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Protein

Beta-hexosaminidase subunit alpha

Gene

HEXA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

Catalytic activityi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei323 – 3231Proton donorBy similarity

GO - Molecular functioni

  • acetylglucosaminyltransferase activity Source: UniProtKB
  • beta-N-acetylhexosaminidase activity Source: Reactome
  • protein heterodimerization activity Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000140495-MONOMER.
BRENDAi3.2.1.169. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-2022857. Keratan sulfate degradation.
R-HSA-2024101. CS/DS degradation.
R-HSA-2160916. Hyaluronan uptake and degradation.
SABIO-RKP06865.

Protein family/group databases

CAZyiGH20. Glycoside Hydrolase Family 20.

Chemistry

SwissLipidsiSLP: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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:4878. HEXA.

Subcellular locationi

GO - Cellular componenti

  • azurophil granule Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • lysosomal lumen Source: Reactome
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

GM2-gangliosidosis 1 (GM2G1)22 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251P → S in GM2G1; late infantile. 1 Publication
VAR_003202
Natural varianti39 – 391L → R in GM2G1; infantile.
Corresponds to variant rs121907979 [ dbSNP | Ensembl ].
VAR_003203
Natural varianti127 – 1271L → F in GM2G1. 1 Publication
VAR_022439
Natural varianti127 – 1271L → R in GM2G1; infantile.
Corresponds to variant rs121907975 [ dbSNP | Ensembl ].
VAR_003204
Natural varianti166 – 1661R → G in GM2G1; late infantile. 1 Publication
VAR_003205
Natural varianti170 – 1701R → Q in GM2G1; infantile; inactive or unstable protein. 1 Publication
Corresponds to variant rs121907957 [ dbSNP | Ensembl ].
VAR_003206
Natural varianti170 – 1701R → W in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907972 [ dbSNP | Ensembl ].
VAR_003207
Natural varianti178 – 1781R → C in GM2G1; infantile; inactive protein.
Corresponds to variant rs121907953 [ dbSNP | Ensembl ].
VAR_003208
Natural varianti178 – 1781R → H in GM2G1; infantile; inactive protein.
Corresponds to variant rs28941770 [ dbSNP | Ensembl ].
VAR_003209
Natural varianti178 – 1781R → L in GM2G1; infantile.
Corresponds to variant rs28941770 [ dbSNP | Ensembl ].
VAR_003210
Natural varianti180 – 1801Y → H in GM2G1. 1 Publication
Corresponds to variant rs28941771 [ dbSNP | Ensembl ].
VAR_003211
Natural varianti192 – 1921V → L in GM2G1; infantile.
VAR_003212
Natural varianti196 – 1961N → S in GM2G1. 1 Publication
Corresponds to variant rs753862880 [ dbSNP | Ensembl ].
VAR_003213
Natural varianti197 – 1971K → T in GM2G1.
Corresponds to variant rs121907973 [ dbSNP | Ensembl ].
VAR_003214
Natural varianti200 – 2001V → M in GM2G1.
Corresponds to variant rs1800429 [ dbSNP | Ensembl ].
VAR_003215
Natural varianti204 – 2041H → R in GM2G1; infantile.
Corresponds to variant rs121907976 [ dbSNP | Ensembl ].
VAR_003216
Natural varianti210 – 2101S → F in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907961 [ dbSNP | Ensembl ].
VAR_003217
Natural varianti211 – 2111F → S in GM2G1; infantile.
