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UniProtKB - P06865 (HEXA_HUMAN)

Entry version 234 (25 May 2022)
Sequence version 2 (02 Nov 2010)
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Protein

Beta-hexosaminidase subunit alpha

Gene

HEXA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

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

Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:9694901, PubMed:8672428, PubMed:8123671).

The isozyme S is as active as the isozyme A on the anionic bis-sulfated glycans, the chondroitin-6-sulfate trisaccharide (C6S-3), and the dermatan sulfate pentasaccharide, and the sulfated glycosphingolipid SM2 (PubMed:11707436).

The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436).

Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:9694901, PubMed:8672428, PubMed:8123671).

4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Addition of GM2A stimulates the hydrolysis of sulfated glycosphingolipid SM2 and the ganglioside GM2.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
Biological processLipid metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.2.1.169, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P06865

Reactome - a knowledgebase of biological pathways and processes

More...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

More...SABIO-RKi		P06865

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P06865

Protein family/group databases

Carbohydrate-Active enZymes

More...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%5Fand%5Ftaxonomy%5Fsection">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 alphaCurated (EC:3.2.1.524 Publications)
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%5Fand%5Ftaxonomy%5Fsection">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:HEXAImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:4878, HEXA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606869, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P06865

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000213614

<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

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 variants 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).
Related information in OMIM
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:rs753862880EnsemblClinVar.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:rs1057521137EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs121907980Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs121907960Ensembl.1
Natural variantiVAR_022442314D → V in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1555472696EnsemblClinVar.1
Natural variantiVAR_003229320Missing in GM2G1; late infantile. 1 PublicationCorresponds to variant dbSNP:rs797044434Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1555472604EnsemblClinVar.1
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:rs1057519467EnsemblClinVar.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%5Fand%5Fbiotech%5Fsection">'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 variant, Gangliosidosis, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		3073

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

More...GeneReviewsi		HEXA

MalaCards human disease database

More...MalaCardsi		HEXA
MIMi272800, phenotype

Open Targets

More...OpenTargetsi		ENSG00000213614

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

More...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

More...PharmGKBi		PA29256

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P06865, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1250415

DrugCentral

More...DrugCentrali		P06865

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HEXA

Domain mapping of disease mutations (DMDM)

More...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 Publication1 PublicationAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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 or proteolytic cleavage.<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 Publication1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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...) asparagine1 Publication2 Publications1
Glycosylationi157N-linked (GlcNAc...) asparagine1 Publication3 Publications1
Disulfide bondi277 ↔ 3281 Publication1 Publication
Glycosylationi295N-linked (GlcNAc...) asparagine1 Publication3 Publications1
Disulfide bondi505 ↔ 5221 Publication1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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 (PubMed:1533633, PubMed:16698036, PubMed:19159218) (Probable). N-linked glycan at Asn-157 consists of either GlcNAc or GlcNAc2-Man7-9. N-linked glycan at Asn-295 consists of either GlcNAc, GlcNAc-Fuc, or GlcNAc2-Man4 (Probable).1 Publication3 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P06865

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P06865

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P06865

MaxQB - The MaxQuant DataBase

More...MaxQBi		P06865

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

More...PaxDbi		P06865

PeptideAtlas

More...PeptideAtlasi		P06865

PRoteomics IDEntifications database

More...PRIDEi		P06865

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4455
51937 [P06865-1]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1038, 8 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P06865, 5 sites, 7 N-linked glycans (1 site), 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P06865

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

More...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

More...Bgeei		ENSG00000213614, Expressed in tendon of biceps brachii and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P06865, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P06865, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000213614, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

There are 3 beta-hexosaminidase isozymes: isozyme A (hexosaminidase A) is an heterodimer composed of one subunit alpha and one subunit beta (chain A and B); isozyme B (hexosaminidase B) is an homodimer of two beta subunits (two chains A and B); isozyme S (hexosaminidase S) is a homodimer of two alpha subunits (PubMed:16698036). The composition of the dimer (isozyme A versus isozyme S) has a significant effect on the substrate specificity of the alpha subunit active site (PubMed:8672428).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109322, 61 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

More...CORUMi		P06865

Protein interaction database and analysis system

More...IntActi		P06865, 17 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000268097

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P06865

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P06865, protein

<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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P06865

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

More...SMRi		P06865

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...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 hydrolysis 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

More...eggNOGi		KOG2499, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008107

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P06865

Identification of Orthologs from Complete Genome Data

More...OMAi		QYWVDHA

Database of Orthologous Groups

More...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

More...Gene3Di		3.30.379.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR22600, PTHR22600, 1 hit

Pfam protein domain database

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

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF001093, B-hxosamndse_ab_euk, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00738, GLHYDRLASE20

Superfamily database of structural and functional annotation

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 18 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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.

