSHYPYAE EVMQMCDRYG IVVIDECPGV GLALPQFFNN
   421  VSLHHHMQVM EEVVRRDKNH PAVVMWSVAN EPASHLESAG YYLKMVIAHT KSLDPSRPVT
   481  FVSNSNYAAD KGAPYVDVIC LNSYYSWYHD YGHLELIQLQ LATQFENWYK KYQKPIIQSE
   541  YGAETIAGFH QDPPLMFTEE YQKSLLEQYH LGLDQKRRKY VVGELIWNFA DFMTEQSPTR
   601  VLGNKKGIFT RQRQPKSAAF LLRERYWKIA NETRYPHSVA KSQCLENSLF T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GUSB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

97 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GUSB.

Disease | AllUniProt

Conditions GUSB is implicated in, by any mechanism.

• Mucopolysaccharidosis 7 (MPS7) MIM:253220

Disease | GeneticClinVar

107 pathogenic / likely-pathogenic of 763 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mucopolysaccharidosis type 7
• GUSB-related disorder
• Non-immune hydrops fetalis
• Mucopolysaccharidosis type 6
• Uterine corpus endometrial carcinoma

ReferencesPubMed · IEDB

Publications for GUSB from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.75

gnomAD pLI

0

gnomAD missense Z

1.1

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aorta development
• articular cartilage development
• autophagy
• bone resorption
• carbohydrate metabolic process
• cell population proliferation
• chondrocyte hypertrophy
• chondroitin sulfate proteoglycan catabolic process
• cranial skeletal system development
• endochondral ossification
• energy homeostasis
• gene expression
• glycosaminoglycan catabolic process
• growth plate cartilage morphogenesis
• heparan sulfate proteoglycan catabolic process
• homeostasis of number of cells
• hyaluronan catabolic process
• in utero embryonic development
• inflammatory response
• lysosome organization
• multicellular organism growth
• muscle system process
• phosphatidylinositol-3-phosphate biosynthetic process
• protein localization to nucleus
• protein secretion
• response to peptide hormone
• retinoid metabolic process
• TORC1 signaling

Molecular functions

• beta-glucuronidase activity
• carbohydrate binding
• protein domain specific binding
• signaling receptor binding

Cellular components

• azurophil granule lumen
• endoplasmic reticulum
• extracellular exosome
• extracellular region
• extracellular space
• ficolin-1-rich granule lumen
• lysosomal lumen
• membrane

Protein domainsUniProt · Pfam · InterPro

• Glycoside hydrolase family 2, catalytic domain
• Glycosyl hydrolases family 2, sugar binding domain
• Galactose-binding-like domain superfamily
• Immunoglobulin-like fold
• Glycoside hydrolase superfamily
• Beta-Galactosidase/glucuronidase domain superfamily
• Glycosyl hydrolases family 2, TIM barrel domain
• Glycosyl hydrolases family 2, sugar binding domain
• Glycoside hydrolase, family 2
• Glycoside hydrolase family 2, immunoglobulin-like beta-sandwich
• Glycoside hydrolase, family 2, conserved site
• Glycoside hydrolase, family 2, active site
• Glycosyl hydrolases family 2

KeywordsUniProt

• Glycoprotein
• Glycosidase
• Hydrolase
• Lysosome
• Mucopolysaccharidosis
• Signal