Corresponds to variant rs121907974 [ dbSNP | Ensembl ].
VAR_003218
Natural varianti226 – 2261S → F in GM2G1. 1 Publication
Corresponds to variant rs769866128 [ dbSNP | Ensembl ].
VAR_022440
Natural varianti250 – 2501G → D in GM2G1; juvenile. 1 Publication
Corresponds to variant rs121907959 [ dbSNP | Ensembl ].
VAR_003221
Natural varianti250 – 2501G → S in GM2G1. 1 Publication
VAR_003222
Natural varianti252 – 2521R → H in GM2G1.
Corresponds to variant rs762255098 [ dbSNP | Ensembl ].
VAR_003223
Natural varianti252 – 2521R → L in GM2G1. 1 Publication
VAR_017188
Natural varianti258 – 2581D → H in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907971 [ dbSNP | Ensembl ].
VAR_003224
Natural varianti269 – 2691G → D in GM2G1. 1 Publication
VAR_022441
Natural varianti269 – 2691G → S in GM2G1; late onset; inhibited subunit dissociation. 1 Publication
Corresponds to variant rs121907954 [ dbSNP | Ensembl ].
VAR_003225
Natural varianti279 – 2791S → P in GM2G1; late infantile. 1 Publication
VAR_003226
Natural varianti295 – 2951N → S in GM2G1. 1 Publication
Corresponds to variant rs199578185 [ dbSNP | Ensembl ].
VAR_017189
Natural varianti301 – 3011M → R in GM2G1; infantile.
Corresponds to variant rs121907977 [ dbSNP | Ensembl ].
VAR_003227
Natural varianti304 – 3041Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication
VAR_003228
Natural varianti314 – 3141D → V in GM2G1. 1 Publication
VAR_022442
Natural varianti320 – 3201Missing in GM2G1; late infantile. 1 Publication
VAR_003229
Natural varianti335 – 3351I → F in GM2G1. 1 Publication
VAR_003230
Natural varianti347 – 3526Missing in GM2G1. 1 Publication
VAR_003231
Natural varianti391 – 3911V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication
VAR_003232
Natural varianti420 – 4201W → C in GM2G1; infantile; inactive protein. 2 Publications
Corresponds to variant rs121907958 [ dbSNP | Ensembl ].
VAR_003234
Natural varianti454 – 4541G → S in GM2G1; infantile.
Corresponds to variant rs121907978 [ dbSNP | Ensembl ].
VAR_003236
Natural varianti455 – 4551G → R in GM2G1; late infantile. 1 Publication
VAR_003237
Natural varianti458 – 4581C → Y in GM2G1; infantile. 1 Publication
VAR_003238
Natural varianti474 – 4741W → C in GM2G1; subacute. 1 Publication
Corresponds to variant rs121907981 [ dbSNP | Ensembl ].
VAR_003239
Natural varianti482 – 4821E → K in GM2G1; infantile. 2 Publications
Corresponds to variant rs121907952 [ dbSNP | Ensembl ].
VAR_003240
Natural varianti484 – 4841L → Q in GM2G1; infantile. 1 Publication
VAR_003241
Natural varianti485 – 4851W → R in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907968 [ dbSNP | Ensembl ].
VAR_003242
Natural varianti499 – 4991R → C in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907966 [ dbSNP | Ensembl ].
VAR_003243
Natural varianti499 – 4991R → H in GM2G1; juvenile. 1 Publication
Corresponds to variant rs121907956 [ dbSNP | Ensembl ].
VAR_003244
Natural varianti504 – 5041R → C in GM2G1; infantile. 1 Publication
Corresponds to variant rs28942071 [ dbSNP | Ensembl ].
VAR_003245
Natural varianti504 – 5041R → H in GM2G1; juvenile; inhibited subunit dissociation.
Corresponds to variant rs121907955 [ dbSNP | Ensembl ].
VAR_003246

