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Entry version 209 (28 Feb 2018)
Sequence version 2 (02 Nov 2010)
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Protein

Beta-hexosaminidase subunit alpha

Gene

HEXA

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.

Caution

Catalytic activityⁱ

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

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Active siteⁱ	323	Proton donorBy similarity		1

GO - Molecular functionⁱ

acetylglucosaminyltransferase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 25645918
beta-N-acetylhexosaminidase activity Source: Reactome
N-acetyl-beta-D-galactosaminidase activity Source: UniProtKB-EC
protein heterodimerization activity
Source: MGI
Inferred from direct assayⁱ
- 6230359

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

carbohydrate metabolic process Source: InterPro
chondroitin sulfate catabolic process Source: Reactome
glycosaminoglycan biosynthetic process
Source: UniProtKB
Inferred from direct assayⁱ
- 25645918
glycosphingolipid metabolic process Source: Reactome
hyaluronan catabolic process Source: Reactome
keratan sulfate catabolic process Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Glycosidase, Hydrolase

Molecular function

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCycⁱ	MetaCyc:ENSG00000140495-MONOMER
BRENDAⁱ	3.2.1.169 2681
Reactomeⁱ	R-HSA-1660662 Glycosphingolipid metabolism R-HSA-2022857 Keratan sulfate degradation R-HSA-2024101 CS/DS degradation R-HSA-2160916 Hyaluronan uptake and degradation
SABIO-RKⁱ	P06865

Protein family/group databases

Carbohydrate-Active enZymes More...CAZyⁱ	GH20 Glycoside Hydrolase Family 20

CAZyⁱ

GH20 Glycoside Hydrolase Family 20

Chemistry databases

SwissLipidsⁱ	SLP:000001416 [P06865-1]

SwissLipidsⁱ

SLP:000001416 [P06865-1]

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 Componentⁱ: Chromosome 15

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000213614.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4878 HEXA
MIMⁱ	606869 gene
neXtProtⁱ	NX_P06865

Keywords - Cellular componentⁱ

Lysosome

Pathology & Biotechⁱ

Involvement in diseaseⁱ

GM2-gangliosidosis 1 (GM2G1)25 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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).

