P06865

- HEXA_HUMAN

UniProt

P06865 - HEXA_HUMAN

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Protein

Beta-hexosaminidase subunit alpha

Gene

HEXA

Organism

Homo sapiens (Human)

Status

Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein levelⁱ

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History
Entry version 178 (07 Jan 2015)
Sequence version 2 (02 Nov 2010)
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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. The form B is active against certain oligosaccharides. The form S has no measurable activity.

Catalytic activityⁱ

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

Sites

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Active siteⁱ	323 – 323	1	Proton donorBy similarity

Enzyme and pathway databases

BioCycⁱ	MetaCyc:ENSG00000140495-MONOMER.
Reactomeⁱ	REACT_116105. Glycosphingolipid metabolism. REACT_120888. CS/DS degradation. REACT_120996. Hyaluronan uptake and degradation. REACT_121313. Keratan sulfate degradation.
SABIO-RK	P06865.

Protein family/group databases

CAZyⁱ	GH20. Glycoside Hydrolase Family 20.

CAZyⁱ

GH20. Glycoside Hydrolase Family 20.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Beta-hexosaminidase subunit alpha (EC:3.2.1.52) Alternative name(s): Beta-N-acetylhexosaminidase subunit alpha Short name: Hexosaminidase subunit A N-acetyl-beta-glucosaminidase subunit alpha
Gene namesⁱ	Name:HEXA
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640: Chromosome 15

Organism-specific databases

HGNCⁱ	HGNC:4878. HEXA.

HGNCⁱ

HGNC:4878. HEXA.

Subcellular locationⁱ

Lysosome

GO - Cellular componentⁱ

extracellular vesicular exosome
Source: UniProtKB
Inferred from direct assayⁱ
- 23376485
- 23533145
lysosomal lumen Source: Reactome
membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 19946888

Complete GO annotation...

Keywords - Cellular componentⁱ

Lysosome

Pathology & Biotechⁱ

Involvement in diseaseⁱ

GM2-gangliosidosis 1 (GM2G1)

[MIM:272800]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. It exists in several forms: infantile (most common and most severe), juvenile and adult (late-onset).22 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	25 – 25	1	P → S in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.30 "Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene." Harmon D.L., Gardner-Medwin D., Stirling J.L. J. Med. Genet. 30:123-128(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 SER-25.	VAR_003202
Natural variantⁱ	39 – 39	1	L → R in GM2G1; infantile.	VAR_003203
Natural variantⁱ	127 – 127	1	L → F in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022439
Natural variantⁱ	127 – 127	1	L → R in GM2G1; infantile.	VAR_003204
Natural variantⁱ	166 – 166	1	R → G in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.34 "GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A." Peleg L., Meltzer F., Karpati M., Goldman B. Biochem. Mol. Med. 54:126-132(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 GLY-166.	VAR_003205
Natural variantⁱ	170 – 170	1	R → Q in GM2G1; infantile; inactive or unstable protein. 1 Publication Manual assertion based on experiment inⁱ Ref.38 "Tay-Sachs disease and HEXA mutations among Moroccan Jews." Kaufman M., Grinshpun-Cohen J., Karpati M., Peleg L., Goldman B., Akstein E., Adam A., Navon R. Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482.	VAR_003206
Natural variantⁱ	170 – 170	1	R → W in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation." Fernandes M., Kaplan F., Natowicz M., Prence E., Kolodny E., Kaback M., Hechtman P. Hum. Mol. Genet. 1:759-761(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TRP-170 AND HIS-258.	VAR_003207
Natural variantⁱ	178 – 178	1	R → C in GM2G1; infantile; inactive protein.	VAR_003208
Natural variantⁱ	178 – 178	1	R → H in GM2G1; infantile; inactive protein.	VAR_003209
Natural variantⁱ	178 – 178	1	R → L in GM2G1; infantile. Corresponds to variant rs28941770 [ dbSNP \| Ensembl ].	VAR_003210
Natural variantⁱ	180 – 180	1	Y → H in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.36 "Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene." de Gasperi R., Gama Sosa M.A., Battistini S., Yeretsian J., Raghavan S., Zelnik N., Leshinsky E., Kolodny E.H. Neurology 47:547-552(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 HIS-180. Corresponds to variant rs28941771 [ dbSNP \| Ensembl ].	VAR_003211
Natural variantⁱ	192 – 192	1	V → L in GM2G1; infantile.	VAR_003212
Natural variantⁱ	196 – 196	1	N → S in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.33 "Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England." Triggs-Raine B.L., Richard M., Wasel N., Prence E.M., Natowicz M.R. Am. J. Hum. Genet. 56:870-879(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 SER-196 AND SER-250.	VAR_003213
Natural variantⁱ	197 – 197	1	K → T in GM2G1.	VAR_003214
Natural variantⁱ	200 – 200	1	V → M in GM2G1. Corresponds to variant rs1800429 [ dbSNP \| Ensembl ].	VAR_003215
Natural variantⁱ	204 – 204	1	H → R in GM2G1; infantile.	VAR_003216
Natural variantⁱ	210 – 210	1	S → F in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.22 "Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments." Akli S., Lacorte J.-M., Poenaru L., Khan A. Genomics 11:124-134(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-210 AND CYS-504.	VAR_003217
Natural variantⁱ	211 – 211	1	F → S in GM2G1; infantile.	VAR_003218
Natural variantⁱ	226 – 226	1	S → F in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022440
Natural variantⁱ	250 – 250	1	G → D in GM2G1; juvenile. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family." Trop I., Kaplan F., Brown C., Mahuran D., Hechtman P. Hum. Mutat. 1:35-39(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 ASP-250.	VAR_003221
Natural variantⁱ	250 – 250	1	G → S in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.33 "Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England." Triggs-Raine B.L., Richard M., Wasel N., Prence E.M., Natowicz M.R. Am. J. Hum. Genet. 56:870-879(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 SER-196 AND SER-250.	VAR_003222
Natural variantⁱ	252 – 252	1	R → H in GM2G1.	VAR_003223
Natural variantⁱ	252 – 252	1	R → L in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_017188
Natural variantⁱ	258 – 258	1	D → H in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation." Fernandes M., Kaplan F., Natowicz M., Prence E., Kolodny E., Kaback M., Hechtman P. Hum. Mol. Genet. 1:759-761(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TRP-170 AND HIS-258.	VAR_003224
Natural variantⁱ	269 – 269	1	G → D in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022441
Natural variantⁱ	269 – 269	1	G → S in GM2G1; late onset; inhibited subunit dissociation. 1 Publication Manual assertion based on experiment inⁱ Ref.20 "The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease." Navon R., Proia R.L. Science 243:1471-1474(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 SER-269.	VAR_003225
Natural variantⁱ	279 – 279	1	S → P in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.40 "Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease." Drucker L., Hemli J.A., Navon R. Hum. Mutat. 10:451-457(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 PRO-279.	VAR_003226
Natural variantⁱ	295 – 295	1	N → S in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499. Corresponds to variant rs199578185 [ dbSNP \| Ensembl ].	VAR_017189
Natural variantⁱ	301 – 301	1	M → R in GM2G1; infantile.	VAR_003227
Natural variantⁱ	304 – 304	1	Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication Manual assertion based on experiment inⁱ Ref.38 "Tay-Sachs disease and HEXA mutations among Moroccan Jews." Kaufman M., Grinshpun-Cohen J., Karpati M., Peleg L., Goldman B., Akstein E., Adam A., Navon R. Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482.	VAR_003228
Natural variantⁱ	314 – 314	1	D → V in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022442
Natural variantⁱ	320 – 320	1	Missing in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.23 "Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals." Mules E.H., Hayflick S., Miller C.S., Reynolds L.W., Thomas G.H. Am. J. Hum. Genet. 50:834-841(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 GLY-320 DEL, VARIANTS ASP-399 AND VAL-436.	VAR_003229
Natural variantⁱ	335 – 335	1	I → F in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.31 "Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease." Tomczak J., Grebner E.E. Hum. Mutat. 4:71-72(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-335 AND 347-ASP--GLU-352 DEL.	VAR_003230
Natural variantⁱ	347 – 352	6	Missing in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.31 "Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease." Tomczak J., Grebner E.E. Hum. Mutat. 4:71-72(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-335 AND 347-ASP--GLU-352 DEL.	VAR_003231
Natural variantⁱ	391 – 391	1	V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication Manual assertion based on experiment inⁱ Ref.35 "A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype." Navon R., Khosravi R., Korczyn T., Masson M., Sonnino S., Fardeau M., Eymard B., Lefevre N., Turpin J.C., Rondot P. Neurology 45:539-543(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 MET-391.	VAR_003232
Natural variantⁱ	420 – 420	1	W → C in GM2G1; infantile; inactive protein. 2 Publications Manual assertion based on experiment inⁱ Ref.21 "A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)." Tanaka A., Punnett H.H., Suzuki K. Am. J. Hum. Genet. 47:568-574(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 CYS-420. Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_003234
Natural variantⁱ	454 – 454	1	G → S in GM2G1; infantile.	VAR_003236
Natural variantⁱ	455 – 455	1	G → R in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.39 "Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients." Ribeiro M.G., Pinto R.A., Suzuki K., Sa Miranda M.C. Hum. Mutat. 10:359-360(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 ARG-455.	VAR_003237
Natural variantⁱ	458 – 458	1	C → Y in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.32 "Molecular genetics of Tay-Sachs disease in Japan." Tanaka A., Sakazaki H., Murakami H., Isshiki G., Suzuki K. J. Inherit. Metab. Dis. 17:593-600(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TYR-458 AND GLN-484.	VAR_003238
Natural variantⁱ	474 – 474	1	W → C in GM2G1; subacute. 1 Publication Manual assertion based on experiment inⁱ Ref.41 "W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis." Petroulakis E., Cao Z., Clarke J.T.R., Mahuran D.J., Lee G., Triggs-Raine B. Hum. Mutat. 11:432-442(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 CYS-474.	VAR_003239
Natural variantⁱ	482 – 482	1	E → K in GM2G1; infantile. 2 Publications Manual assertion based on experiment inⁱ Ref.19 "A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant." Nakano T., Muscillo M., Ohno K., Hoffman A.J., Suzuki K. J. Neurochem. 51:984-987(1988) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 LYS-482. Ref.38 "Tay-Sachs disease and HEXA mutations among Moroccan Jews." Kaufman M., Grinshpun-Cohen J., Karpati M., Peleg L., Goldman B., Akstein E., Adam A., Navon R. Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482.	VAR_003240
Natural variantⁱ	484 – 484	1	L → Q in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.32 "Molecular genetics of Tay-Sachs disease in Japan." Tanaka A., Sakazaki H., Murakami H., Isshiki G., Suzuki K. J. Inherit. Metab. Dis. 17:593-600(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TYR-458 AND GLN-484.	VAR_003241
Natural variantⁱ	485 – 485	1	W → R in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "Novel Tay-Sachs disease mutations from China." Akalin N., Shi H.-P., Vavougios G., Hechtman P., Lo W., Scriver C.R., Mahuran D., Kaplan F. Hum. Mutat. 1:40-46(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 ARG-485.	VAR_003242
Natural variantⁱ	499 – 499	1	R → C in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_003243
Natural variantⁱ	499 – 499	1	R → H in GM2G1; juvenile. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_003244
Natural variantⁱ	504 – 504	1	R → C in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.22 "Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments." Akli S., Lacorte J.-M., Poenaru L., Khan A. Genomics 11:124-134(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-210 AND CYS-504. Corresponds to variant rs28942071 [ dbSNP \| Ensembl ].	VAR_003245
Natural variantⁱ	504 – 504	1	R → H in GM2G1; juvenile; inhibited subunit dissociation.	VAR_003246

Mutagenesis

Feature key	Position(s)	Length	Description
Mutagenesisⁱ	115 – 115	1	N → Q: No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-157 and Q-295. 1 Publication Manual assertion based on experiment inⁱ Ref.12 "Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis." Weitz G., Proia R.L. J. Biol. Chem. 267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295.
Mutagenesisⁱ	157 – 157	1	N → Q: No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-295. 1 Publication Manual assertion based on experiment inⁱ Ref.12 "Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis." Weitz G., Proia R.L. J. Biol. Chem. 267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295.
Mutagenesisⁱ	295 – 295	1	N → Q: No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-157. 1 Publication Manual assertion based on experiment inⁱ Ref.12 "Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis." Weitz G., Proia R.L. J. Biol. Chem. 267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295.

