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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. EC:3.2.1.52

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei323Proton donorBy similarity1

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000140495-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.169 2681

Reactome - a knowledgebase of biological pathways and processes

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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
R-HSA-3656234 Defective HEXA causes GM2G1

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P06865

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH20 Glycoside Hydrolase Family 20

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001416 [P06865-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HEXA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000213614.9

Human Gene Nomenclature Database

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HGNCi
HGNC:4878 HEXA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606869 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P06865

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00320225P → S in GM2G1; late infantile. 1 Publication1
Natural variantiVAR_00320339L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907979EnsemblClinVar.1
Natural variantiVAR_077497114E → K in GM2G1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748190164EnsemblClinVar.1
Natural variantiVAR_022439127L → F in GM2G1. 1 Publication1
Natural variantiVAR_003204127L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907975EnsemblClinVar.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:rs121907957EnsemblClinVar.1
Natural variantiVAR_003207170R → W in GM2G1; infantile. 2 PublicationsCorresponds to variant dbSNP:rs121907972EnsemblClinVar.1
Natural variantiVAR_003208178R → C in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs121907953EnsemblClinVar.1
Natural variantiVAR_003209178R → H in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs28941770EnsemblClinVar.1
Natural variantiVAR_003210178R → L in GM2G1; infantile. Corresponds to variant dbSNP:rs28941770EnsemblClinVar.1
Natural variantiVAR_003211180Y → H in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs28941771EnsemblClinVar.1
Natural variantiVAR_003212192V → L in GM2G1; infantile. Corresponds to variant dbSNP:rs387906310EnsemblClinVar.1
Natural variantiVAR_003213196N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs753862880Ensembl.1
Natural variantiVAR_003214197K → T in GM2G1. Corresponds to variant dbSNP:rs121907973EnsemblClinVar.1
Natural variantiVAR_003215200V → M in GM2G1. Corresponds to variant dbSNP:rs1800429EnsemblClinVar.1
Natural variantiVAR_003216204H → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907976EnsemblClinVar.1
Natural variantiVAR_003217210S → F in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907961EnsemblClinVar.1
Natural variantiVAR_003218211F → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907974EnsemblClinVar.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:rs121907959EnsemblClinVar.1
Natural variantiVAR_003222250G → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057521137Ensembl.1
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:rs121907971EnsemblClinVar.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:rs121907954EnsemblClinVar.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:rs121907977EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs772180415EnsemblClinVar.1
Natural variantiVAR_077499322D → Y in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs370266293EnsemblClinVar.1
Natural variantiVAR_003234420W → C in GM2G1; infantile; inactive protein. 2 PublicationsCorresponds to variant dbSNP:rs121907958EnsemblClinVar.1
Natural variantiVAR_003236454G → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907978EnsemblClinVar.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:rs863225434EnsemblClinVar.1
Natural variantiVAR_003239474W → C in GM2G1; subacute. 1 PublicationCorresponds to variant dbSNP:rs121907981EnsemblClinVar.1
Natural variantiVAR_077502478G → R in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057519467Ensembl.1
Natural variantiVAR_003240482E → K in GM2G1; infantile; loss of processing to a mature form; increased degradation. 3 PublicationsCorresponds to variant dbSNP:rs121907952EnsemblClinVar.1
Natural variantiVAR_003241484L → Q in GM2G1; infantile. 1 Publication1
Natural variantiVAR_003242485W → R in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907968EnsemblClinVar.1
Natural variantiVAR_003243499R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907966EnsemblClinVar.1
Natural variantiVAR_003244499R → H in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907956EnsemblClinVar.1
Natural variantiVAR_003245504R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs28942071EnsemblClinVar.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:rs121907955EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
3073

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
HEXA

MalaCards human disease database

More...
MalaCardsi
HEXA
MIMi272800 phenotype

Open Targets

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OpenTargetsi
ENSG00000213614

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29256

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1250415

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HEXA

Domain mapping of disease mutations (DMDM)

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DMDMi
311033393

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 221 PublicationAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000001199323 – 881 PublicationAdd BLAST66
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001199489 – 529Beta-hexosaminidase subunit alphaAdd BLAST441

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi58 ↔ 1041 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi115N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi157N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi277 ↔ 3281 Publication
Glycosylationi295N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi505 ↔ 5221 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P06865

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P06865

MaxQB - The MaxQuant DataBase

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MaxQBi
P06865

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P06865

PeptideAtlas

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PeptideAtlasi
P06865

PRoteomics IDEntifications database

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PRIDEi
P06865

ProteomicsDB human proteome resource

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ProteomicsDBi
51937

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1038

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P06865

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P06865

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P06865

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000213614 Expressed in 225 organ(s), highest expression level in tendon of biceps brachii