See also OMIM:272800

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003202	25	P → S in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_003203	39	L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907979Ensembl.	1
Natural variantⁱVAR_077497	114	E → K in GM2G1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748190164Ensembl.	1
Natural variantⁱVAR_022439	127	L → F in GM2G1. 1 Publication	1
Natural variantⁱVAR_003204	127	L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907975Ensembl.	1
Natural variantⁱVAR_003205	166	R → G in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_003206	170	R → Q in GM2G1; infantile; inactive or unstable protein. 1 PublicationCorresponds to variant dbSNP:rs121907957Ensembl.	1
Natural variantⁱVAR_003207	170	R → W in GM2G1; infantile. 2 PublicationsCorresponds to variant dbSNP:rs121907972Ensembl.	1
Natural variantⁱVAR_003208	178	R → C in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs121907953Ensembl.	1
Natural variantⁱVAR_003209	178	R → H in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs28941770Ensembl.	1
Natural variantⁱVAR_003210	178	R → L in GM2G1; infantile. Corresponds to variant dbSNP:rs28941770Ensembl.	1
Natural variantⁱVAR_003211	180	Y → H in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs28941771Ensembl.	1
Natural variantⁱVAR_003212	192	V → L in GM2G1; infantile. Corresponds to variant dbSNP:rs387906310Ensembl.	1
Natural variantⁱVAR_003213	196	N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs753862880Ensembl.	1
Natural variantⁱVAR_003214	197	K → T in GM2G1. Corresponds to variant dbSNP:rs121907973Ensembl.	1
Natural variantⁱVAR_003215	200	V → M in GM2G1. Corresponds to variant dbSNP:rs1800429Ensembl.	1
Natural variantⁱVAR_003216	204	H → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907976Ensembl.	1
Natural variantⁱVAR_003217	210	S → F in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907961Ensembl.	1
Natural variantⁱVAR_003218	211	F → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907974Ensembl.	1
Natural variantⁱVAR_022440	226	S → F in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs769866128Ensembl.	1
Natural variantⁱVAR_003221	250	G → D in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907959Ensembl.	1
Natural variantⁱVAR_003222	250	G → S in GM2G1. 1 Publication	1
Natural variantⁱVAR_003223	252	R → H in GM2G1. Corresponds to variant dbSNP:rs762255098Ensembl.	1
Natural variantⁱVAR_017188	252	R → L in GM2G1. 1 Publication	1
Natural variantⁱVAR_003224	258	D → H in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907971Ensembl.	1
Natural variantⁱVAR_022441	269	G → D in GM2G1. 1 Publication	1
Natural variantⁱVAR_003225	269	G → S in GM2G1; late onset; inhibited subunit dissociation; loss of processing to a mature form; increased degradation. 2 PublicationsCorresponds to variant dbSNP:rs121907954Ensembl.	1
Natural variantⁱVAR_003226	279	S → P in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_017189	295	N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs199578185Ensembl.	1
Natural variantⁱVAR_003227	301	M → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907977Ensembl.	1
Natural variantⁱVAR_003228	304	Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication	1
Natural variantⁱVAR_022442	314	D → V in GM2G1. 1 Publication	1
Natural variantⁱVAR_003229	320	Missing in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_077498	322	D → N in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415Ensembl.	1
Natural variantⁱVAR_077499	322	D → Y in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415Ensembl.	1
Natural variantⁱVAR_003230	335	I → F in GM2G1. 1 Publication	1
Natural variantⁱVAR_003231	347 – 352	Missing in GM2G1. 1 Publication	6
Natural variantⁱVAR_003232	391	V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication	1
Natural variantⁱVAR_077500	393	R → P in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs370266293Ensembl.	1
Natural variantⁱVAR_003234	420	W → C in GM2G1; infantile; inactive protein. 2 PublicationsCorresponds to variant dbSNP:rs121907958Ensembl.	1
Natural variantⁱVAR_003236	454	G → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907978Ensembl.	1
Natural variantⁱVAR_003237	455	G → R in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_003238	458	C → Y in GM2G1; infantile. 1 Publication	1
Natural variantⁱVAR_077501	462	E → V in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs863225434Ensembl.	1
Natural variantⁱVAR_003239	474	W → C in GM2G1; subacute. 1 PublicationCorresponds to variant dbSNP:rs121907981Ensembl.	1
Natural variantⁱVAR_077502	478	G → R in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057519467Ensembl.	1
Natural variantⁱVAR_003240	482	E → K in GM2G1; infantile; loss of processing to a mature form; increased degradation. 3 PublicationsCorresponds to variant dbSNP:rs121907952Ensembl.	1
Natural variantⁱVAR_003241	484	L → Q in GM2G1; infantile. 1 Publication	1
Natural variantⁱVAR_003242	485	W → R in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907968Ensembl.	1
Natural variantⁱVAR_003243	499	R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907966Ensembl.	1
Natural variantⁱVAR_003244	499	R → H in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907956Ensembl.	1
Natural variantⁱVAR_003245	504	R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs28942071Ensembl.	1
Natural variantⁱVAR_003246	504	R → H in GM2G1; juvenile; fails to associate with the beta-subunit to form the enzymatically active heterodimer. 1 PublicationCorresponds to variant dbSNP:rs121907955Ensembl.	1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	115	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	1
Mutagenesisⁱ	157	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	1
Mutagenesisⁱ	295	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	1

Keywords - Diseaseⁱ

Disease mutation, Gangliosidosis, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3073
GeneReviewsⁱ	HEXA
MalaCards human disease database More...MalaCardsⁱ	HEXA
MIMⁱ	272800 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000213614
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