Keywords - Diseaseⁱ

Disease mutation, Gangliosidosis, Neurodegeneration

Organism-specific databases

MIMⁱ	272800. phenotype.
Orphanetⁱ	309192. Tay-Sachs disease, B variant, adult form. 309178. Tay-Sachs disease, B variant, infantile form. 309185. Tay-Sachs disease, B variant, juvenile form. 309239. Tay-Sachs disease, B1 variant.
PharmGKBⁱ	PA29256.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Feature identifier	Actions
Signal peptideⁱ	1 – 22	22	1 Publication Manual assertion based on experiment inⁱ Ref.2 "Organization of the gene encoding the human beta-hexosaminidase alpha-chain." Proia R.L., Soravia E. J. Biol. Chem. 262:5677-5681(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-436.		Add BLAST
Propeptideⁱ	23 – 88	66	1 Publication Manual assertion based on experiment inⁱ Ref.10 "Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits." Mahuran D.J., Neote K., Klavins M.H., Leung A., Gravel R.A. J. Biol. Chem. 263:4612-4618(1988) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 89-99.	PRO_0000011993	Add BLAST
Chainⁱ	89 – 529	441	Beta-hexosaminidase subunit alpha	PRO_0000011994	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description
Disulfide bondⁱ	58 ↔ 104		1 Publication Manual assertion based on experiment inⁱ Ref.18 "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis." Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N. J. Mol. Biol. 359:913-929(2006) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB, GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, DISULFIDE BONDS.
Glycosylationⁱ	115 – 115	1	N-linked (GlcNAc...)2 Publications Manual assertion based on experiment inⁱ Ref.12 "Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis." Weitz G., Proia R.L. J. Biol. Chem. 267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295. Ref.18 "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis." Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N. J. Mol. Biol. 359:913-929(2006) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB, GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, DISULFIDE BONDS.
Glycosylationⁱ	157 – 157	1	N-linked (GlcNAc...)3 Publications Manual assertion based on experiment inⁱ Ref.12 "Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis." Weitz G., Proia R.L. J. Biol. Chem. 267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295. Ref.14 "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-157 AND ASN-295. Ref.18 "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis." Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N. J. Mol. Biol. 359:913-929(2006) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB, GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, DISULFIDE BONDS.
Disulfide bondⁱ	277 ↔ 328		1 Publication Manual assertion based on experiment inⁱ Ref.18 "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis." Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N. J. Mol. Biol. 359:913-929(2006) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB, GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, DISULFIDE BONDS.
Glycosylationⁱ	295 – 295	1	N-linked (GlcNAc...)3 Publications Manual assertion based on experiment inⁱ Ref.12 "Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis." Weitz G., Proia R.L. J. Biol. Chem. 267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295. Ref.14 "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-157 AND ASN-295. Ref.18 "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis." Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N. J. Mol. Biol. 359:913-929(2006) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB, GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, DISULFIDE BONDS.
Disulfide bondⁱ	505 ↔ 522		1 Publication Manual assertion based on experiment inⁱ Ref.18 "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis." Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N. J. Mol. Biol. 359:913-929(2006) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB, GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, DISULFIDE BONDS.

Post-translational modificationⁱ

N-linked glycan at Asn-115 consists of Man(3)-GlcNAc₂.3 Publications

Keywords - PTMⁱ

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

MaxQBⁱ	P06865.
PaxDbⁱ	P06865.
PeptideAtlasⁱ	P06865.
PRIDEⁱ	P06865.

PTM databases

PhosphoSiteⁱ	P06865.

PhosphoSiteⁱ

P06865.

Expressionⁱ

Gene expression databases

Bgeeⁱ	P06865.
CleanExⁱ	HS_HEXA.
ExpressionAtlasⁱ	P06865. baseline and differential.
Genevestigatorⁱ	P06865.

Organism-specific databases

HPAⁱ	HPA054583.

Interactionⁱ

Subunit structureⁱ

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.1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
ABL1	P00519	1	EBI-723519,EBI-375543
CRK	P46108	1	EBI-723519,EBI-886
FYN	P06241	1	EBI-723519,EBI-515315

With

Entry

#Exp.

IntAct

Notes

ABL1

P00519

EBI-723519,EBI-375543

CRK

P46108

EBI-723519,EBI-886

FYN

P06241

EBI-723519,EBI-515315

Protein-protein interaction databases

BioGridⁱ	109322. 25 interactions.
IntActⁱ	P06865. 6 interactions.
MINTⁱ	MINT-1393072.
STRINGⁱ	9606.ENSP00000268097.

Structureⁱ

Secondary structure

529

Legend: HelixTurnBeta strand

Show more details

Feature key	Position(s)	Length	Description
Beta strandⁱ	28 – 31	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	36 – 39	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Turnⁱ	41 – 43	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	45 – 48	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	59 – 73	15	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	93 – 100	8	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	104 – 106	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	116 – 123	8	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	125 – 131	7	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	132 – 145	14	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	146 – 148	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	154 – 157	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	159 – 163	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	168 – 175	8	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Turnⁱ	176 – 178	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	183 – 195	13	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	200 – 204	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	216 – 218	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GK1
Helixⁱ	220 – 225	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	226 – 228	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GK1
Turnⁱ	229 – 231	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	236 – 248	13	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	252 – 256	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	260 – 262	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Turnⁱ	264 – 269	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	274 – 290	17	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	295 – 311	17	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	314 – 318	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	327 – 331	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	333 – 341	9	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	349 – 364	16	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Turnⁱ	365 – 367	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	369 – 373	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	374 – 378	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	388 – 391	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	394 – 398	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	400 – 409	10	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	413 – 416	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	426 – 428	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	431 – 436	6	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	446 – 449	4	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	452 – 459	8	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Turnⁱ	466 – 468	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	469 – 473	5	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	476 – 485	10	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Helixⁱ	493 – 509	17	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX
Beta strandⁱ	517 – 519	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:2GJX

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

Links Updated

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1QBC	model	-	A	109-529	[»]
2GJX	X-ray	2.80	A/D/E/H	23-529	[»]
2GK1	X-ray	3.25	A/C/E/G	23-529	[»]

ProteinModelPortalⁱ

P06865.

SMRⁱ

P06865. Positions 23-528.

ModBaseⁱ

Search...

MobiDBⁱ

Search...