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi115 – 1151N → 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
Mutagenesisi157 – 1571N → 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
Mutagenesisi295 – 2951N → 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

Keywords - Diseasei

Disease mutation, Gangliosidosis, Neurodegeneration

Organism-specific databases

MalaCardsiHEXA.
MIMi272800. phenotype.
Orphaneti309192. 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.
PharmGKBiPA29256.

Chemistry

ChEMBLiCHEMBL3038485.

Polymorphism and mutation databases

BioMutaiHEXA.
DMDMi311033393.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 22221 PublicationAdd
BLAST
Propeptidei23 – 88661 PublicationPRO_0000011993Add
BLAST
Chaini89 – 529441Beta-hexosaminidase subunit alphaPRO_0000011994Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi58 ↔ 1041 Publication
Glycosylationi115 – 1151N-linked (GlcNAc...)2 Publications
Glycosylationi157 – 1571N-linked (GlcNAc...)3 Publications
Disulfide bondi277 ↔ 3281 Publication
Glycosylationi295 – 2951N-linked (GlcNAc...)3 Publications
Disulfide bondi505 ↔ 5221 Publication

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

EPDiP06865.
MaxQBiP06865.
PaxDbiP06865.
PeptideAtlasiP06865.
PRIDEiP06865.

PTM databases

iPTMnetiP06865.
PhosphoSiteiP06865.
SwissPalmiP06865.

Expressioni

Gene expression databases

BgeeiENSG00000213614.
CleanExiHS_HEXA.
ExpressionAtlasiP06865. baseline and differential.
GenevisibleiP06865. HS.

Organism-specific databases

HPAiHPA054583.

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

GO - Molecular functioni

  • protein heterodimerization activity Source: MGI

Protein-protein interaction databases

BioGridi109322. 37 interactions.
IntActiP06865. 14 interactions.
MINTiMINT-1393072.
STRINGi9606.ENSP00000268097.

Chemistry

BindingDBiP06865.

Structurei

Secondary structure

1
529
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi28 – 314Combined sources
Beta strandi36 – 394Combined sources
Turni41 – 433Combined sources
Beta strandi45 – 484Combined sources
Helixi59 – 7315Combined sources
Beta strandi93 – 1008Combined sources
Beta strandi104 – 1063Combined sources
Beta strandi116 – 1238Combined sources
Beta strandi125 – 1317Combined sources
Helixi132 – 14514Combined sources
Beta strandi146 – 1483Combined sources
Beta strandi154 – 1574Combined sources
Beta strandi159 – 1635Combined sources
Beta strandi168 – 1758Combined sources
Turni176 – 1783Combined sources
Helixi183 – 19513Combined sources
Beta strandi200 – 2045Combined sources
Beta strandi216 – 2183Combined sources
Helixi220 – 2256Combined sources
Beta strandi226 – 2283Combined sources
Turni229 – 2313Combined sources
Helixi236 – 24813Combined sources
Beta strandi252 – 2565Combined sources
Beta strandi260 – 2623Combined sources
Turni264 – 2696Combined sources
Beta strandi274 – 29017Combined sources
Helixi295 – 31117Combined sources
Beta strandi314 – 3185Combined sources
Helixi327 – 3315Combined sources
Helixi333 – 3419Combined sources
Helixi349 – 36416Combined sources
Turni365 – 3673Combined sources
Beta strandi369 – 3735Combined sources
Helixi374 – 3785Combined sources
Beta strandi388 – 3914Combined sources
Beta strandi394 – 3985Combined sources
Helixi400 – 40910Combined sources
Beta strandi413 – 4164Combined sources
Beta strandi426 – 4283Combined sources
Helixi431 – 4366Combined sources
Helixi446 – 4494Combined sources
Beta strandi452 – 4598Combined sources
Turni466 – 4683Combined sources
Helixi469 – 4735Combined sources
Helixi476 – 48510Combined sources
Helixi493 – 50917Combined sources
Beta strandi517 – 5193Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1QBCmodel-A109-529[»]
2GJXX-ray2.80A/D/E/H23-529[»]
2GK1X-ray3.25A/C/E/G23-529[»]
ProteinModelPortaliP06865.
SMRiP06865. Positions 23-528.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP06865.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni423 – 4242Critical for hydrolyzis GM2 gangliosides

Sequence similaritiesi

Belongs to the glycosyl hydrolase 20 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2499. Eukaryota.
COG3525. LUCA.
GeneTreeiENSGT00390000008107.
HOGENOMiHOG000157972.
HOVERGENiHBG005961.
InParanoidiP06865.
KOiK12373.
PhylomeDBiP06865.
TreeFamiTF313036.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
3.30.379.10. 1 hit.
InterProiIPR025705. Beta_hexosaminidase_sua/sub.
IPR029018. Chitobiase/Hex_dom_2-like.
IPR015883. Glyco_hydro_20_cat.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR029019. HEX_eukaryotic_N.
[Graphical view]
PfamiPF00728. Glyco_hydro_20. 1 hit.
PF14845. Glycohydro_20b2. 1 hit.
[Graphical view]
PIRSFiPIRSF001093. B-hxosamndse_ab_euk_. 1 hit.
PRINTSiPR00738. GLHYDRLASE20.
SUPFAMiSSF51445. 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. AlignAdd to basket

Isoform 1 (identifier: P06865-1) [UniParc]FASTAAdd 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
GO
Isoform 2 (identifier: P06865-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:168
Mass (Da):19,326
Checksum:i58E9CE3F7F778082
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti331 – 3311S → P in BAD96222 (Ref. 5) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251P → S in GM2G1; late infantile. 1 Publication
VAR_003202
Natural varianti39 – 391L → R in GM2G1; infantile.
Corresponds to variant rs121907979 [ dbSNP | Ensembl ].
VAR_003203
Natural varianti127 – 1271L → F in GM2G1. 1 Publication
VAR_022439
Natural varianti127 – 1271L → R in GM2G1; infantile.
Corresponds to variant rs121907975 [ dbSNP | Ensembl ].
VAR_003204
Natural varianti166 – 1661R → G in GM2G1; late infantile. 1 Publication
VAR_003205
Natural varianti170 – 1701R → Q in GM2G1; infantile; inactive or unstable protein. 1 Publication
Corresponds to variant rs121907957 [ dbSNP | Ensembl ].
VAR_003206
Natural varianti170 – 1701R → W in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907972 [ dbSNP | Ensembl ].
VAR_003207
Natural varianti178 – 1781R → C in GM2G1; infantile; inactive protein.
Corresponds to variant rs121907953 [ dbSNP | Ensembl ].
VAR_003208
Natural varianti178 – 1781R → H in GM2G1; infantile; inactive protein.
Corresponds to variant rs28941770 [ dbSNP | Ensembl ].
VAR_003209
Natural varianti178 – 1781R → L in GM2G1; infantile.
Corresponds to variant rs28941770 [ dbSNP | Ensembl ].
VAR_003210
Natural varianti180 – 1801Y → H in GM2G1. 1 Publication
Corresponds to variant rs28941771 [ dbSNP | Ensembl ].
VAR_003211
Natural varianti192 – 1921V → L in GM2G1; infantile.
VAR_003212
Natural varianti196 – 1961N → S in GM2G1. 1 Publication
Corresponds to variant rs753862880 [ dbSNP | Ensembl ].
VAR_003213
Natural varianti197 – 1971K → T in GM2G1.
Corresponds to variant rs121907973 [ dbSNP | Ensembl ].
VAR_003214
Natural varianti200 – 2001V → M in GM2G1.
Corresponds to variant rs1800429 [ dbSNP | Ensembl ].
VAR_003215
Natural varianti204 – 2041H → R in GM2G1; infantile.
Corresponds to variant rs121907976 [ dbSNP | Ensembl ].
VAR_003216
Natural varianti210 – 2101S → F in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907961 [ dbSNP | Ensembl ].
VAR_003217
Natural varianti211 – 2111F → S in GM2G1; infantile.
Corresponds to variant rs121907974 [ dbSNP | Ensembl ].
VAR_003218
Natural varianti226 – 2261S → F in GM2G1. 1 Publication
Corresponds to variant rs769866128 [ dbSNP | Ensembl ].
VAR_022440
Natural varianti247 – 2471R → W in HEXA pseudodeficiency. 1 Publication
Corresponds to variant rs121907970 [ dbSNP | Ensembl ].
VAR_003219
Natural varianti249 – 2491R → W in HEXA pseudodeficiency. 2 Publications
Corresponds to variant rs138058578 [ dbSNP | Ensembl ].
VAR_003220
Natural varianti250 – 2501G → D in GM2G1; juvenile. 1 Publication
Corresponds to variant rs121907959 [ dbSNP | Ensembl ].
VAR_003221
Natural varianti250 – 2501G → S in GM2G1. 1 Publication
VAR_003222
Natural varianti252 – 2521R → H in GM2G1.