Chemistry databases

ChEMBLⁱ	CHEMBL1250415

ChEMBLⁱ

CHEMBL1250415

Polymorphism and mutation databases

BioMutaⁱ	HEXA
DMDMⁱ	311033393

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Length
Signal peptideⁱ	1 – 22	1 PublicationAdd BLAST	22
PropeptideⁱPRO_0000011993	23 – 88	1 PublicationAdd BLAST	66
ChainⁱPRO_0000011994	89 – 529	Beta-hexosaminidase subunit alphaAdd BLAST	441

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Disulfide bondⁱ	58 ↔ 104	1 Publication
Glycosylationⁱ	115	N-linked (GlcNAc...) asparagine2 Publications	1
Glycosylationⁱ	157	N-linked (GlcNAc...) asparagine3 Publications	1
Disulfide bondⁱ	277 ↔ 328	1 Publication
Glycosylationⁱ	295	N-linked (GlcNAc...) asparagine3 Publications	1
Disulfide bondⁱ	505 ↔ 522	1 Publication

Post-translational modificationⁱ

N-linked glycan at Asn-115 consists of Man₃-GlcNAc₂.3 Publications

Keywords - PTMⁱ

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

EPDⁱ	P06865
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P06865
PaxDbⁱ	P06865
PeptideAtlas More...PeptideAtlasⁱ	P06865
PRIDEⁱ	P06865

PTM databases

iPTMnetⁱ	P06865
PhosphoSitePlusⁱ	P06865
SwissPalmⁱ	P06865

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000213614
CleanExⁱ	HS_HEXA
ExpressionAtlasⁱ	P06865 baseline and differential
Genevisibleⁱ	P06865 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA054583

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	Notes
HEXB	P07686	2	EBI-723519,EBI-7133736

With

Entry

#Exp.

IntAct

Notes

HEXB

P07686

EBI-723519,EBI-7133736

GO - Molecular functionⁱ

protein heterodimerization activity
Source: MGI
Inferred from direct assayⁱ
- 6230359

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	10932238 interactors.
CORUMⁱ	P06865
IntActⁱ	P06865 15 interactors.
STRINGⁱ	9606.ENSP00000268097

Chemistry databases

BindingDBⁱ	P06865

BindingDBⁱ

P06865

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

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

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB 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
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P06865

EvolutionaryTraceⁱ

P06865

Family & Domainsⁱ

Region

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

Sequence similaritiesⁱ

Belongs to the glycosyl hydrolase 20 family.Curated

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	KOG2499 Eukaryota COG3525 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000008107
HOGENOMⁱ	HOG000157972
HOVERGENⁱ	HBG005961
InParanoidⁱ	P06865
KEGG Orthology (KO) More...KOⁱ	K12373
PhylomeDBⁱ	P06865
TreeFamⁱ	TF313036

Family and domain databases

Gene3Dⁱ	3.30.379.101 hit
InterProⁱ	View protein in InterPro IPR025705 Beta_hexosaminidase_sua/sub IPR015883 Glyco_hydro_20_cat IPR017853 Glycoside_hydrolase_SF IPR029018 Hex-like_dom2 IPR029019 HEX_eukaryotic_N
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00728 Glyco_hydro_20, 1 hit PF14845 Glycohydro_20b2, 1 hit
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 Add to basket Added to basket