CleanEx database of gene expression profiles

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CleanExi
HS_HEXA

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P06865 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P06865 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA054583

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
HEXBP076862EBI-723519,EBI-7133736

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109322, 38 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-502 Beta-hexosaminidase A complex
CPX-687 Beta-hexosaminidase S complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P06865

Protein interaction database and analysis system

More...
IntActi
P06865, 15 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000268097

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P06865

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1529
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1QBCmodel-A109-529[»]
2GJXX-ray2.80A/D/E/H23-529[»]
2GK1X-ray3.25A/C/E/G23-529[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P06865

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P06865

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P06865

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni423 – 424Critical for hydrolyzis GM2 gangliosides2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 20 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2499 Eukaryota
COG3525 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000008107

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000157972

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005961

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P06865

KEGG Orthology (KO)

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KOi
K12373

Database of Orthologous Groups

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OrthoDBi
545162at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P06865

TreeFam database of animal gene trees

More...
TreeFami
TF313036

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.379.10, 1 hit

Integrated resource of protein families, domains and functional sites

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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

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Pfami
View protein in Pfam
PF00728 Glyco_hydro_20, 1 hit
PF14845 Glycohydro_20b2, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF001093 B-hxosamndse_ab_euk_, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00738 GLHYDRLASE20

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51445 SSF51445, 1 hit
SSF55545 SSF55545, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BP20H3BP20_HUMAN
Beta-hexosaminidase
HEXA
540Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BS10H3BS10_HUMAN
Beta-hexosaminidase
HEXA
509Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BTD4H3BTD4_HUMAN
Beta-hexosaminidase subunit alpha
HEXA
373Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BU85H3BU85_HUMAN
Beta-hexosaminidase subunit alpha
HEXA
318Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BT62H3BT62_HUMAN
Beta-hexosaminidase subunit alpha
HEXA
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRP6H3BRP6_HUMAN
Beta-hexosaminidase subunit alpha
HEXA
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BVH8H3BVH8_HUMAN
Beta-hexosaminidase subunit alpha
HEXA
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BQ04H3BQ04_HUMAN
Beta-hexosaminidase subunit alpha
HEXA
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WTY2A0A087WTY2_HUMAN
Beta-hexosaminidase subunit alpha
HEXA
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs121907979EnsemblClinVar.1
Natural variantiVAR_077497114E → K in GM2G1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748190164EnsemblClinVar.1
Natural variantiVAR_022439127L → F in GM2G1. 1 Publication1
Natural variantiVAR_003204127L → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907975EnsemblClinVar.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:rs121907957EnsemblClinVar.1
Natural variantiVAR_003207170R → W in GM2G1; infantile. 2 PublicationsCorresponds to variant dbSNP:rs121907972EnsemblClinVar.1
Natural variantiVAR_003208178R → C in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs121907953EnsemblClinVar.1
Natural variantiVAR_003209178R → H in GM2G1; infantile; inactive protein. Corresponds to variant dbSNP:rs28941770EnsemblClinVar.1
Natural variantiVAR_003210178R → L in GM2G1; infantile. Corresponds to variant dbSNP:rs28941770EnsemblClinVar.1
Natural variantiVAR_003211180Y → H in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs28941771EnsemblClinVar.1
Natural variantiVAR_003212192V → L in GM2G1; infantile. Corresponds to variant dbSNP:rs387906310EnsemblClinVar.1
Natural variantiVAR_003213196N → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs753862880Ensembl.1
Natural variantiVAR_003214197K → T in GM2G1. Corresponds to variant dbSNP:rs121907973EnsemblClinVar.1
Natural variantiVAR_003215200V → M in GM2G1. Corresponds to variant dbSNP:rs1800429EnsemblClinVar.1
Natural variantiVAR_003216204H → R in GM2G1; infantile. Corresponds to variant dbSNP:rs121907976EnsemblClinVar.1
Natural variantiVAR_003217210S → F in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907961EnsemblClinVar.1
Natural variantiVAR_003218211F → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907974EnsemblClinVar.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:rs121907970EnsemblClinVar.1
Natural variantiVAR_003220249R → W in HEXA pseudodeficiency. 2 PublicationsCorresponds to variant dbSNP:rs138058578EnsemblClinVar.1
Natural variantiVAR_003221250G → D in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907959EnsemblClinVar.1
Natural variantiVAR_003222250G → S in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057521137Ensembl.1
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:rs121907971EnsemblClinVar.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:rs121907954EnsemblClinVar.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:rs121907977EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs772180415EnsemblClinVar.1
Natural variantiVAR_077499322D → Y in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs772180415EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs370266293EnsemblClinVar.1
Natural variantiVAR_003233399N → D1 PublicationCorresponds to variant dbSNP:rs1800430EnsemblClinVar.1
Natural variantiVAR_003234420W → C in GM2G1; infantile; inactive protein. 2 PublicationsCorresponds to variant dbSNP:rs121907958EnsemblClinVar.1
Natural variantiVAR_003235436I → VCombined sources8 PublicationsCorresponds to variant dbSNP:rs1800431EnsemblClinVar.1
Natural variantiVAR_003236454G → S in GM2G1; infantile. Corresponds to variant dbSNP:rs121907978EnsemblClinVar.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:rs863225434EnsemblClinVar.1
Natural variantiVAR_003239474W → C in GM2G1; subacute. 1 PublicationCorresponds to variant dbSNP:rs121907981EnsemblClinVar.1
Natural variantiVAR_077502478G → R in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1057519467Ensembl.1
Natural variantiVAR_003240482E → K in GM2G1; infantile; loss of processing to a mature form; increased degradation. 3 PublicationsCorresponds to variant dbSNP:rs121907952EnsemblClinVar.1
Natural variantiVAR_003241484L → Q in GM2G1; infantile. 1 Publication1
Natural variantiVAR_003242485W → R in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907968EnsemblClinVar.1
Natural variantiVAR_003243499R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs121907966EnsemblClinVar.1
Natural variantiVAR_003244499R → H in GM2G1; juvenile. 1 PublicationCorresponds to variant dbSNP:rs121907956EnsemblClinVar.1
Natural variantiVAR_003245504R → C in GM2G1; infantile. 1 PublicationCorresponds to variant dbSNP:rs28942071EnsemblClinVar.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:rs121907955EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS10243.1 [P06865-1]