Corresponds to variant rs762255098 [ dbSNP | Ensembl ].
VAR_003223
Natural varianti252 – 2521R → L in GM2G1. 1 Publication
VAR_017188
Natural varianti258 – 2581D → H in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907971 [ dbSNP | Ensembl ].
VAR_003224
Natural varianti269 – 2691G → D in GM2G1. 1 Publication
VAR_022441
Natural varianti269 – 2691G → S in GM2G1; late onset; inhibited subunit dissociation. 1 Publication
Corresponds to variant rs121907954 [ dbSNP | Ensembl ].
VAR_003225
Natural varianti279 – 2791S → P in GM2G1; late infantile. 1 Publication
VAR_003226
Natural varianti293 – 2931S → I.
Corresponds to variant rs1054374 [ dbSNP | Ensembl ].
VAR_058477
Natural varianti295 – 2951N → S in GM2G1. 1 Publication
Corresponds to variant rs199578185 [ dbSNP | Ensembl ].
VAR_017189
Natural varianti301 – 3011M → R in GM2G1; infantile.
Corresponds to variant rs121907977 [ dbSNP | Ensembl ].
VAR_003227
Natural varianti304 – 3041Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication
VAR_003228
Natural varianti314 – 3141D → V in GM2G1. 1 Publication
VAR_022442
Natural varianti320 – 3201Missing in GM2G1; late infantile. 1 Publication
VAR_003229
Natural varianti335 – 3351I → F in GM2G1. 1 Publication
VAR_003230
Natural varianti347 – 3526Missing in GM2G1. 1 Publication
VAR_003231
Natural varianti391 – 3911V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication
VAR_003232
Natural varianti399 – 3991N → D.1 Publication
Corresponds to variant rs1800430 [ dbSNP | Ensembl ].
VAR_003233
Natural varianti420 – 4201W → C in GM2G1; infantile; inactive protein. 2 Publications
Corresponds to variant rs121907958 [ dbSNP | Ensembl ].
VAR_003234
Natural varianti436 – 4361I → V.Combined sources8 Publications
Corresponds to variant rs1800431 [ dbSNP | Ensembl ].
VAR_003235
Natural varianti454 – 4541G → S in GM2G1; infantile.
Corresponds to variant rs121907978 [ dbSNP | Ensembl ].
VAR_003236
Natural varianti455 – 4551G → R in GM2G1; late infantile. 1 Publication
VAR_003237
Natural varianti458 – 4581C → Y in GM2G1; infantile. 1 Publication
VAR_003238
Natural varianti474 – 4741W → C in GM2G1; subacute. 1 Publication
Corresponds to variant rs121907981 [ dbSNP | Ensembl ].
VAR_003239
Natural varianti482 – 4821E → K in GM2G1; infantile. 2 Publications
Corresponds to variant rs121907952 [ dbSNP | Ensembl ].
VAR_003240
Natural varianti484 – 4841L → Q in GM2G1; infantile. 1 Publication
VAR_003241
Natural varianti485 – 4851W → R in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907968 [ dbSNP | Ensembl ].
VAR_003242
Natural varianti499 – 4991R → C in GM2G1; infantile. 1 Publication
Corresponds to variant rs121907966 [ dbSNP | Ensembl ].
VAR_003243
Natural varianti499 – 4991R → H in GM2G1; juvenile. 1 Publication
Corresponds to variant rs121907956 [ dbSNP | Ensembl ].
VAR_003244
Natural varianti504 – 5041R → C in GM2G1; infantile. 1 Publication
Corresponds to variant rs28942071 [ dbSNP | Ensembl ].
VAR_003245
Natural varianti504 – 5041R → H in GM2G1; juvenile; inhibited subunit dissociation.
Corresponds to variant rs121907955 [ dbSNP | Ensembl ].
VAR_003246