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)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	331	S → P in BAD96222 (Ref. 5) Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003202	25	P → S in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_003203	39	L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907979Ensembl.	1
Natural variantⁱVAR_077497	114	E → K in GM2G1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748190164Ensembl.	1
Natural variantⁱVAR_022439	127	L → F in GM2G1. 1 Publication	1
Natural variantⁱVAR_003204	127	L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907975Ensembl.	1
Natural variantⁱVAR_003205	166	R → G in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_003206	170	R → Q in GM2G1; infantile; inactive or unstable protein. 1 PublicationCorresponds to variant dbSNP:rs121907957Ensembl.	1
Natural variantⁱVAR_003207	170	R → W in GM2G1; infantile. 2 PublicationsCorresponds to variant dbSNP:rs121907972Ensembl.	1
Natural variantⁱVAR_003208	178	R → C in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs121907953Ensembl.	1
Natural variantⁱVAR_003209	178	R → H in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs28941770Ensembl.	1
Natural variantⁱVAR_003210	178	R → L in GM2G1; infantile. Corresponds to variant dbSNP:rs28941770Ensembl.	1
Natural variantⁱVAR_003211	180	Y → H in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs28941771Ensembl.	1
Natural variantⁱVAR_003212	192	V → L in GM2G1; infantile. Corresponds to variant dbSNP:rs387906310Ensembl.	1
Natural variantⁱVAR_003213	196	N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs753862880Ensembl.	1
Natural variantⁱVAR_003214	197	K → T in GM2G1. Corresponds to variant dbSNP:rs121907973Ensembl.	1
Natural variantⁱVAR_003215	200	V → M in GM2G1. Corresponds to variant dbSNP:rs1800429Ensembl.	1
Natural variantⁱVAR_003216	204	H → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907976Ensembl.	1
Natural variantⁱVAR_003217	210	S → F in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907961Ensembl.	1
Natural variantⁱVAR_003218	211	F → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907974Ensembl.	1
Natural variantⁱVAR_022440	226	S → F in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs769866128Ensembl.	1
Natural variantⁱVAR_003219	247	R → W in HEXA pseudodeficiency. 1 PublicationCorresponds to variant dbSNP:rs121907970Ensembl.	1
Natural variantⁱVAR_003220	249	R → W in HEXA pseudodeficiency. 2 PublicationsCorresponds to variant dbSNP:rs138058578Ensembl.	1
Natural variantⁱVAR_003221	250	G → D in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907959Ensembl.	1
Natural variantⁱVAR_003222	250	G → S in GM2G1. 1 Publication	1
Natural variantⁱVAR_003223	252	R → H in GM2G1. Corresponds to variant dbSNP:rs762255098Ensembl.	1
Natural variantⁱVAR_017188	252	R → L in GM2G1. 1 Publication	1
Natural variantⁱVAR_003224	258	D → H in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907971Ensembl.	1
Natural variantⁱVAR_022441	269	G → D in GM2G1. 1 Publication	1
Natural variantⁱVAR_003225	269	G → S in GM2G1; late onset; inhibited subunit dissociation; loss of processing to a mature form; increased degradation. 2 PublicationsCorresponds to variant dbSNP:rs121907954Ensembl.	1
Natural variantⁱVAR_003226	279	S → P in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_058477	293	S → I. Corresponds to variant dbSNP:rs1054374Ensembl.	1
Natural variantⁱVAR_017189	295	N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs199578185Ensembl.	1
Natural variantⁱVAR_003227	301	M → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907977Ensembl.	1
Natural variantⁱVAR_003228	304	Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication	1
Natural variantⁱVAR_022442	314	D → V in GM2G1. 1 Publication	1
Natural variantⁱVAR_003229	320	Missing in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_077498	322	D → N in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415Ensembl.	1
Natural variantⁱVAR_077499	322	D → Y in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415Ensembl.	1
Natural variantⁱVAR_003230	335	I → F in GM2G1. 1 Publication	1
Natural variantⁱVAR_003231	347 – 352	Missing in GM2G1. 1 Publication	6
Natural variantⁱVAR_003232	391	V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication	1
Natural variantⁱVAR_077500	393	R → P in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs370266293Ensembl.	1
Natural variantⁱVAR_003233	399	N → D1 PublicationCorresponds to variant dbSNP:rs1800430Ensembl.	1
Natural variantⁱVAR_003234	420	W → C in GM2G1; infantile; inactive protein. 2 PublicationsCorresponds to variant dbSNP:rs121907958Ensembl.	1
Natural variantⁱVAR_003235	436	I → VCombined sources8 PublicationsCorresponds to variant dbSNP:rs1800431Ensembl.	1
Natural variantⁱVAR_003236	454	G → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907978Ensembl.	1
Natural variantⁱVAR_003237	455	G → R in GM2G1; late infantile. 1 Publication	1
Natural variantⁱVAR_003238	458	C → Y in GM2G1; infantile. 1 Publication	1
Natural variantⁱVAR_077501	462	E → V in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs863225434Ensembl.	1
Natural variantⁱVAR_003239	474	W → C in GM2G1; subacute. 1 PublicationCorresponds to variant dbSNP:rs121907981Ensembl.	1
Natural variantⁱVAR_077502	478	G → R in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057519467Ensembl.	1
Natural variantⁱVAR_003240	482	E → K in GM2G1; infantile; loss of processing to a mature form; increased degradation. 3 PublicationsCorresponds to variant dbSNP:rs121907952Ensembl.	1
Natural variantⁱVAR_003241	484	L → Q in GM2G1; infantile. 1 Publication	1
Natural variantⁱVAR_003242	485	W → R in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907968Ensembl.	1
Natural variantⁱVAR_003243	499	R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907966Ensembl.	1
Natural variantⁱVAR_003244	499	R → H in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907956Ensembl.	1
Natural variantⁱVAR_003245	504	R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs28942071Ensembl.	1
Natural variantⁱVAR_003246	504	R → H in GM2G1; juvenile; fails to associate with the beta-subunit to form the enzymatically active heterodimer. 1 PublicationCorresponds to variant dbSNP:rs121907955Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_056657	1 – 192	Missing in isoform 2. 1 PublicationAdd BLAST	192
Alternative sequenceⁱVSP_056658	359 – 360	LL → YP in isoform 2. 1 Publication	2
Alternative sequenceⁱVSP_056659	361 – 529	Missing in isoform 2. 1 PublicationAdd BLAST	169

