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P49614 (HEXB_FELCA) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-hexosaminidase subunit beta

EC=3.2.1.52
Alternative name(s):
Beta-N-acetylhexosaminidase subunit beta
Short name=Hexosaminidase subunit B
N-acetyl-beta-glucosaminidase subunit beta
Gene names
Name:HEXB
OrganismFelis catus (Cat) (Felis silvestris catus) [Reference proteome]
Taxonomic identifier9685 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaCarnivoraFeliformiaFelidaeFelinaeFelis

Protein attributes

Sequence length531 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.

Catalytic activity

Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.

Subcellular location

Lysosome.

Involvement in disease

Defects in HEXB are responsible for Sandhoff disease (GM2-gangliosidosis type-II). This disorder is found in Korat cats (initially imported from Thailand).

Sequence similarities

Belongs to the glycosyl hydrolase 20 family.

Sequence caution

The sequence AAB30707.2 differs from that shown. Reason: Frameshift at position 27.

Ontologies

Keywords
   Cellular componentLysosome
   DomainSignal
   Molecular functionGlycosidase
Hydrolase
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processastrocyte cell migration

Inferred from electronic annotation. Source: Ensembl

cellular calcium ion homeostasis

Inferred from electronic annotation. Source: Ensembl

cellular protein metabolic process

Inferred from electronic annotation. Source: Ensembl

ganglioside catabolic process

Inferred from electronic annotation. Source: Ensembl

glycosaminoglycan metabolic process

Inferred from electronic annotation. Source: Ensembl

lipid storage

Inferred from electronic annotation. Source: Ensembl

locomotory behavior

Inferred from electronic annotation. Source: Ensembl

lysosome organization

Inferred from electronic annotation. Source: Ensembl

male courtship behavior

Inferred from electronic annotation. Source: Ensembl

myelination

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling balance

Inferred from electronic annotation. Source: Ensembl

oligosaccharide catabolic process

Inferred from electronic annotation. Source: Ensembl

oogenesis

Inferred from electronic annotation. Source: Ensembl

penetration of zona pellucida

Inferred from electronic annotation. Source: Ensembl

phospholipid biosynthetic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

regulation of cell shape

Inferred from electronic annotation. Source: Ensembl

sensory perception of sound

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentacrosomal vesicle

Inferred from electronic annotation. Source: Ensembl

lysosome

Inferred from electronic annotation. Source: UniProtKB-SubCell

membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionbeta-N-acetylhexosaminidase activity

Inferred from electronic annotation. Source: UniProtKB-EC

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 531507Beta-hexosaminidase subunit beta
PRO_0000012001

Sites

Active site3291Proton donor By similarity

Amino acid modifications

Glycosylation501N-linked (GlcNAc...) Potential
Glycosylation1161N-linked (GlcNAc...) Potential
Glycosylation1641N-linked (GlcNAc...) Potential
Glycosylation3011N-linked (GlcNAc...) Potential
Disulfide bond65 ↔ 111 By similarity
Disulfide bond283 ↔ 334 By similarity
Disulfide bond508 ↔ 525 By similarity

Sequences

Sequence LengthMass (Da)Tools
P49614 [UniParc].

Last modified May 10, 2005. Version 2.
Checksum: AC6E0C8C6509509B

FASTA53160,427
        10         20         30         40         50         60 
MRHRGLGLAA LLALLAAVAP RSSAAAGAAL WPMPLSVKTS PRLLHLSRDN FSIGYGPSST 

        70         80         90        100        110        120 
AGPTCSLLQE AFRRYHEYIF GFDKRQRRPA KPNSAIELQQ LLVTVVLDSE CDLFPNITSD 

       130        140        150        160        170        180 
ESYTLLVKEP VAFLKANRVW GVLRGLETFS QLIYQDSYGT FTVNESDIID SPRFPHRGIL 

       190        200        210        220        230        240 
IDTARHFLPV KSILKTLDAM AFNKFNVLHW HIVDDQSFPY QSVTFPELSN KGSYSLSHVY 

       250        260        270        280        290        300 
TPNDVHTVIE YARLRGIRVI PEFDSPGHTQ SWGKGQKDLL TPCYNEHKQS GTFGPINPIL 

       310        320        330        340        350        360 
NSTYNFLSQF FKEVSMVFPD HFVHLGGDEV EFQCWESNPE IQGFMKQKGF GKDFRRLESF 

       370        380        390        400        410        420 
YLQKLLGIVS TVKKGSIVWQ EVFDDHVKLL PGTIVQVWKN QVYTEELREV TAAGFPVILS 

       430        440        450        460        470        480 
APWYLDWISY GQDWRNYYKV DPLHFDGSQE QKKLVIGGEA CLWGEFVDAT NLTPRLWPRA 

       490        500        510        520        530 
SAVGERLWSP EDITSVGNAY NRLTVHRCRM VRRGISAEPL FTGYCDYEYK T 

« Hide

References

[1]"Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease)."
Muldoon L.L., Neuwelt E.A., Pagel M.A., Weiss D.L.
Am. J. Pathol. 144:1109-1118(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Strain: Korat.
Tissue: Liver.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S70340 mRNA. Translation: AAB30707.2. Frameshift.
RefSeqNP_001009333.2. NM_001009333.2.

3D structure databases

ProteinModelPortalP49614.
SMRP49614. Positions 29-526.
ModBaseSearch...
MobiDBSearch...

Protein family/group databases

CAZyGH20. Glycoside Hydrolase Family 20.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID493928.
KEGGfca:493928.

Organism-specific databases

CTD3074.

Phylogenomic databases

eggNOGCOG3525.
HOVERGENHBG005961.
KOK12373.

Family and domain databases

Gene3D3.20.20.80. 1 hit.
3.30.379.10. 1 hit.
InterProIPR025705. Beta_hexosaminidase_sua/sub.
IPR029018. Chitobiase/Hex_dom_2-like.
IPR015883. Glyco_hydro_20_cat-core.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR029019. HEX_eukaryotic_N.
[Graphical view]
PfamPF00728. Glyco_hydro_20. 1 hit.
PF14845. Glycohydro_20b2. 1 hit.
[Graphical view]
PIRSFPIRSF001093. B-hxosamndse_ab_euk_. 1 hit.
PRINTSPR00738. GLHYDRLASE20.
SUPFAMSSF51445. SSF51445. 1 hit.
SSF55545. SSF55545. 1 hit.
ProtoNetSearch...

Entry information

Entry nameHEXB_FELCA
AccessionPrimary (citable) accession number: P49614
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: May 10, 2005
Last modified: June 11, 2014
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries