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UniProtKB - Q8WVB3 (HEXD_HUMAN)

Entry version 131 (07 Oct 2020)
Sequence version 3 (05 Feb 2008)
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Protein

Hexosaminidase D

Gene

HEXD

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

Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates (PubMed:27149221).3 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

Inhibited by O-(2-acetamido-2-deoxy-D-glucopyranosylidene)amino N-phenylcarbamate (PUGNAc) (By similarity). Inhibited by galacto-NAG-thiazoline (PubMed:27149221).By similarity1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Kcats are 79.3 min(-1), 30.4 min(-1), 122 min(-1) and 92.4 min(-1) for PNP-GalNAc, PNP-GlcNAc, 3F4NP-GalNAc and 3F4NP-GlcNAc, respectively.1 Publication
  1. KM=0.0721 mM for 4-nitrophenyl N-acetylgalactosamine (PNP-GalNAc)1 Publication
  2. KM=0.607 mM for 4-nitrophenyl-N-acetylglucosamine (PNP-GlcNAc)1 Publication
  3. KM=0.172 mM for 3-fluoro-4-nitrophenyl-N-acetylgalactosamine (3F4NP-GalNAc)1 Publication
  4. KM=0.852 mM for 3-fluoro-4-nitrophenyl-N-acetylglucosamine (3F4NP-GlcNAc)1 Publication

    pH dependencei

    Optimum pH is 6.7.1 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 sitei149Proton 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

    Enzyme and pathway databases

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		Q8WVB3

    Protein family/group databases

    Carbohydrate-Active enZymes

    More...    CAZyi    		GH20, Glycoside Hydrolase Family 20

    <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:
    Hexosaminidase DCurated (EC:3.2.1.521 Publication)
    Alternative name(s):
    Beta-N-acetylhexosaminidase
    Beta-hexosaminidase D
    Hexosaminidase domain-containing protein
    N-acetyl-beta-galactosaminidase
    <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:HEXDImported
    Synonyms:HEXDCImported
    <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 17

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000169660.15

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:26307, HEXD

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		616864, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q8WVB3

    <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 & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    <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

    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>Mutagenesisi92H → A: Decreases hexosaminidase activity. 1 Publication1
    Mutagenesisi148D → A or N: Loss of hexosaminidase activity. 1 Publication1
    Mutagenesisi149E → A or N: Decreases hexosaminidase activity. Optimum pH shifts to 7.5. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		284004

    Open Targets

    More...    OpenTargetsi    		ENSG00000169660

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA142671693

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q8WVB3, Tbio

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		HEXDC

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		167008870

    <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 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_00003167901 – 486Hexosaminidase DAdd BLAST486

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q8WVB3

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q8WVB3

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q8WVB3

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q8WVB3

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

    More...    PaxDbi    		Q8WVB3

    PeptideAtlas

    More...    PeptideAtlasi    		Q8WVB3

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q8WVB3

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		74768 [Q8WVB3-1]
    74769 [Q8WVB3-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q8WVB3

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

    More...    PhosphoSitePlusi    		Q8WVB3

    <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

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Expressed in synovial fibroblasts and synovial membranes.1 Publication

    <p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

    Expression is inhibited by TGFB1.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000169660, Expressed in pituitary gland and 178 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q8WVB3, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q8WVB3, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000169660, Tissue enhanced (pancreas)

    <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

    Homodimer; disulfide-linked.

    By similarity

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		129726, 10 interactors

    Protein interaction database and analysis system

    More...    IntActi    		Q8WVB3, 10 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000337854

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q8WVB3, 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

    3D structure databases

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

    More...    SMRi    		Q8WVB3

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    <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

    <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

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		ENOG502QRCP, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00390000014852

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_019666_1_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q8WVB3

    KEGG Orthology (KO)

    More...    KOi    		K14459

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		PRRSACW

    Database of Orthologous Groups

    More...    OrthoDBi    		1021041at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q8WVB3

    TreeFam database of animal gene trees

    More...    TreeFami    		TF314313

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR015883, Glyco_hydro_20_cat
    IPR017853, Glycoside_hydrolase_SF
    IPR038901, HEXDC-like

    The PANTHER Classification System

    More...    PANTHERi    		PTHR21040, PTHR21040, 1 hit

    Pfam protein domain database

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

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF51445, SSF51445, 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.

    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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 10 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q8WVB3-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
    MSGSTPFQMR LVHLDLKGAP PKVSYLSEIF PLFRALGANG LLIEYEDMFP 
            60         70         80         90        100
    YEGPLRLLRA KYAYSPSEIK EILHLAGLNE LEVIPLVQTF GHMEFVLKHT 
           110        120        130        140        150
    AFAHLREVGS FPCTLNPHEA ESLALVGAMI DQVLELHPGA QRLHIGCDEV 
           160        170        180        190        200
    YYLGEGEASR RWLQQEQNST GKLCLSHMRA VASGVKARRP SVTPLVWDDM 
           210        220        230        240        250
    LRDLPEDQLA ASGVPQLVEP VLWDYTADLD VHGKVLLMQK YRRCGFPQLW 
           260        270        280        290        300
    AASAFKGATG PSQAVPPVEH HLRNHVQWLQ VAGSGPTDSL QGIILTGWQR 
           310        320        330        340        350
    YDHYSVLCEL LPAGVPSLAA CLQLLLRGGF DEDVKAKVEN LLGISSLEKT 
           360        370        380        390        400
    DPVREGAGSF PGSNILALVT QVSLHLRSSV DALLEGNRYV TGWFSPYHRQ 
           410        420        430        440        450
    RKLIHPVMVQ HIQPAALSLL AQWSTLVQEL EAALQLAFYP DAVEEWLEEN 
           460        470        480 
    VHPSLQRLQA LLQDLSEVSA PPLPPTSPGR DVAQDP
    Length:486
    Mass (Da):53,790
    Last modified:February 5, 2008 - v3
    <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:i8634D2CC438EA5DA
    GO
    Isoform 2 (identifier: Q8WVB3-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         355-486: EGAGSFPGSN...SPGRDVAQDP → QAPCSPPCPL...EGSSTGRPAL

    Show »
    Length:585
    Mass (Da):63,502
    Checksum:i71AB241D7DFCDDEB
    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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    J3QKL0J3QKL0_HUMAN
    Beta-N-acetylhexosaminidase
    HEXD
    		544Annotation 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>
    J3KT84J3KT84_HUMAN
    Beta-N-acetylhexosaminidase
    HEXD
    		117Annotation 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>
    K7EIV9K7EIV9_HUMAN
    Hexosaminidase D
    HEXD
    		361Annotation 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>
    J3KRH3J3KRH3_HUMAN
    Hexosaminidase D
    HEXD
    		214Annotation 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>
    J3QLN1J3QLN1_HUMAN
    Hexosaminidase D
    HEXD
    		78Annotation 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>
    J3KS46J3KS46_HUMAN
    Hexosaminidase D
    HEXD
    		115Annotation 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>
    J3KTD0J3KTD0_HUMAN
    Hexosaminidase D
    HEXD
    		47Annotation 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>
    J3QKU6J3QKU6_HUMAN
    Hexosaminidase D
    HEXD
    		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>
    J3QS29J3QS29_HUMAN
    Hexosaminidase D
    HEXD
    		46Annotation 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>
    K7EK54K7EK54_HUMAN
    Hexosaminidase D
    HEXD
    		80Annotation 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>

    <p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence AAH18205 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence AAH35561 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
    The sequence BAB85072 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

    Natural variant

    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_038395145I → V. Corresponds to variant dbSNP:rs4789773EnsemblClinVar.1
    Natural variantiVAR_060726232H → Y1 PublicationCorresponds to variant dbSNP:rs17853433Ensembl.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_030777355 – 486EGAGS…VAQDP → QAPCSPPCPLLPLPFPRPWR QLFSAGLSAGRGPAPSLAAT SLPLSHKSASICAALWMRCW RATGMSLAGSAPTTASGSSS TRSWFSTSSPQRSASWHSGA PSCRSWRLPCSWLSTRMPWR SGWRKTCTPACSGCKLCCRT SARCLPPRCHPPALAGTLLR TPEGRAHARGLLLEAGGALH CQMAWAIRAHVGVVPSGPAV SCPHSVPEGPGQPLGERLEN TEGSSTGRPAL in isoform 2. 1 PublicationAdd BLAST132

    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
    		FM204887 mRNA Translation: CAR57925.1
    AC132938 Genomic DNA No translation available.
    CH471099 Genomic DNA Translation: EAW89773.1
    BC018205 mRNA Translation: AAH18205.2 Different initiation.
    BC035561 mRNA Translation: AAH35561.1 Different initiation.
    AK074405 mRNA Translation: BAB85072.1 Different initiation.

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS42402.1 [Q8WVB3-2]
    CCDS82231.1 [Q8WVB3-1]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001317471.1, NM_001330542.1 [Q8WVB3-1]
    NP_775891.2, NM_173620.2 [Q8WVB3-2]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000327949; ENSP00000332634; ENSG00000169660 [Q8WVB3-1]
    ENST00000337014; ENSP00000337854; ENSG00000169660 [Q8WVB3-2]
    ENST00000644009; ENSP00000496193; ENSG00000169660 [Q8WVB3-1]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		284004

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:284004

    UCSC genome browser

    More...    UCSCi    		uc002kev.5, human [Q8WVB3-1]

    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
    		FM204887 mRNA Translation: CAR57925.1
    AC132938 Genomic DNA No translation available.
    CH471099 Genomic DNA Translation: EAW89773.1
    BC018205 mRNA Translation: AAH18205.2 Different initiation.
    BC035561 mRNA Translation: AAH35561.1 Different initiation.
    AK074405 mRNA Translation: BAB85072.1 Different initiation.
    CCDSiCCDS42402.1 [Q8WVB3-2]
    CCDS82231.1 [Q8WVB3-1]
    RefSeqiNP_001317471.1, NM_001330542.1 [Q8WVB3-1]
    NP_775891.2, NM_173620.2 [Q8WVB3-2]

    3D structure databases

    SMRiQ8WVB3
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGRIDi129726, 10 interactors
    IntActiQ8WVB3, 10 interactors
    STRINGi9606.ENSP00000337854

    Protein family/group databases

    CAZyiGH20, Glycoside Hydrolase Family 20

    PTM databases

    iPTMnetiQ8WVB3
    PhosphoSitePlusiQ8WVB3

    Polymorphism and mutation databases

    BioMutaiHEXDC
    DMDMi167008870

    Proteomic databases

    EPDiQ8WVB3
    jPOSTiQ8WVB3
    MassIVEiQ8WVB3
    MaxQBiQ8WVB3
    PaxDbiQ8WVB3
    PeptideAtlasiQ8WVB3
    PRIDEiQ8WVB3
    ProteomicsDBi74768 [Q8WVB3-1]
    74769 [Q8WVB3-2]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		10115, 78 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		284004

    Genome annotation databases

    EnsembliENST00000327949; ENSP00000332634; ENSG00000169660 [Q8WVB3-1]
    ENST00000337014; ENSP00000337854; ENSG00000169660 [Q8WVB3-2]
    ENST00000644009; ENSP00000496193; ENSG00000169660 [Q8WVB3-1]
    GeneIDi284004
    KEGGihsa:284004
    UCSCiuc002kev.5, human [Q8WVB3-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		284004
    DisGeNETi284004
    EuPathDBiHostDB:ENSG00000169660.15

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		HEXD
    HGNCiHGNC:26307, HEXD
    HPAiENSG00000169660, Tissue enhanced (pancreas)
    MIMi616864, gene
    neXtProtiNX_Q8WVB3
    OpenTargetsiENSG00000169660
    PharmGKBiPA142671693

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiENOG502QRCP, Eukaryota
    GeneTreeiENSGT00390000014852
    HOGENOMiCLU_019666_1_1_1
    InParanoidiQ8WVB3
    KOiK14459
    OMAiPRRSACW
    OrthoDBi1021041at2759
    PhylomeDBiQ8WVB3
    TreeFamiTF314313

    Enzyme and pathway databases

    PathwayCommonsiQ8WVB3

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		284004, 2 hits in 875 CRISPR screens

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

    More...    ChiTaRSi    		HEXDC, human

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

    More...    GenomeRNAii    		284004
    PharosiQ8WVB3, Tbio

    Protein Ontology

    More...    PROi    		PR:Q8WVB3
    RNActiQ8WVB3, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000169660, Expressed in pituitary gland and 178 other tissues
    ExpressionAtlasiQ8WVB3, baseline and differential
    GenevisibleiQ8WVB3, HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR015883, Glyco_hydro_20_cat
    IPR017853, Glycoside_hydrolase_SF
    IPR038901, HEXDC-like
    PANTHERiPTHR21040, PTHR21040, 1 hit
    PfamiView protein in Pfam
    PF00728, Glyco_hydro_20, 1 hit
    SUPFAMiSSF51445, SSF51445, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    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 nameiHEXD_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: Q8WVB3
    Secondary accession number(s): B7UUP6, Q8IYN4, Q8TE81
    <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: February 5, 2008
    Last sequence update: February 5, 2008
    Last modified: October 7, 2020
    This is version 131 of the entry and version 3 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

    Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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