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UniProtKB - P06865 (HEXA_HUMAN)

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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)DescriptionActionsGraphical viewLength
Active sitei323Proton donorBy similarity1

GO - Molecular functioni

  • acetylglucosaminyltransferase activity Source: UniProtKB
  • beta-N-acetylhexosaminidase activity Source: Reactome
  • protein heterodimerization activity Source: MGI
Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionGlycosidase, 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-RKiP06865.

Protein family/group databases

CAZyiGH20. Glycoside Hydrolase Family 20.

Chemistry databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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)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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00320225P → S in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_00320339L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907979Ensembl.1
Natural variantiVAR_077497114E → K in GM2G1; unknown pathological significance. 1 Publication1
Natural variantiVAR_022439127L → F in GM2G1. 1 Publication1
Natural variantiVAR_003204127L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907975Ensembl.1
Natural variantiVAR_003205166R → G in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_003206170R → Q in GM2G1; infantile; inactive or unstable protein. 1 PublicationCorresponds to variant dbSNP:rs121907957Ensembl.1
Natural variantiVAR_003207170R → W in GM2G1; infantile. 2 PublicationsCorresponds to variant dbSNP:rs121907972Ensembl.1
Natural variantiVAR_003208178R → C in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs121907953Ensembl.1
Natural variantiVAR_003209178R → H in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs28941770Ensembl.1
Natural variantiVAR_003210178R → L in GM2G1; infantile. Corresponds to variant dbSNP:rs28941770Ensembl.1
Natural variantiVAR_003211180Y → H in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs28941771Ensembl.1
Natural variantiVAR_003212192V → L in GM2G1; infantile. Corresponds to variant dbSNP:rs387906310Ensembl.1
Natural variantiVAR_003213196N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs753862880Ensembl.1
Natural variantiVAR_003214197K → T in GM2G1. Corresponds to variant dbSNP:rs121907973Ensembl.1
Natural variantiVAR_003215200V → M in GM2G1. Corresponds to variant dbSNP:rs1800429Ensembl.1
Natural variantiVAR_003216204H → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907976Ensembl.1
Natural variantiVAR_003217210S → F in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907961Ensembl.1
Natural variantiVAR_003218211F → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907974Ensembl.1
Natural variantiVAR_022440226S → F in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs769866128Ensembl.1
Natural variantiVAR_003221250G → D in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907959Ensembl.1
Natural variantiVAR_003222250G → S in GM2G1. 1 Publication1
Natural variantiVAR_003223252R → H in GM2G1. Corresponds to variant dbSNP:rs762255098Ensembl.1
Natural variantiVAR_017188252R → L in GM2G1. 1 Publication1
Natural variantiVAR_003224258D → H in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907971Ensembl.1
Natural variantiVAR_022441269G → D in GM2G1. 1 Publication1
Natural variantiVAR_003225269G → 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_003226279S → P in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_017189295N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs199578185Ensembl.1
Natural variantiVAR_003227301M → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907977Ensembl.1
Natural variantiVAR_003228304Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication1
Natural variantiVAR_022442314D → V in GM2G1. 1 Publication1
Natural variantiVAR_003229320Missing in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_077498322D → N in GM2G1. 1 Publication1
Natural variantiVAR_077499322D → Y in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415Ensembl.1
Natural variantiVAR_003230335I → F in GM2G1. 1 Publication1
Natural variantiVAR_003231347 – 352Missing in GM2G1. 1 Publication6
Natural variantiVAR_003232391V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication1
Natural variantiVAR_077500393R → P in GM2G1. 1 Publication1
Natural variantiVAR_003234420W → C in GM2G1; infantile; inactive protein. 2 PublicationsCorresponds to variant dbSNP:rs121907958Ensembl.1
Natural variantiVAR_003236454G → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907978Ensembl.1
Natural variantiVAR_003237455G → R in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_003238458C → Y in GM2G1; infantile. 1 Publication1
Natural variantiVAR_077501462E → V in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs863225434Ensembl.1
Natural variantiVAR_003239474W → C in GM2G1; subacute. 1 PublicationCorresponds to variant dbSNP:rs121907981Ensembl.1
Natural variantiVAR_077502478G → R in GM2G1. 1 Publication1
Natural variantiVAR_003240482E → K in GM2G1; infantile; loss of processing to a mature form; increased degradation. 3 PublicationsCorresponds to variant dbSNP:rs121907952Ensembl.1
Natural variantiVAR_003241484L → Q in GM2G1; infantile. 1 Publication1
Natural variantiVAR_003242485W → R in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907968Ensembl.1
Natural variantiVAR_003243499R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907966Ensembl.1
Natural variantiVAR_003244499R → H in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907956Ensembl.1
Natural variantiVAR_003245504R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs28942071Ensembl.1
Natural variantiVAR_003246504R → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi115N → 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 Publication1
Mutagenesisi157N → 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 Publication1
Mutagenesisi295N → 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 Publication1

Keywords - Diseasei

Disease mutation, Gangliosidosis, Neurodegeneration

Organism-specific databases

DisGeNETi3073.
GeneReviewsiHEXA.
MalaCardsiHEXA.
MIMi272800. phenotype.
OpenTargetsiENSG00000213614.
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 databases

ChEMBLiCHEMBL1250415.