Miscellaneous databases

EvolutionaryTraceⁱ

P06865.

Family & Domainsⁱ

Region

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Regionⁱ	423 – 424	2	Critical for hydrolyzis GM2 gangliosides

Sequence similaritiesⁱ

Belongs to the glycosyl hydrolase 20 family.Curated

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	COG3525.
GeneTreeⁱ	ENSGT00390000008107.
HOGENOMⁱ	HOG000157972.
HOVERGENⁱ	HBG005961.
InParanoidⁱ	P06865.
KOⁱ	K12373.
OrthoDBⁱ	EOG7KDFB6.
PhylomeDBⁱ	P06865.
TreeFamⁱ	TF313036.

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.

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

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

This entry describes 2 isoformsⁱ produced by alternative splicing. Align

Isoform 1 (identifier: P06865-1) [UniParc]FASTA Add to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFQFQYDV 
        60         70         80         90        100
SSAAQPGCSV LDEAFQRYRD LLFGSGSWPR PYLTGKRHTL EKNVLVVSVV 
       110        120        130        140        150
TPGCNQLPTL ESVENYTLTI NDDQCLLLSE TVWGALRGLE TFSQLVWKSA 
       160        170        180        190        200
EGTFFINKTE IEDFPRFPHR GLLLDTSRHY LPLSSILDTL DVMAYNKLNV 
       210        220        230        240        250
FHWHLVDDPS FPYESFTFPE LMRKGSYNPV THIYTAQDVK EVIEYARLRG 
       260        270        280        290        300
IRVLAEFDTP GHTLSWGPGI PGLLTPCYSG SEPSGTFGPV NPSLNNTYEF 
       310        320        330        340        350
MSTFFLEVSS VFPDFYLHLG GDEVDFTCWK SNPEIQDFMR KKGFGEDFKQ 
       360        370        380        390        400
LESFYIQTLL DIVSSYGKGY VVWQEVFDNK VKIQPDTIIQ VWREDIPVNY 
       410        420        430        440        450
MKELELVTKA GFRALLSAPW YLNRISYGPD WKDFYIVEPL AFEGTPEQKA 
       460        470        480        490        500
LVIGGEACMW GEYVDNTNLV PRLWPRAGAV AERLWSNKLT SDLTFAYERL 
       510        520 
SHFRCELLRR GVQAQPLNVG FCEQEFEQT

Length:529

Mass (Da):60,703

Last modified:November 2, 2010 - v2

Checksum:ⁱDACB3E3992E57A47

Isoform 2 (identifier: P06865-2) [UniParc]FASTA Add to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-192: Missing.
     359-360: LL → YP
     361-529: Missing.

« Hide

        10         20         30         40         50
MAYNKLNVFH WHLVDDPSFP YESFTFPELM RKGSYNPVTH IYTAQDVKEV 
        60         70         80         90        100
IEYARLRGIR VLAEFDTPGH TLSWGPGIPG LLTPCYSGSE PSGTFGPVNP 
       110        120        130        140        150
SLNNTYEFMS TFFLEVSSVF PDFYLHLGGD EVDFTCWKSN PEIQDFMRKK 
       160 
GFGEDFKQLE SFYIQTYP

Note: No experimental confirmation available.

Show »

Length:168

Mass (Da):19,326

Checksum:ⁱ58E9CE3F7F778082

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Sequence conflictⁱ	331 – 331	1	S → P in BAD96222. 1 Publication Ref.5 Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-436. Curated