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS10243.1 [P06865-1]
PIRⁱ	A23561 AOHUBA
NCBI Reference Sequences More...RefSeqⁱ	NP_000511.2, NM_000520.5 [P06865-1] NP_001305754.1, NM_001318825.1
UniGeneⁱ	Hs.604479 Hs.709495

Genome annotation databases

Ensemblⁱ	ENST00000268097; ENSP00000268097; ENSG00000213614 [P06865-1]
GeneIDⁱ	3073
KEGGⁱ	hsa:3073
UCSC genome browser More...UCSCⁱ	uc002aun.5 human [P06865-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P06865	A0A0S2Z3W3 H3BS10	Homo sapiens (Human)	529	UniRef100_P06865	Cluster: Beta-hexosaminidase subunit alpha	3
P06865-2	H3BU85	Homo sapiens (Human)	168	UniRef100_P06865-2	Cluster: Isoform 2 of Beta-hexosaminidase subunit alpha	2

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P06865	A0A0S2Z3W3 H3BS10 UPI00045E40CF UPI00045DE916 UPI00045D8766 UPI00045DC419 A0A2K6RNK0 UPI0005331526 F7GQ07 UPI0008F50F7F +51	Homo sapiens (Human) Chlorocebus sabaeus (Green monkey) (Cercopithecus sabaeus) Rhinopithecus roxellana (Golden snub-nosed monkey) (Pygathrix roxellana) Macaca mulatta (Rhesus macaque) Gorilla gorilla gorilla (Western lowland gorilla) Aotus nancymaae (Ma's night monkey) Mandrillus leucophaeus (Drill) (Papio leucophaeus) Macaca fascicularis (Crab-eating macaque) (Cynomolgus monkey) Cercocebus atys (Sooty mangabey) (Cercocebus torquatus atys) Callithrix jacchus (White-tufted-ear marmoset) And more	529	UniRef90_P06865	Cluster: Beta-hexosaminidase subunit alpha	62
P06865-2	H3BU85 H3BTD4 F7GCB0 A0A2K5Q2Z0 A0A2J8UCR1 A0A2J8UCR2	Homo sapiens (Human) Macaca mulatta (Rhesus macaque) Cebus capucinus imitator Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii)	168	UniRef90_P06865-2	Cluster: Isoform 2 of Beta-hexosaminidase subunit alpha	7

