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HEXB

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GENERAL INFORMATION

Gene name

 HEXB

Gene description

 Hexosaminidase B (beta polypeptide)

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Mixed

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 HEXB

Synonyms

Description

 Hexosaminidase B (beta polypeptide) (HGNC Symbol)

Entrez gene summary

 Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Chromosome

 5

Cytoband

 q13.3

Chromosome location (bp)

 74640023 - 74722647

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000049860 (version 83.38)

Entrez gene

 3074

UniProt

 P07686 (UniProt - Evidence at protein level)

neXtProt

 NX_P07686

Antibodypedia

 HEXB antibodies

PROTEIN BROWSER
HEXB-001
HEXB-002
HEXB-007
HEXB-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HEXB-001
ENSP00000261416
ENST00000261416
P07686 [Direct mapping]
Beta-hexosaminidase subunit beta Beta-hexosaminidase subunit beta chain B Beta-hexosaminidase subunit beta chain A
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Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001669 [acrosomal vesicle]
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0004563 [beta-N-acetylhexosaminidase activity]
GO:0005764 [lysosome]
GO:0005975 [carbohydrate metabolic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0006689 [ganglioside catabolic process]
GO:0006874 [cellular calcium ion homeostasis]
GO:0007040 [lysosome organization]
GO:0007338 [single fertilization]
GO:0007341 [penetration of zona pellucida]
GO:0007605 [sensory perception of sound]
GO:0007626 [locomotory behavior]
GO:0008049 [male courtship behavior]
GO:0008360 [regulation of cell shape]
GO:0008375 [acetylglucosaminyltransferase activity]
GO:0008654 [phospholipid biosynthetic process]
GO:0009313 [oligosaccharide catabolic process]
GO:0016020 [membrane]
GO:0019915 [lipid storage]
GO:0019953 [sexual reproduction]
GO:0030203 [glycosaminoglycan metabolic process]
GO:0030204 [chondroitin sulfate metabolic process]
GO:0030207 [chondroitin sulfate catabolic process]
GO:0030212 [hyaluronan metabolic process]
GO:0030214 [hyaluronan catabolic process]
GO:0031323 [regulation of cellular metabolic process]
GO:0042339 [keratan sulfate metabolic process]
GO:0042340 [keratan sulfate catabolic process]
GO:0042552 [myelination]
GO:0042582 [azurophil granule]
GO:0042803 [protein homodimerization activity]
GO:0043202 [lysosomal lumen]
GO:0043615 [astrocyte cell migration]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046982 [protein heterodimerization activity]
GO:0048477 [oogenesis]
GO:0050885 [neuromuscular process controlling balance]
GO:0050905 [neuromuscular process]
GO:0070062 [extracellular exosome]
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 556 aa
63.1 kDa 		Yes 0
HEXB-002
ENSP00000426285
ENST00000511181
Q5URX0 [Direct mapping]
Beta-hexosaminidase subunit beta; ENC-1AS; Epididymis luminal protein 248
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
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 331 aa
38.3 kDa 		No 0
HEXB-007
ENSP00000423713
ENST00000513336
H0Y9B6 [Direct mapping]
Beta-hexosaminidase subunit beta
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 202 aa
23.1 kDa 		No 0
HEXB-009
ENSP00000424939
ENST00000509579
D6REQ8 [Direct mapping]
Beta-hexosaminidase subunit beta
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005975 [carbohydrate metabolic process]
Show all
 35 aa
4.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.