Protein sequence database of the Protein Information Resource

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PIRi
A23561 AOHUBA

NCBI Reference Sequences

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RefSeqi
NP_000511.2, NM_000520.5 [P06865-1]
NP_001305754.1, NM_001318825.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.604479
Hs.709495

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000268097; ENSP00000268097; ENSG00000213614 [P06865-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3073

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3073

UCSC genome browser

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UCSCi
uc002aun.5 human [P06865-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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
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...

Protein-protein interaction databases

BioGridi109322, 38 interactors
ComplexPortaliCPX-502 Beta-hexosaminidase A complex
CPX-687 Beta-hexosaminidase S complex
CORUMiP06865
IntActiP06865, 15 interactors
STRINGi9606.ENSP00000268097

Chemistry databases

BindingDBiP06865
ChEMBLiCHEMBL1250415
SwissLipidsiSLP:000001416 [P06865-1]

Protein family/group databases

CAZyiGH20 Glycoside Hydrolase Family 20

PTM databases

GlyConnecti1038
iPTMnetiP06865
PhosphoSitePlusiP06865
SwissPalmiP06865

Polymorphism and mutation databases

BioMutaiHEXA
DMDMi311033393

Proteomic databases

EPDiP06865
jPOSTiP06865
MaxQBiP06865
PaxDbiP06865
PeptideAtlasiP06865
PRIDEiP06865
ProteomicsDBi51937

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3073
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3073
DisGeNETi3073
EuPathDBiHostDB:ENSG00000213614.9

GeneCards: human genes, protein and diseases

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GeneCardsi
HEXA
GeneReviewsiHEXA

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0012407
HGNCiHGNC:4878 HEXA
HPAiHPA054583
MalaCardsiHEXA
MIMi272800 phenotype
606869 gene
neXtProtiNX_P06865
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2499 Eukaryota
COG3525 LUCA
GeneTreeiENSGT00390000008107
HOGENOMiHOG000157972
HOVERGENiHBG005961
InParanoidiP06865
KOiK12373
OrthoDBi545162at2759
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
R-HSA-3656234 Defective HEXA causes GM2G1
SABIO-RKiP06865

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HEXA human
EvolutionaryTraceiP06865

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HEXA

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3073

Protein Ontology

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PROi
PR:P06865

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000213614 Expressed in 225 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_HEXA
ExpressionAtlasiP06865 baseline and differential
GenevisibleiP06865 HS

Family and domain databases

Gene3Di3.30.379.10, 1 hit
InterProiView 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
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHEXA_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P06865
Secondary accession number(s): B4DKE7
, E7ENH7, Q53HS8, Q6AI32
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1988
Last sequence update: November 2, 2010
Last modified: January 16, 2019
This is version 216 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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