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
P06865	A0A0S2Z3W3 H3BS10 UPI00045E40CF UPI00045DE916 UPI00045D8766 UPI00045DC419 A0A2K6RNK0 UPI0005331526 F7GQ07 UPI0008F50F7F +438	Homo sapiens (Human) Chlorocebus sabaeus (Green monkey) (Cercopithecus sabaeus) Rhinopithecus roxellana (Golden snub-nosed monkey) (Pygathrix roxellana) Macaca mulatta (Rhesus macaque) Gorilla gorilla gorilla (Western lowland gorilla) Aotus nancymaae (Ma's night monkey) Macaca fascicularis (Crab-eating macaque) (Cynomolgus monkey) Cercocebus atys (Sooty mangabey) (Cercocebus torquatus atys) Colobus angolensis palliatus (Peters' Angolan colobus) Callithrix jacchus (White-tufted-ear marmoset) And more	529	UniRef50_P06865	Cluster: Beta-hexosaminidase subunit alpha	449
P06865-2	H3BU85 H3BTD4 A0A2J8UCR1 A0A2K5Q2Z0 F7GCB0 A0A2J8UCR2 UPI00063F9516 A0A2K6ETD5	Homo sapiens (Human) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Cebus capucinus imitator Macaca mulatta (Rhesus macaque) Propithecus coquereli (Coquerel's sifaka) (Propithecus verreauxi coquereli)	168	UniRef50_P06865-2	Cluster: Isoform 2 of Beta-hexosaminidase subunit alpha	9

BindingDBⁱ	P06865
ChEMBLⁱ	CHEMBL1250415
SwissLipidsⁱ	SLP:000001416 [P06865-1]

Carbohydrate-Active enZymes More...CAZyⁱ	GH20 Glycoside Hydrolase Family 20

The DNASU plasmid repository More...DNASUⁱ	3073
Structural Biology Knowledgebase	Search...

CTDⁱ	3073
DisGeNET More...DisGeNETⁱ	3073
EuPathDBⁱ	HostDB:ENSG00000213614.9
GeneCardsⁱ	HEXA
GeneReviewsⁱ	HEXA
H-InvDBⁱ	HIX0012407
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4878 HEXA
Human Protein Atlas More...HPAⁱ	HPA054583
MalaCards human disease database More...MalaCardsⁱ	HEXA
MIMⁱ	272800 phenotype 606869 gene
neXtProtⁱ	NX_P06865
Open Targets More...OpenTargetsⁱ	ENSG00000213614
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

ChiTaRSⁱ	HEXA human
EvolutionaryTraceⁱ	P06865
GeneWikiⁱ	HEXA
GenomeRNAiⁱ	3073
Protein Ontology More...PROⁱ	PR:P06865
SOURCEⁱ	Search...

Entry informationⁱ

Entry nameⁱ	HEXA_HUMAN
Accessionⁱ	P06865Primary (citable) accession number: P06865 Secondary accession number(s): B4DKE7 , E7ENH7, Q53HS8, Q6AI32
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 1, 1988
	Last sequence update:	November 2, 2010
	Last modified:	February 28, 2018
	This is version 209 of the entry and version 2 of the sequence. See 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

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UniProtKB - P06865 (HEXA_HUMAN)

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Beta-hexosaminidase subunit alpha

HEXA

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

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Functionⁱ

GO - Molecular functionⁱ

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PTM / Processingⁱ

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GO - Molecular functionⁱ

Structureⁱ

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Web resourcesⁱ

Entry informationⁱ

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