UniProtKB - P06865 (HEXA_HUMAN)
(max 400 entries)x
Your basket is currently empty. i
Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)
Protein
Beta-hexosaminidase subunit alpha
Gene
HEXA
Organism
Homo sapiens (Human)
Status
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
- beta-N-acetylhexosaminidase activity Source: Reactome
- N-acetyl-beta-D-galactosaminidase activity Source: UniProtKB-EC
- protein heterodimerization activity Source: MGI
GO - Biological processi
- carbohydrate metabolic process Source: InterPro
- chondroitin sulfate catabolic process Source: Reactome
- glycosaminoglycan biosynthetic process Source: UniProtKB
- glycosphingolipid metabolic process Source: Reactome
- hyaluronan catabolic process Source: Reactome
- keratan sulfate catabolic process Source: Reactome
Keywordsi
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
CAZyi | GH20 Glycoside Hydrolase Family 20 |
Chemistry databases
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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000213614.9 |
HGNCi | HGNC:4878 HEXA |
MIMi | 606869 gene |
neXtProti | NX_P06865 |
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:272800Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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, NeurodegenerationOrganism-specific databases
DisGeNETi | 3073 |
GeneReviewsi | HEXA |
MalaCardsi | HEXA |
MIMi | 272800 phenotype |
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 |
Polymorphism and mutation databases
BioMutai | HEXA |
DMDMi | 311033393 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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, ZymogenProteomic databases
EPDi | P06865 |
MaxQBi | P06865 |
PaxDbi | P06865 |
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
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 |
GO - Molecular functioni
- protein heterodimerization activity Source: MGI
Protein-protein interaction databases
BioGridi | 10932238 interactors. |
CORUMi | P06865 |
IntActi | P06865 15 interactors. |
STRINGi | 9606.ENSP00000268097 |
Chemistry databases
BindingDBi | P06865 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | 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: PDBei RCSB PDBi 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 |
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
SignalPhylogenomic databases
eggNOGi | KOG2499 Eukaryota COG3525 LUCA |
GeneTreei | ENSGT00390000008107 |
HOGENOMi | HOG000157972 |
HOVERGENi | HBG005961 |
InParanoidi | P06865 |
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 |
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 |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative 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.
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
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 | Graphical view | 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 | Graphical view | 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 |
CCDSi | CCDS10243.1 [P06865-1] |
PIRi | A23561 AOHUBA |
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 |
UCSCi | uc002aun.5 human [P06865-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | HEXA_HUMAN | |
Accessioni | P06865Primary (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: | 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. |