Gene/Proteome Database (LMPD)

LMPD ID
LMP002265
Gene ID
3073
Species
Homo sapiens (Human)
Gene Name
hexosaminidase A (alpha polypeptide)
Gene Symbol
HEXA
Synonyms
TSD
Alternate Names
beta-hexosaminidase subunit alpha; hexosaminidase subunit A; beta-N-acetylhexosaminidase subunit alpha; N-acetyl-beta-glucosaminidase subunit alpha
Chromosome
15
Map Location
15q24.1
EC Number
3.2.1.52
Summary
This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]
Orthologs
View orthologs and multiple alignments for HEXA

Proteins

beta-hexosaminidase subunit alpha preproprotein
Refseq ID NP_000511
Protein GI 189181666
UniProt ID P06865
mRNA ID NM_000520
Length 529
RefSeq Status REVIEWED
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT
sig_peptide: 1..22 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2342 peptide sequence: MTSSRLWFSLLLAAAFAGRATA mat_peptide: 89..529 product: beta-hexosaminidase subunit alpha calculated_mol_wt: 50566 peptide sequence: TLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT

Gene Information

Entrez Gene ID
3073
Gene Name
hexosaminidase A (alpha polypeptide)
Gene Symbol
HEXA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0043202 TAS:Reactome C lysosomal lumen
GO:0016020 IDA:UniProtKB C membrane
GO:0004563 IEA:UniProtKB-EC F beta-N-acetylhexosaminidase activity
GO:0046982 IDA:MGI F protein heterodimerization activity
GO:0005975 TAS:Reactome P carbohydrate metabolic process
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0030207 TAS:Reactome P chondroitin sulfate catabolic process
GO:0030204 TAS:Reactome P chondroitin sulfate metabolic process
GO:0030203 TAS:Reactome P glycosaminoglycan metabolic process
GO:0006687 TAS:Reactome P glycosphingolipid metabolic process
GO:0030214 TAS:Reactome P hyaluronan catabolic process
GO:0030212 TAS:Reactome P hyaluronan metabolic process
GO:0042340 TAS:Reactome P keratan sulfate catabolic process
GO:0042339 TAS:Reactome P keratan sulfate metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006665 TAS:Reactome P sphingolipid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04142 Lysosome

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_120888 CS/DS degradation
REACT_120996 Hyaluronan uptake and degradation
REACT_121313 Keratan sulfate degradation

Domain Information

InterPro Annotations

Accession Description
IPR029019 Beta-hexosaminidase, eukaryotic type, N-terminal
IPR025705 Beta_hexosaminidase_sua/sub
IPR029018 Chitobiase/beta-hexosaminidase domain 2-like
IPR015883 Glycoside hydrolase family 20, catalytic core
IPR017853 Glycoside hydrolase superfamily
IPR013781 Glycoside hydrolase, catalytic domain

UniProt Annotations

Entry Information

Gene Name
hexosaminidase A (alpha polypeptide)
Protein Entry
HEXA_HUMAN
UniProt ID
P06865
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P06865-1; Sequence=Displayed; Name=2; IsoId=P06865-2; Sequence=VSP_056657, VSP_056658, VSP_056659; Note=No experimental confirmation available.;
Catalytic Activity Hydrolysis of terminal non-reducing N-acetyl- D-hexosamine residues in N-acetyl-beta-D-hexosaminides.
Disease GM2-gangliosidosis 1 (GM2G1) [MIM
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. The form B is active against certain oligosaccharides. The form S has no measurable activity.
Interaction P00519:ABL1; NbExp=1; IntAct=EBI-723519, EBI-375543; P46108:CRK; NbExp=1; IntAct=EBI-723519, EBI-886; P06241:FYN; NbExp=1; IntAct=EBI-723519, EBI-515315;
Ptm N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2). {ECO
Similarity Belongs to the glycosyl hydrolase 20 family.
Subcellular Location Lysosome.
Subunit There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.
Web Resource Name=HEXAdb; Note=HEXA mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=HEXAdb";

Identical and Related Proteins

Unique RefSeq proteins for LMP002265 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
189181666 RefSeq NP_000511 529 beta-hexosaminidase subunit alpha preproprotein

Identical Sequences to LMP002265 proteins

Reference Database Accession Length Protein Name
GI:189181666 SwissProt P06865.2 529 RecName: Full=Beta-hexosaminidase subunit alpha; AltName: Full=Beta-N-acetylhexosaminidase subunit alpha; Short=Hexosaminidase subunit A; AltName: Full=N-acetyl-beta-glucosaminidase subunit alpha; Flags: Precursor [Homo sapiens]

Related Sequences to LMP002265 proteins

Reference Database Accession Length Protein Name
GI:189181666 GenBank AAB00965.1 529 beta-hexosaminidase alpha chain [Homo sapiens]
GI:189181666 GenBank AAD13932.1 529 lysosomal enzyme beta-N-acetylhexosaminidase A [Homo sapiens]
GI:189181666 GenBank AAH84537.1 529 Hexosaminidase A (alpha polypeptide) [Homo sapiens]
GI:189181666 GenBank EAW77902.1 529 hexosaminidase A (alpha polypeptide) [Homo sapiens]
GI:189181666 GenBank ABM83622.1 529 hexosaminidase A (alpha polypeptide) [synthetic construct]
GI:189181666 GenBank ABW03529.1 529 hexosaminidase A (alpha polypeptide), partial [synthetic construct]