Polymorphism and mutation databases

BioMutaiHEXA.
DMDMi311033393.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 221 PublicationAdd BLAST22
PropeptideiPRO_000001199323 – 881 PublicationAdd BLAST66
ChainiPRO_000001199489 – 529Beta-hexosaminidase subunit alphaAdd BLAST441

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi58 ↔ 1041 Publication
Glycosylationi115N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi157N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi277 ↔ 3281 Publication
Glycosylationi295N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi505 ↔ 5221 Publication

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

EPDiP06865.
MaxQBiP06865.
PaxDbiP06865.
PeptideAtlasiP06865.
PRIDEiP06865.

PTM databases

iPTMnetiP06865.
PhosphoSitePlusiP06865.
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
Complete GO annotation...

Protein-protein interaction databases

BioGridi109322. 38 interactors.
IntActiP06865. 14 interactors.
MINTiMINT-1393072.
STRINGi9606.ENSP00000268097.

Chemistry databases

BindingDBiP06865.

Structurei

Secondary structure

1529
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi28 – 31Combined sources4
Beta strandi36 – 39Combined sources4
Turni41 – 43Combined sources3
Beta strandi45 – 48Combined sources4
Helixi59 – 73Combined sources15
Beta strandi93 – 100Combined sources8
Beta strandi104 – 106Combined sources3
Beta strandi116 – 123Combined sources8
Beta strandi125 – 131Combined sources7
Helixi132 – 145Combined sources14
Beta strandi146 – 148Combined sources3
Beta strandi154 – 157Combined sources4
Beta strandi159 – 163Combined sources5
Beta strandi168 – 175Combined sources8
Turni176 – 178Combined sources3
Helixi183 – 195Combined sources13
Beta strandi200 – 204Combined sources5
Beta strandi216 – 218Combined sources3
Helixi220 – 225Combined sources6
Beta strandi226 – 228Combined sources3
Turni229 – 231Combined sources3
Helixi236 – 248Combined sources13
Beta strandi252 – 256Combined sources5
Beta strandi260 – 262Combined sources3
Turni264 – 269Combined sources6
Beta strandi274 – 290Combined sources17
Helixi295 – 311Combined sources17
Beta strandi314 – 318Combined sources5
Helixi327 – 331Combined sources5
Helixi333 – 341Combined sources9
Helixi349 – 364Combined sources16
Turni365 – 367Combined sources3
Beta strandi369 – 373Combined sources5
Helixi374 – 378Combined sources5
Beta strandi388 – 391Combined sources4
Beta strandi394 – 398Combined sources5
Helixi400 – 409Combined sources10
Beta strandi413 – 416Combined sources4
Beta strandi426 – 428Combined sources3
Helixi431 – 436Combined sources6
Helixi446 – 449Combined sources4
Beta strandi452 – 459Combined sources8
Turni466 – 468Combined sources3
Helixi469 – 473Combined sources5
Helixi476 – 485Combined sources10
Helixi493 – 509Combined sources17
Beta strandi517 – 519Combined sources3

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiP06865.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni423 – 424Critical for hydrolyzis GM2 gangliosides2