Natural variant

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	25 – 25	1	P → S in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.30 "Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene." Harmon D.L., Gardner-Medwin D., Stirling J.L. J. Med. Genet. 30:123-128(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 SER-25.	VAR_003202
Natural variantⁱ	39 – 39	1	L → R in GM2G1; infantile.	VAR_003203
Natural variantⁱ	127 – 127	1	L → F in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022439
Natural variantⁱ	127 – 127	1	L → R in GM2G1; infantile.	VAR_003204
Natural variantⁱ	166 – 166	1	R → G in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.34 "GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A." Peleg L., Meltzer F., Karpati M., Goldman B. Biochem. Mol. Med. 54:126-132(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 GLY-166.	VAR_003205
Natural variantⁱ	170 – 170	1	R → Q in GM2G1; infantile; inactive or unstable protein. 1 Publication Manual assertion based on experiment inⁱ Ref.38 "Tay-Sachs disease and HEXA mutations among Moroccan Jews." Kaufman M., Grinshpun-Cohen J., Karpati M., Peleg L., Goldman B., Akstein E., Adam A., Navon R. Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482.	VAR_003206
Natural variantⁱ	170 – 170	1	R → W in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation." Fernandes M., Kaplan F., Natowicz M., Prence E., Kolodny E., Kaback M., Hechtman P. Hum. Mol. Genet. 1:759-761(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TRP-170 AND HIS-258.	VAR_003207
Natural variantⁱ	178 – 178	1	R → C in GM2G1; infantile; inactive protein.	VAR_003208
Natural variantⁱ	178 – 178	1	R → H in GM2G1; infantile; inactive protein.	VAR_003209
Natural variantⁱ	178 – 178	1	R → L in GM2G1; infantile. Corresponds to variant rs28941770 [ dbSNP \| Ensembl ].	VAR_003210
Natural variantⁱ	180 – 180	1	Y → H in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.36 "Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene." de Gasperi R., Gama Sosa M.A., Battistini S., Yeretsian J., Raghavan S., Zelnik N., Leshinsky E., Kolodny E.H. Neurology 47:547-552(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 HIS-180. Corresponds to variant rs28941771 [ dbSNP \| Ensembl ].	VAR_003211
Natural variantⁱ	192 – 192	1	V → L in GM2G1; infantile.	VAR_003212
Natural variantⁱ	196 – 196	1	N → S in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.33 "Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England." Triggs-Raine B.L., Richard M., Wasel N., Prence E.M., Natowicz M.R. Am. J. Hum. Genet. 56:870-879(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 SER-196 AND SER-250.	VAR_003213
Natural variantⁱ	197 – 197	1	K → T in GM2G1.	VAR_003214
Natural variantⁱ	200 – 200	1	V → M in GM2G1. Corresponds to variant rs1800429 [ dbSNP \| Ensembl ].	VAR_003215
Natural variantⁱ	204 – 204	1	H → R in GM2G1; infantile.	VAR_003216
Natural variantⁱ	210 – 210	1	S → F in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.22 "Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments." Akli S., Lacorte J.-M., Poenaru L., Khan A. Genomics 11:124-134(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-210 AND CYS-504.	VAR_003217
Natural variantⁱ	211 – 211	1	F → S in GM2G1; infantile.	VAR_003218
Natural variantⁱ	226 – 226	1	S → F in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022440
Natural variantⁱ	247 – 247	1	R → W in HEXA pseudodeficiency. 1 Publication Manual assertion based on experiment inⁱ Ref.24 "A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening." Triggs-Raine B.L., Mules E.H., Kaback M.M., Lim-Steele J.S.T., Dowling C.E., Akerman B.R., Natowicz M.R., Grebner E.E., Navon R., Welch J.P., Greenberg C.R., Thomas G.H., Gravel R.A. Am. J. Hum. Genet. 51:793-801(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PSEUDODEFICIENCY TRP-247. Corresponds to variant rs121907970 [ dbSNP \| Ensembl ].	VAR_003219
Natural variantⁱ	249 – 249	1	R → W in HEXA pseudodeficiency. 2 Publications Manual assertion based on experiment inⁱ Ref.6 "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PSEUDODEFICIENCY TRP-249 AND VAL-436. Ref.28 "A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation." Cao Z., Natowicz M.R., Kaback M.M., Lim-Steele J.S.T., Prence E.M., Brown D., Chabot T., Triggs-Raine B.L. Am. J. Hum. Genet. 53:1198-1205(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PSEUDODEFICIENCY TRP-249.	VAR_003220
Natural variantⁱ	250 – 250	1	G → D in GM2G1; juvenile. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family." Trop I., Kaplan F., Brown C., Mahuran D., Hechtman P. Hum. Mutat. 1:35-39(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 ASP-250.	VAR_003221
Natural variantⁱ	250 – 250	1	G → S in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.33 "Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England." Triggs-Raine B.L., Richard M., Wasel N., Prence E.M., Natowicz M.R. Am. J. Hum. Genet. 56:870-879(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 SER-196 AND SER-250.	VAR_003222
Natural variantⁱ	252 – 252	1	R → H in GM2G1.	VAR_003223
Natural variantⁱ	252 – 252	1	R → L in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_017188
Natural variantⁱ	258 – 258	1	D → H in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation." Fernandes M., Kaplan F., Natowicz M., Prence E., Kolodny E., Kaback M., Hechtman P. Hum. Mol. Genet. 1:759-761(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TRP-170 AND HIS-258.	VAR_003224
Natural variantⁱ	269 – 269	1	G → D in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022441
Natural variantⁱ	269 – 269	1	G → S in GM2G1; late onset; inhibited subunit dissociation. 1 Publication Manual assertion based on experiment inⁱ Ref.20 "The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease." Navon R., Proia R.L. Science 243:1471-1474(1989) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 SER-269.	VAR_003225
Natural variantⁱ	279 – 279	1	S → P in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.40 "Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease." Drucker L., Hemli J.A., Navon R. Hum. Mutat. 10:451-457(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 PRO-279.	VAR_003226
Natural variantⁱ	293 – 293	1	S → I. Corresponds to variant rs1054374 [ dbSNP \| Ensembl ].	VAR_058477
Natural variantⁱ	295 – 295	1	N → S in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499. Corresponds to variant rs199578185 [ dbSNP \| Ensembl ].	VAR_017189
Natural variantⁱ	301 – 301	1	M → R in GM2G1; infantile.	VAR_003227
Natural variantⁱ	304 – 304	1	Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication Manual assertion based on experiment inⁱ Ref.38 "Tay-Sachs disease and HEXA mutations among Moroccan Jews." Kaufman M., Grinshpun-Cohen J., Karpati M., Peleg L., Goldman B., Akstein E., Adam A., Navon R. Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482.	VAR_003228
Natural variantⁱ	314 – 314	1	D → V in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.37 "Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease." Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A. Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.	VAR_022442
Natural variantⁱ	320 – 320	1	Missing in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.23 "Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals." Mules E.H., Hayflick S., Miller C.S., Reynolds L.W., Thomas G.H. Am. J. Hum. Genet. 50:834-841(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 GLY-320 DEL, VARIANTS ASP-399 AND VAL-436.	VAR_003229
Natural variantⁱ	335 – 335	1	I → F in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.31 "Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease." Tomczak J., Grebner E.E. Hum. Mutat. 4:71-72(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-335 AND 347-ASP--GLU-352 DEL.	VAR_003230
Natural variantⁱ	347 – 352	6	Missing in GM2G1. 1 Publication Manual assertion based on experiment inⁱ Ref.31 "Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease." Tomczak J., Grebner E.E. Hum. Mutat. 4:71-72(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-335 AND 347-ASP--GLU-352 DEL.	VAR_003231
Natural variantⁱ	391 – 391	1	V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication Manual assertion based on experiment inⁱ Ref.35 "A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype." Navon R., Khosravi R., Korczyn T., Masson M., Sonnino S., Fardeau M., Eymard B., Lefevre N., Turpin J.C., Rondot P. Neurology 45:539-543(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 MET-391.	VAR_003232
Natural variantⁱ	399 – 399	1	N → D.1 Publication Manual assertion based on experiment inⁱ Ref.23 "Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals." Mules E.H., Hayflick S., Miller C.S., Reynolds L.W., Thomas G.H. Am. J. Hum. Genet. 50:834-841(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 GLY-320 DEL, VARIANTS ASP-399 AND VAL-436. Corresponds to variant rs1800430 [ dbSNP \| Ensembl ].	VAR_003233
Natural variantⁱ	420 – 420	1	W → C in GM2G1; infantile; inactive protein. 2 Publications Manual assertion based on experiment inⁱ Ref.21 "A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)." Tanaka A., Punnett H.H., Suzuki K. Am. J. Hum. Genet. 47:568-574(1990) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 CYS-420. Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_003234
Natural variantⁱ	436 – 436	1	I → V.9 Publications Manual assertion based on experiment inⁱ Ref.1 "Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain." Myerowitz R., Piekarz R., Neufeld E.F., Shows T.B., Suzuki K. Proc. Natl. Acad. Sci. U.S.A. 82:7830-7834(1985) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-436. Ref.2 "Organization of the gene encoding the human beta-hexosaminidase alpha-chain." Proia R.L., Soravia E. J. Biol. Chem. 262:5677-5681(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-436. Ref.3 "Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease." Triggs-Raine B.L., Akerman B.R., Clarke J.T.R., Gravel R.A. Am. J. Hum. Genet. 49:1041-1054(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-436. Ref.5 Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-436. Ref.6 "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PSEUDODEFICIENCY TRP-249 AND VAL-436. Ref.8 "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-436. Ref.9 "Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease." Korneluk R.G., Mahuran D.J., Neote K., Klavins M.H., O'Dowd B.F., Tropak M., Willard H.F., Anderson M.-J., Lowden J.A., Gravel R.A. J. Biol. Chem. 261:8407-8413(1986) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 40-529 (ISOFORM 1), VARIANT VAL-436. Ref.23 "Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals." Mules E.H., Hayflick S., Miller C.S., Reynolds L.W., Thomas G.H. Am. J. Hum. Genet. 50:834-841(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 GLY-320 DEL, VARIANTS ASP-399 AND VAL-436. Ref.43 "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-436, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Corresponds to variant rs1800431 [ dbSNP \| Ensembl ].	VAR_003235
Natural variantⁱ	454 – 454	1	G → S in GM2G1; infantile.	VAR_003236
Natural variantⁱ	455 – 455	1	G → R in GM2G1; late infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.39 "Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients." Ribeiro M.G., Pinto R.A., Suzuki K., Sa Miranda M.C. Hum. Mutat. 10:359-360(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 ARG-455.	VAR_003237
Natural variantⁱ	458 – 458	1	C → Y in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.32 "Molecular genetics of Tay-Sachs disease in Japan." Tanaka A., Sakazaki H., Murakami H., Isshiki G., Suzuki K. J. Inherit. Metab. Dis. 17:593-600(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TYR-458 AND GLN-484.	VAR_003238
Natural variantⁱ	474 – 474	1	W → C in GM2G1; subacute. 1 Publication Manual assertion based on experiment inⁱ Ref.41 "W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis." Petroulakis E., Cao Z., Clarke J.T.R., Mahuran D.J., Lee G., Triggs-Raine B. Hum. Mutat. 11:432-442(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 CYS-474.	VAR_003239
Natural variantⁱ	482 – 482	1	E → K in GM2G1; infantile. 2 Publications Manual assertion based on experiment inⁱ Ref.19 "A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant." Nakano T., Muscillo M., Ohno K., Hoffman A.J., Suzuki K. J. Neurochem. 51:984-987(1988) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 LYS-482. Ref.38 "Tay-Sachs disease and HEXA mutations among Moroccan Jews." Kaufman M., Grinshpun-Cohen J., Karpati M., Peleg L., Goldman B., Akstein E., Adam A., Navon R. Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482.	VAR_003240
Natural variantⁱ	484 – 484	1	L → Q in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.32 "Molecular genetics of Tay-Sachs disease in Japan." Tanaka A., Sakazaki H., Murakami H., Isshiki G., Suzuki K. J. Inherit. Metab. Dis. 17:593-600(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 TYR-458 AND GLN-484.	VAR_003241
Natural variantⁱ	485 – 485	1	W → R in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "Novel Tay-Sachs disease mutations from China." Akalin N., Shi H.-P., Vavougios G., Hechtman P., Lo W., Scriver C.R., Mahuran D., Kaplan F. Hum. Mutat. 1:40-46(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GM2G1 ARG-485.	VAR_003242
Natural variantⁱ	499 – 499	1	R → C in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_003243
Natural variantⁱ	499 – 499	1	R → H in GM2G1; juvenile. 1 Publication Manual assertion based on experiment inⁱ Ref.42 "Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form." Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T. J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.	VAR_003244
Natural variantⁱ	504 – 504	1	R → C in GM2G1; infantile. 1 Publication Manual assertion based on experiment inⁱ Ref.22 "Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments." Akli S., Lacorte J.-M., Poenaru L., Khan A. Genomics 11:124-134(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GM2G1 PHE-210 AND CYS-504. Corresponds to variant rs28942071 [ dbSNP \| Ensembl ].	VAR_003245
Natural variantⁱ	504 – 504	1	R → H in GM2G1; juvenile; inhibited subunit dissociation.	VAR_003246

