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P49614

- HEXB_FELCA

UniProt

P49614 - HEXB_FELCA

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Protein

Beta-hexosaminidase subunit beta

Gene
HEXB
Organism
Felis catus (Cat) (Felis silvestris catus)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

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 activityi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei329 – 3291Proton donor By similarity

GO - Molecular functioni

  1. beta-N-acetylhexosaminidase activity Source: UniProtKB-EC

GO - Biological processi

  1. astrocyte cell migration Source: Ensembl
  2. cellular calcium ion homeostasis Source: Ensembl
  3. cellular protein metabolic process Source: Ensembl
  4. ganglioside catabolic process Source: Ensembl
  5. glycosaminoglycan metabolic process Source: Ensembl
  6. lipid storage Source: Ensembl
  7. locomotory behavior Source: Ensembl
  8. lysosome organization Source: Ensembl
  9. male courtship behavior Source: Ensembl
  10. myelination Source: Ensembl
  11. neuromuscular process controlling balance Source: Ensembl
  12. oligosaccharide catabolic process Source: Ensembl
  13. oogenesis Source: Ensembl
  14. penetration of zona pellucida Source: Ensembl
  15. phospholipid biosynthetic process Source: Ensembl
  16. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  17. regulation of cell shape Source: Ensembl
  18. sensory perception of sound Source: Ensembl
  19. skeletal system development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Protein family/group databases

CAZyiGH20. Glycoside Hydrolase Family 20.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:HEXB
OrganismiFelis catus (Cat) (Felis silvestris catus)
Taxonomic identifieri9685 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaLaurasiatheriaCarnivoraFeliformiaFelidaeFelinaeFelis
ProteomesiUP000011712: Unplaced

Subcellular locationi

GO - Cellular componenti

  1. acrosomal vesicle Source: Ensembl
  2. lysosome Source: UniProtKB-SubCell
  3. membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424 Reviewed predictionAdd
BLAST
Chaini25 – 531507Beta-hexosaminidase subunit betaPRO_0000012001Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi50 – 501N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi65 ↔ 111 By similarity
Glycosylationi116 – 1161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi164 – 1641N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi283 ↔ 334 By similarity
Glycosylationi301 – 3011N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi508 ↔ 525 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Structurei

3D structure databases

ProteinModelPortaliP49614.
SMRiP49614. Positions 29-526.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3525.
HOVERGENiHBG005961.
KOiK12373.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
3.30.379.10. 1 hit.
InterProiIPR025705. 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]
PfamiPF00728. Glyco_hydro_20. 1 hit.
PF14845. Glycohydro_20b2. 1 hit.
[Graphical view]
PIRSFiPIRSF001093. B-hxosamndse_ab_euk_. 1 hit.
PRINTSiPR00738. GLHYDRLASE20.
SUPFAMiSSF51445. SSF51445. 1 hit.
SSF55545. SSF55545. 1 hit.

Sequencei

Sequence statusi: Complete.

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

P49614-1 [UniParc]FASTAAdd to Basket

« Hide

MRHRGLGLAA LLALLAAVAP RSSAAAGAAL WPMPLSVKTS PRLLHLSRDN    50
FSIGYGPSST AGPTCSLLQE AFRRYHEYIF GFDKRQRRPA KPNSAIELQQ 100
LLVTVVLDSE CDLFPNITSD ESYTLLVKEP VAFLKANRVW GVLRGLETFS 150
QLIYQDSYGT FTVNESDIID SPRFPHRGIL IDTARHFLPV KSILKTLDAM 200
AFNKFNVLHW HIVDDQSFPY QSVTFPELSN KGSYSLSHVY TPNDVHTVIE 250
YARLRGIRVI PEFDSPGHTQ SWGKGQKDLL TPCYNEHKQS GTFGPINPIL 300
NSTYNFLSQF FKEVSMVFPD HFVHLGGDEV EFQCWESNPE IQGFMKQKGF 350
GKDFRRLESF YLQKLLGIVS TVKKGSIVWQ EVFDDHVKLL PGTIVQVWKN 400
QVYTEELREV TAAGFPVILS APWYLDWISY GQDWRNYYKV DPLHFDGSQE 450
QKKLVIGGEA CLWGEFVDAT NLTPRLWPRA SAVGERLWSP EDITSVGNAY 500
NRLTVHRCRM VRRGISAEPL FTGYCDYEYK T 531
Length:531
Mass (Da):60,427
Last modified:May 10, 2005 - v2
Checksum:iAC6E0C8C6509509B
GO

Sequence cautioni

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

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S70340 mRNA. Translation: AAB30707.2. Frameshift.
RefSeqiNP_001009333.2. NM_001009333.2.

Genome annotation databases

GeneIDi493928.
KEGGifca:493928.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S70340 mRNA. Translation: AAB30707.2 . Frameshift.
RefSeqi NP_001009333.2. NM_001009333.2.

3D structure databases

ProteinModelPortali P49614.
SMRi P49614. Positions 29-526.
ModBasei Search...
MobiDBi Search...

Protein family/group databases

CAZyi GH20. Glycoside Hydrolase Family 20.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 493928.
KEGGi fca:493928.

Organism-specific databases

CTDi 3074.

Phylogenomic databases

eggNOGi COG3525.
HOVERGENi HBG005961.
KOi K12373.

Family and domain databases

Gene3Di 3.20.20.80. 1 hit.
3.30.379.10. 1 hit.
InterProi IPR025705. 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 ]
Pfami PF00728. Glyco_hydro_20. 1 hit.
PF14845. Glycohydro_20b2. 1 hit.
[Graphical view ]
PIRSFi PIRSF001093. B-hxosamndse_ab_euk_. 1 hit.
PRINTSi PR00738. GLHYDRLASE20.
SUPFAMi SSF51445. SSF51445. 1 hit.
SSF55545. SSF55545. 1 hit.
ProtoNeti Search...

Publicationsi

  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.

Entry informationi

Entry nameiHEXB_FELCA
AccessioniPrimary (citable) accession number: P49614
Entry historyi
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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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