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

Annotation score:4 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:4 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-N-acetylhexosaminidase
HEXA
360Annotation score:

Annotation score:3 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-N-acetylhexosaminidase
HEXA
373Annotation score:

Annotation score:3 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>
A0A804HIQ5A0A804HIQ5_HUMAN
Beta-hexosaminidase
HEXA
485Annotation score:

Annotation score:3 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>
A0A804HKX5A0A804HKX5_HUMAN
Beta-N-acetylhexosaminidase
HEXA
473Annotation score:

Annotation score:3 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>
A0A804HLJ5A0A804HLJ5_HUMAN
Beta-N-acetylhexosaminidase
HEXA
474Annotation score:

Annotation score:3 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>
A0A804HIC8A0A804HIC8_HUMAN
Beta-N-acetylhexosaminidase
HEXA
390Annotation score:

Annotation score:3 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>
A0A804HJ97A0A804HJ97_HUMAN
Beta-N-acetylhexosaminidase
HEXA
257Annotation score:

Annotation score:3 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>
A0A804HIU3A0A804HIU3_HUMAN
Beta-N-acetylhexosaminidase
HEXA
358Annotation score:

Annotation score:3 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>
There are more potential isoformsShow all

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:rs753862880EnsemblClinVar.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:rs1057521137EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs121907980Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs121907960Ensembl.1
Natural variantiVAR_022442314D → V in GM2G1. 1 PublicationCorresponds to variant dbSNP:rs1555472696EnsemblClinVar.1
Natural variantiVAR_003229320Missing in GM2G1; late infantile. 1 PublicationCorresponds to variant dbSNP:rs797044434Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1555472604EnsemblClinVar.1
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:rs1057519467EnsemblClinVar.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.<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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M16424 M16423 Genomic DNA Translation: AAB00965.1
S62076 S62072 Genomic DNA Translation: AAD13932.1
AK296528 mRNA Translation: BAG59159.1
AK222502 mRNA Translation: BAD96222.1
CR627386 mRNA Translation: CAH10482.1
AC009690 Genomic DNA No translation available.
BC018927 mRNA Translation: AAH18927.1
BC084537 mRNA Translation: AAH84537.1
M13520 mRNA Translation: AAA51827.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10243.1 [P06865-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A23561, AOHUBA

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000268097.10; ENSP00000268097.6; ENSG00000213614.11

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3073

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3073

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000268097.10; ENSP00000268097.6; NM_000520.6; NP_000511.2

UCSC genome browser

More...UCSCi		uc002aun.5, human [P06865-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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 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
CCDSiCCDS10243.1 [P06865-1]
PIRiA23561, AOHUBA
RefSeqiNP_000511.2, NM_000520.5 [P06865-1]
NP_001305754.1, NM_001318825.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GJXX-ray2.80A/D/E/H23-529[»]
2GK1X-ray3.25A/C/E/G23-529[»]
AlphaFoldDBiP06865
SMRiP06865
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109322, 61 interactors
ComplexPortaliCPX-502, Beta-hexosaminidase A complex
CPX-687, Beta-hexosaminidase S complex
CORUMiP06865
IntActiP06865, 17 interactors
STRINGi9606.ENSP00000268097

Chemistry databases

BindingDBiP06865
ChEMBLiCHEMBL1250415
DrugCentraliP06865
SwissLipidsiSLP:000001416 [P06865-1]

Protein family/group databases

CAZyiGH20, Glycoside Hydrolase Family 20

PTM databases

GlyConnecti1038, 8 N-Linked glycans (1 site)
GlyGeniP06865, 5 sites, 7 N-linked glycans (1 site), 1 O-linked glycan (1 site)
iPTMnetiP06865
PhosphoSitePlusiP06865
SwissPalmiP06865

Genetic variation databases

BioMutaiHEXA
DMDMi311033393

Proteomic databases

EPDiP06865
jPOSTiP06865
MassIVEiP06865
MaxQBiP06865
PaxDbiP06865
PeptideAtlasiP06865
PRIDEiP06865
ProteomicsDBi4455
51937 [P06865-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26658, 500 antibodies from 32 providers

The DNASU plasmid repository

More...DNASUi		3073

Genome annotation databases

EnsembliENST00000268097.10; ENSP00000268097.6; ENSG00000213614.11
GeneIDi3073
KEGGihsa:3073
MANE-SelectiENST00000268097.10; ENSP00000268097.6; NM_000520.6; NP_000511.2
UCSCiuc002aun.5, human [P06865-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3073
DisGeNETi3073

GeneCards: human genes, protein and diseases

More...GeneCardsi		HEXA
GeneReviewsiHEXA
HGNCiHGNC:4878, HEXA
HPAiENSG00000213614, Low tissue specificity
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
VEuPathDBiHostDB:ENSG00000213614

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2499, Eukaryota
GeneTreeiENSGT00390000008107
InParanoidiP06865
OMAiQYWVDHA
OrthoDBi545162at2759
PhylomeDBiP06865
TreeFamiTF313036

Enzyme and pathway databases

BRENDAi3.2.1.169, 2681
PathwayCommonsiP06865
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
SignaLinkiP06865

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3073, 11 hits in 1077 CRISPR screens

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

More...ChiTaRSi		HEXA, human
EvolutionaryTraceiP06865

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HEXA

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

More...GenomeRNAii		3073
PharosiP06865, Tchem

Protein Ontology

More...PROi		PR:P06865
RNActiP06865, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000213614, Expressed in tendon of biceps brachii and 239 other tissues
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
PANTHERiPTHR22600, PTHR22600, 1 hit
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: May 25, 2022
This is version 234 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, 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 genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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