Alternative sequence

Feature key	Position(s)	Length	Description	Feature identifier	Actions
Alternative sequenceⁱ	1 – 192	192	Missing in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).	VSP_056657	Add BLAST
Alternative sequenceⁱ	359 – 360	2	LL → YP in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).	VSP_056658
Alternative sequenceⁱ	361 – 529	169	Missing in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).	VSP_056659	Add BLAST

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M16424 M16423 Genomic DNA. Translation: AAB00965.1. S62076 S62072 Genomic DNA. Translation: AAD13932.1. AK296528 mRNA. Translation: BAG59159.1. AK222502 mRNA. Translation: BAD96222.1. CR627386 mRNA. Translation: CAH10482.1. AC009690 Genomic DNA. No translation available. BC018927 mRNA. Translation: AAH18927.1. BC084537 mRNA. Translation: AAH84537.1. M13520 mRNA. Translation: AAA51827.1.
CCDSⁱ	CCDS10243.1. [P06865-1]
PIRⁱ	A23561. AOHUBA.
RefSeqⁱ	NP_000511.2. NM_000520.4. [P06865-1]
UniGeneⁱ	Hs.604479. Hs.709495.

Genome annotation databases

Ensemblⁱ	ENST00000268097; ENSP00000268097; ENSG00000213614. [P06865-1]
GeneIDⁱ	3073.
KEGGⁱ	hsa:3073.
UCSCⁱ	uc002aun.4. human. [P06865-1]

Polymorphism databases

DMDMⁱ	311033393.

DMDMⁱ

311033393.

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Web resourcesⁱ

HEXAdb

HEXA mutation database

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M16424 M16423 Genomic DNA. Translation: AAB00965.1 . S62076 S62072 Genomic DNA. Translation: AAD13932.1 . AK296528 mRNA. Translation: BAG59159.1 . AK222502 mRNA. Translation: BAD96222.1 . CR627386 mRNA. Translation: CAH10482.1 . AC009690 Genomic DNA. No translation available. BC018927 mRNA. Translation: AAH18927.1 . BC084537 mRNA. Translation: AAH84537.1 . M13520 mRNA. Translation: AAA51827.1 .
CCDSⁱ	CCDS10243.1. [P06865-1 ]
PIRⁱ	A23561. AOHUBA.
RefSeqⁱ	NP_000511.2. NM_000520.4. [P06865-1 ]
UniGeneⁱ	Hs.604479. Hs.709495.