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 192192Missing in isoform 2. 1 PublicationVSP_056657Add
BLAST
Alternative sequencei359 – 3602LL → YP in isoform 2. 1 PublicationVSP_056658
Alternative sequencei361 – 529169Missing in isoform 2. 1 PublicationVSP_056659Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M16424
, M16411, M16412, M16413, M16414, M16415, M16416, M16417, M16418, M16419, M16420, M16421, M16422, M16423 Genomic DNA. Translation: AAB00965.1.
S62076
, S62047, S62049, S62051, S62053, S62055, S62057, S62059, S62061, S62063, S62066, S62068, S62070, 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.
CCDSiCCDS10243.1. [P06865-1]
PIRiA23561. AOHUBA.
RefSeqiNP_000511.2. NM_000520.5. [P06865-1]
NP_001305754.1. NM_001318825.1.
UniGeneiHs.604479.
Hs.709495.

Genome annotation databases

EnsembliENST00000268097; ENSP00000268097; ENSG00000213614. [P06865-1]
GeneIDi3073.
KEGGihsa:3073.
UCSCiuc002aun.5. human. [P06865-1]

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
, M16411, M16412, M16413, M16414, M16415, M16416, M16417, M16418, M16419, M16420, M16421, M16422, M16423 Genomic DNA. Translation: AAB00965.1.
S62076
, S62047, S62049, S62051, S62053, S62055, S62057, S62059, S62061, S62063, S62066, S62068, S62070, 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.
CCDSiCCDS10243.1. [P06865-1]
PIRiA23561. AOHUBA.
RefSeqiNP_000511.2. NM_000520.5. [P06865-1]
NP_001305754.1. NM_001318825.1.
UniGeneiHs.604479.
Hs.709495.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1QBCmodel-A109-529[»]
2GJXX-ray2.80A/D/E/H23-529[»]
2GK1X-ray3.25A/C/E/G23-529[»]
ProteinModelPortaliP06865.
SMRiP06865. Positions 23-528.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109322. 37 interactions.
IntActiP06865. 14 interactions.
MINTiMINT-1393072.
STRINGi9606.ENSP00000268097.

Chemistry

BindingDBiP06865.
ChEMBLiCHEMBL3038485.
SwissLipidsiSLP:000001416. [P06865-1]

Protein family/group databases

CAZyiGH20. Glycoside Hydrolase Family 20.

PTM databases

iPTMnetiP06865.
PhosphoSiteiP06865.
SwissPalmiP06865.

Polymorphism and mutation databases

BioMutaiHEXA.
DMDMi311033393.

Proteomic databases

EPDiP06865.
MaxQBiP06865.
PaxDbiP06865.
PeptideAtlasiP06865.
PRIDEiP06865.

Protocols and materials databases

DNASUi3073.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268097; ENSP00000268097; ENSG00000213614. [P06865-1]
GeneIDi3073.
KEGGihsa:3073.
UCSCiuc002aun.5. human. [P06865-1]

Organism-specific databases

CTDi3073.
GeneCardsiHEXA.
GeneReviewsiHEXA.
H-InvDBHIX0012407.
HGNCiHGNC:4878. HEXA.
HPAiHPA054583.
MalaCardsiHEXA.
MIMi272800. phenotype.
606869. gene.
neXtProtiNX_P06865.
Orphaneti309192. 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.
PharmGKBiPA29256.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2499. Eukaryota.
COG3525. LUCA.
GeneTreeiENSGT00390000008107.
HOGENOMiHOG000157972.
HOVERGENiHBG005961.
InParanoidiP06865.
KOiK12373.
PhylomeDBiP06865.
TreeFamiTF313036.

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000140495-MONOMER.
BRENDAi3.2.1.169. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-2022857. Keratan sulfate degradation.
R-HSA-2024101. CS/DS degradation.
R-HSA-2160916. Hyaluronan uptake and degradation.
SABIO-RKP06865.

Miscellaneous databases

EvolutionaryTraceiP06865.
GeneWikiiHEXA.
GenomeRNAii3073.
PROiP06865.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213614.
CleanExiHS_HEXA.
ExpressionAtlasiP06865. baseline and differential.
GenevisibleiP06865. HS.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
3.30.379.10. 1 hit.
InterProiIPR025705. Beta_hexosaminidase_sua/sub.
IPR029018. Chitobiase/Hex_dom_2-like.
IPR015883. Glyco_hydro_20_cat.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR029019. HEX_eukaryotic_N.
[Graphical view]
PfamiPF00728. Glyco_hydro_20. 1 hit.
PF14845. Glycohydro_20b2. 1 hit.
[Graphical view]
PIRSFiPIRSF001093. B-hxosamndse_ab_euk_. 1 hit.
PRINTSiPR00738. GLHYDRLASE20.
SUPFAMiSSF51445. SSF51445. 1 hit.
SSF55545. SSF55545. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiHEXA_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 197 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

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 one 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.