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

InterProiView protein in InterPro
IPR025705. Beta_hexosaminidase_sua/sub.
IPR029018. Chitobiase/Hex_dom_2-like.
IPR015883. Glyco_hydro_20_cat.
IPR017853. Glycoside_hydrolase_SF.
IPR029019. HEX_eukaryotic_N.
PfamiView protein in Pfam
PF00728. Glyco_hydro_20. 1 hit.
PF14845. Glycohydro_20b2. 1 hit.
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)DescriptionActionsGraphical viewLength
Sequence conflicti331S → P in BAD96222 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00320225P → S in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_00320339L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907979Ensembl.1
Natural variantiVAR_077497114E → K in GM2G1; unknown pathological significance. 1 Publication1
Natural variantiVAR_022439127L → F in GM2G1. 1 Publication1
Natural variantiVAR_003204127L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907975Ensembl.1
Natural variantiVAR_003205166R → G in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_003206170R → Q in GM2G1; infantile; inactive or unstable protein. 1 PublicationCorresponds to variant dbSNP:rs121907957Ensembl.1
Natural variantiVAR_003207170R → W in GM2G1; infantile. 2 PublicationsCorresponds to variant dbSNP:rs121907972Ensembl.1
Natural variantiVAR_003208178R → C in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs121907953Ensembl.1
Natural variantiVAR_003209178R → H in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs28941770Ensembl.1
Natural variantiVAR_003210178R → L in GM2G1; infantile. Corresponds to variant dbSNP:rs28941770Ensembl.1
Natural variantiVAR_003211180Y → H in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs28941771Ensembl.1
Natural variantiVAR_003212192V → L in GM2G1; infantile. Corresponds to variant dbSNP:rs387906310Ensembl.1
Natural variantiVAR_003213196N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs753862880Ensembl.1
Natural variantiVAR_003214197K → T in GM2G1. Corresponds to variant dbSNP:rs121907973Ensembl.1
Natural variantiVAR_003215200V → M in GM2G1. Corresponds to variant dbSNP:rs1800429Ensembl.1
Natural variantiVAR_003216204H → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907976Ensembl.1
Natural variantiVAR_003217210S → F in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907961Ensembl.1
Natural variantiVAR_003218211F → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907974Ensembl.1
Natural variantiVAR_022440226S → F in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs769866128Ensembl.1
Natural variantiVAR_003219247R → W in HEXA pseudodeficiency. 1 PublicationCorresponds to variant dbSNP:rs121907970Ensembl.1
Natural variantiVAR_003220249R → W in HEXA pseudodeficiency. 2 PublicationsCorresponds to variant dbSNP:rs138058578Ensembl.1
Natural variantiVAR_003221250G → D in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907959Ensembl.1
Natural variantiVAR_003222250G → S in GM2G1. 1 Publication1
Natural variantiVAR_003223252R → H in GM2G1. Corresponds to variant dbSNP:rs762255098Ensembl.1
Natural variantiVAR_017188252R → L in GM2G1. 1 Publication1
Natural variantiVAR_003224258D → H in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907971Ensembl.1
Natural variantiVAR_022441269G → D in GM2G1. 1 Publication1
Natural variantiVAR_003225269G → 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_003226279S → P in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_058477293S → I. Corresponds to variant dbSNP:rs1054374Ensembl.1
Natural variantiVAR_017189295N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs199578185Ensembl.1
Natural variantiVAR_003227301M → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907977Ensembl.1
Natural variantiVAR_003228304Missing in GM2G1; infantile; Moroccan Jewish. 1 Publication1
Natural variantiVAR_022442314D → V in GM2G1. 1 Publication1
Natural variantiVAR_003229320Missing in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_077498322D → N in GM2G1. 1 Publication1
Natural variantiVAR_077499322D → Y in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415Ensembl.1
Natural variantiVAR_003230335I → F in GM2G1. 1 Publication1
Natural variantiVAR_003231347 – 352Missing in GM2G1. 1 Publication6
Natural variantiVAR_003232391V → M in GM2G1; mild; associated with spinal muscular atrophy. 1 Publication1
Natural variantiVAR_077500393R → P in GM2G1. 1 Publication1
Natural variantiVAR_003233399N → D1 PublicationCorresponds to variant dbSNP:rs1800430Ensembl.1
Natural variantiVAR_003234420W → C in GM2G1; infantile; inactive protein. 2 PublicationsCorresponds to variant dbSNP:rs121907958Ensembl.1
Natural variantiVAR_003235436I → VCombined sources8 PublicationsCorresponds to variant dbSNP:rs1800431Ensembl.1
Natural variantiVAR_003236454G → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907978Ensembl.1
Natural variantiVAR_003237455G → R in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_003238458C → Y in GM2G1; infantile. 1 Publication1
Natural variantiVAR_077501462E → V in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs863225434Ensembl.1
Natural variantiVAR_003239474W → C in GM2G1; subacute. 1 PublicationCorresponds to variant dbSNP:rs121907981Ensembl.1
Natural variantiVAR_077502478G → R in GM2G1. 1 Publication1
Natural variantiVAR_003240482E → K in GM2G1; infantile; loss of processing to a mature form; increased degradation. 3 PublicationsCorresponds to variant dbSNP:rs121907952Ensembl.1
Natural variantiVAR_003241484L → Q in GM2G1; infantile. 1 Publication1
Natural variantiVAR_003242485W → R in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907968Ensembl.1
Natural variantiVAR_003243499R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907966Ensembl.1
Natural variantiVAR_003244499R → H in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907956Ensembl.1
Natural variantiVAR_003245504R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs28942071Ensembl.1
Natural variantiVAR_003246504R → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0566571 – 192Missing in isoform 2. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_056658359 – 360LL → YP in isoform 2. 1 Publication2
Alternative sequenceiVSP_056659361 – 529Missing in isoform 2. 1 PublicationAdd BLAST169

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

Similar proteinsi

Entry informationi

Entry nameiHEXA_HUMAN
AccessioniPrimary (citable) accession number: P06865
Secondary accession number(s): B4DKE7
, E7ENH7, Q53HS8, Q6AI32
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1988
Last sequence update: November 2, 2010
Last modified: August 30, 2017
This is version 204 of the entry and version 2 of the sequence. See 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