P49614 (HEXB_FELCA) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

HEXB

Organism

Felis catus (Cat) (Felis silvestris catus)

Taxonomic identifier

9685 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Laurasiatheria › Carnivora › Feliformia › Felidae › Felinae › Felis

Protein attributes

Sequence length	531 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Note=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 component	Lysosome
Domain	Signal
Molecular function	Glycosidase Hydrolase
PTM	Disulfide bond Glycoprotein
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	beta-N-acetylhexosaminidase activity Inferred from electronic annotation. Source: EC cation binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – 531	507	Beta-hexosaminidase subunit beta		PRO_0000012001
Sites
	Active site	329	1	Proton donor By similarity
Amino acid modifications
	Glycosylation	50	1	N-linked (GlcNAc...) Potential
	Glycosylation	116	1	N-linked (GlcNAc...) Potential
	Glycosylation	164	1	N-linked (GlcNAc...) Potential
	Glycosylation	301	1	N-linked (GlcNAc...) Potential
	Disulfide bond	65 ↔ 111		By similarity
	Disulfide bond	283 ↔ 334		By similarity
	Disulfide bond	508 ↔ 525		By similarity

Sequences

	Sequence		Length	Mass (Da)
	P49614 [UniParc]. Last modified May 10, 2005. Version 2. Checksum: AC6E0C8C6509509B	FASTA	531	60,427
	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

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: 8178934] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: Korat. Tissue: Liver.

Cross-references

Sequence databases
EMBL GenBank DDBJ	S70340 mRNA. Translation: AAB30707.2. Frameshift.
RefSeq	NP_001009333.2. NM_001009333.2.
3D structure databases
ProteinModelPortal	P49614.
SMR	P49614. Positions 29-526.
ModBase	Search...
Protein family/group databases
CAZy	GH20. Glycoside Hydrolase Family 20.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	493928.
Organism-specific databases
CTD	3074.
Phylogenomic databases
HOVERGEN	HBG005961.
Family and domain databases
InterPro	IPR015882. Acetylhexosaminidase_sua/b. IPR001540. Glyco_hydro_20. IPR015883. Glyco_hydro_20_cat-core. IPR013781. Glyco_hydro_subgr_catalytic. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
Gene3D	G3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.
Pfam	PF00728. Glyco_hydro_20. 1 hit. PF02838. Glyco_hydro_20b. 1 hit. [Graphical view]
PRINTS	PR00738. GLHYDRLASE20.
SUPFAM	SSF51445. Glyco_hydro_cat. 1 hit.
ProtoNet	Search...

Entry information

Entry name

HEXB_FELCA

Accession

Primary (citable) accession number: P49614

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	May 10, 2005
Last modified:	June 28, 2011
This is version 74 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program