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

Links Updated

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1QBC	model	-	A	109-529	[» ]
2GJX	X-ray	2.80	A/D/E/H	23-529	[» ]
2GK1	X-ray	3.25	A/C/E/G	23-529	[» ]

ProteinModelPortalⁱ

P06865.

SMRⁱ

P06865. Positions 23-528.

ModBaseⁱ

Search...

MobiDBⁱ

Search...

Protein-protein interaction databases

BioGridⁱ	109322. 25 interactions.
IntActⁱ	P06865. 6 interactions.
MINTⁱ	MINT-1393072.
STRINGⁱ	9606.ENSP00000268097.

Chemistry

BindingDBⁱ	P06865.
ChEMBLⁱ	CHEMBL3038485.

Protein family/group databases

CAZyⁱ	GH20. Glycoside Hydrolase Family 20.

CAZyⁱ

GH20. Glycoside Hydrolase Family 20.

PTM databases

PhosphoSiteⁱ	P06865.

PhosphoSiteⁱ

P06865.

Polymorphism databases

DMDMⁱ	311033393.

DMDMⁱ

311033393.

Proteomic databases

MaxQBⁱ	P06865.
PaxDbⁱ	P06865.
PeptideAtlasⁱ	P06865.
PRIDEⁱ	P06865.

Protocols and materials databases

DNASUⁱ	3073.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000268097 ; ENSP00000268097 ; ENSG00000213614 . [P06865-1 ]
GeneIDⁱ	3073.
KEGGⁱ	hsa:3073.
UCSCⁱ	uc002aun.4. human. [P06865-1 ]

Organism-specific databases

CTDⁱ	3073.
GeneCardsⁱ	GC15M072635.
GeneReviewsⁱ	HEXA.
H-InvDB	HIX0012407.
HGNCⁱ	HGNC:4878. HEXA.
HPAⁱ	HPA054583.
MIMⁱ	272800. phenotype. 606869. gene.
neXtProtⁱ	NX_P06865.
Orphanetⁱ	309192. Tay-Sachs disease, B variant, adult form. 309178. Tay-Sachs disease, B variant, infantile form. 309185. Tay-Sachs disease, B variant, juvenile form. 309239. Tay-Sachs disease, B1 variant.
PharmGKBⁱ	PA29256.
GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	COG3525.
GeneTreeⁱ	ENSGT00390000008107.
HOGENOMⁱ	HOG000157972.
HOVERGENⁱ	HBG005961.
InParanoidⁱ	P06865.
KOⁱ	K12373.
OrthoDBⁱ	EOG7KDFB6.
PhylomeDBⁱ	P06865.
TreeFamⁱ	TF313036.

Enzyme and pathway databases

BioCycⁱ	MetaCyc:ENSG00000140495-MONOMER.
Reactomeⁱ	REACT_116105. Glycosphingolipid metabolism. REACT_120888. CS/DS degradation. REACT_120996. Hyaluronan uptake and degradation. REACT_121313. Keratan sulfate degradation.
SABIO-RK	P06865.

Miscellaneous databases

EvolutionaryTraceⁱ	P06865.
GeneWikiⁱ	HEXA.
GenomeRNAiⁱ	3073.
NextBioⁱ	12155.
PROⁱ	P06865.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	P06865.
CleanExⁱ	HS_HEXA.
ExpressionAtlasⁱ	P06865. baseline and differential.
Genevestigatorⁱ	P06865.

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

« Hide 'large scale' publications

"Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain."
Myerowitz R., Piekarz R., Neufeld E.F., Shows T.B., Suzuki K.
Proc. Natl. Acad. Sci. U.S.A. 82:7830-7834(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-436.
"Organization of the gene encoding the human beta-hexosaminidase alpha-chain."
Proia R.L., Soravia E.
J. Biol. Chem. 262:5677-5681(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-436.
"Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease."
Triggs-Raine B.L., Akerman B.R., Clarke J.T.R., Gravel R.A.
Am. J. Hum. Genet. 49:1041-1054(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-436.
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Thalamus.
Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-436.
Tissue: Adipose tissue.
"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PSEUDODEFICIENCY TRP-249 AND VAL-436.
"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-436.
Tissue: Brain and Eye.
"Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease."
Korneluk R.G., Mahuran D.J., Neote K., Klavins M.H., O'Dowd B.F., Tropak M., Willard H.F., Anderson M.-J., Lowden J.A., Gravel R.A.
J. Biol. Chem. 261:8407-8413(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 40-529 (ISOFORM 1), VARIANT VAL-436.
"Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits."
Mahuran D.J., Neote K., Klavins M.H., Leung A., Gravel R.A.
J. Biol. Chem. 263:4612-4618(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 89-99.
"Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase."
O'Dowd B.F., Cumming D.A., Gravel R.A., Mahuran D.J.
Biochemistry 27:5216-5226(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 96-105, STRUCTURE OF CARBOHYDRATES.
"Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis."
Weitz G., Proia R.L.
J. Biol. Chem. 267:10039-10044(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, MUTAGENESIS OF ASN-115; ASN-157 AND ASN-295.
"Identification of an active acidic residue in the catalytic site of beta-hexosaminidase."
Tse R., Vavougios G., Hou Y., Mahuran D.J.
Biochemistry 35:7599-7607(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: ACTIVE SITES.
"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-157 AND ASN-295.
Tissue: Liver.
"Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease."
Tews I., Perrakis A., Oppenheim A., Dauter Z., Wilson K.S., Vorgias C.E.
Nat. Struct. Biol. 3:638-648(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: 3D-STRUCTURE MODELING.
"The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis."
Mahuran D.J.
Biochim. Biophys. Acta 1096:87-94(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
"Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene."
Myerowitz R.
Hum. Mutat. 9:195-208(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
"Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis."
Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N.
J. Mol. Biol. 359:913-929(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 23-529 IN COMPLEX WITH HEXB, GLYCOSYLATION AT ASN-115; ASN-157 AND ASN-295, DISULFIDE BONDS.
"A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant."
Nakano T., Muscillo M., Ohno K., Hoffman A.J., Suzuki K.
J. Neurochem. 51:984-987(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 LYS-482.
"The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease."
Navon R., Proia R.L.
Science 243:1471-1474(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 SER-269.
"A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)."
Tanaka A., Punnett H.H., Suzuki K.
Am. J. Hum. Genet. 47:568-574(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 CYS-420.
"Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments."
Akli S., Lacorte J.-M., Poenaru L., Khan A.
Genomics 11:124-134(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 PHE-210 AND CYS-504.
"Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals."
Mules E.H., Hayflick S., Miller C.S., Reynolds L.W., Thomas G.H.
Am. J. Hum. Genet. 50:834-841(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 GLY-320 DEL, VARIANTS ASP-399 AND VAL-436.
"A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening."
Triggs-Raine B.L., Mules E.H., Kaback M.M., Lim-Steele J.S.T., Dowling C.E., Akerman B.R., Natowicz M.R., Grebner E.E., Navon R., Welch J.P., Greenberg C.R., Thomas G.H., Gravel R.A.
Am. J. Hum. Genet. 51:793-801(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PSEUDODEFICIENCY TRP-247.
"A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation."
Fernandes M., Kaplan F., Natowicz M., Prence E., Kolodny E., Kaback M., Hechtman P.
Hum. Mol. Genet. 1:759-761(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 TRP-170 AND HIS-258.
"A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family."
Trop I., Kaplan F., Brown C., Mahuran D., Hechtman P.
Hum. Mutat. 1:35-39(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 ASP-250.
"Novel Tay-Sachs disease mutations from China."
Akalin N., Shi H.-P., Vavougios G., Hechtman P., Lo W., Scriver C.R., Mahuran D., Kaplan F.
Hum. Mutat. 1:40-46(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 ARG-485.
"A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation."
Cao Z., Natowicz M.R., Kaback M.M., Lim-Steele J.S.T., Prence E.M., Brown D., Chabot T., Triggs-Raine B.L.
Am. J. Hum. Genet. 53:1198-1205(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PSEUDODEFICIENCY TRP-249.
"Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients."
Akli S., Chomel J.-C., Lacorte J.-M., Bachner L., Poenaru A., Poenaru L.
Hum. Mol. Genet. 2:61-67(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1.
"Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene."
Harmon D.L., Gardner-Medwin D., Stirling J.L.
J. Med. Genet. 30:123-128(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 SER-25.
"Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease."
Tomczak J., Grebner E.E.
Hum. Mutat. 4:71-72(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 PHE-335 AND 347-ASP--GLU-352 DEL.
"Molecular genetics of Tay-Sachs disease in Japan."
Tanaka A., Sakazaki H., Murakami H., Isshiki G., Suzuki K.
J. Inherit. Metab. Dis. 17:593-600(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 TYR-458 AND GLN-484.
"Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England."
Triggs-Raine B.L., Richard M., Wasel N., Prence E.M., Natowicz M.R.
Am. J. Hum. Genet. 56:870-879(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 SER-196 AND SER-250.
"GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A."
Peleg L., Meltzer F., Karpati M., Goldman B.
Biochem. Mol. Med. 54:126-132(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 GLY-166.
"A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype."
Navon R., Khosravi R., Korczyn T., Masson M., Sonnino S., Fardeau M., Eymard B., Lefevre N., Turpin J.C., Rondot P.
Neurology 45:539-543(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 MET-391.
"Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene."
de Gasperi R., Gama Sosa M.A., Battistini S., Yeretsian J., Raghavan S., Zelnik N., Leshinsky E., Kolodny E.H.
Neurology 47:547-552(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 HIS-180.
"Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease."
Akerman B.R., Natowicz M.R., Kaback M.M., Loyer M., Campeau E., Gravel R.A.
Am. J. Hum. Genet. 60:1099-1106(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314.
"Tay-Sachs disease and HEXA mutations among Moroccan Jews."
Kaufman M., Grinshpun-Cohen J., Karpati M., Peleg L., Goldman B., Akstein E., Adam A., Navon R.
Hum. Mutat. 10:295-300(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 GLN-170; PHE-304 DEL AND LYS-482.
"Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients."
Ribeiro M.G., Pinto R.A., Suzuki K., Sa Miranda M.C.
Hum. Mutat. 10:359-360(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 ARG-455.
"Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease."
Drucker L., Hemli J.A., Navon R.
Hum. Mutat. 10:451-457(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 PRO-279.
"W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis."
Petroulakis E., Cao Z., Clarke J.T.R., Mahuran D.J., Lee G., Triggs-Raine B.
Hum. Mutat. 11:432-442(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GM2G1 CYS-474.
"Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form."
Tanaka A., Hoang L.T., Nishi Y., Maniwa S., Oka M., Yamano T.
J. Hum. Genet. 48:571-574(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GM2G1 LEU-252; SER-295; CYS-420; CYS-499 AND HIS-499.
"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-436, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

+Additional computationally mapped references.

Entry informationⁱ

Entry nameⁱ

HEXA_HUMAN

Accessionⁱ

Primary (citable) accession number: P06865
Secondary accession number(s): B4DKE7

Q6AI32

Entry historyⁱ

Integrated into UniProtKB/Swiss-Prot:	January 1, 1988
Last sequence update:	November 2, 2010
Last modified:	January 7, 2015
This is version 178 of the entry and version 2 of the sequence. [Complete history]

Entry statusⁱ

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries
Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

External Data

Dasty 3

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

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UniRef

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UniParc

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P06865

- HEXA_HUMAN

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P06865 - HEXA_HUMAN

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Beta-hexosaminidase subunit alpha

HEXA

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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

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<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>Provides information on the disease(s) and phenotype(s) associated with the deficiency of a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

GM2-gangliosidosis 1 (GM2G1)

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<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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<p>Contains the literature citations that are the sources of data used to annotate the entry. Each reference is numbered and contains several subsections allowing a precise description of a given citation.</p><p><a href='../manual/publications_section' target='_top'>More...</a></p>Publicationsi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (2)ⁱ

Cross-referencesⁱ

Web resourcesⁱ

Publicationsⁱ

Entry informationⁱ

Miscellaneousⁱ