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Protein

Hexosaminidase D

Gene

HEXD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Catalytic activityi

Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.2 Publications

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

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
    Active sitei149Proton donorBy similarity1

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionGlycosidase, Hydrolase

    Protein family/group databases

    CAZyiGH20 Glycoside Hydrolase Family 20

    Names & Taxonomyi

    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
    Gene namesi
    Name:HEXDImported
    Synonyms:HEXDCImported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 17

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000169660.15
    HGNCiHGNC:26307 HEXD
    MIMi616864 gene
    neXtProtiNX_Q8WVB3

    Subcellular locationi

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

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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

    DisGeNETi284004
    OpenTargetsiENSG00000169660
    PharmGKBiPA142671693

    Polymorphism and mutation databases

    BioMutaiHEXDC
    DMDMi167008870

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00003167901 – 486Hexosaminidase DAdd BLAST486

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

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

    PTM databases

    iPTMnetiQ8WVB3
    PhosphoSitePlusiQ8WVB3

    Expressioni

    Tissue specificityi

    Expressed in synovial fibroblasts and synovial membranes.1 Publication

    Inductioni

    Expression is inhibited by TGFB1.1 Publication

    Gene expression databases

    BgeeiENSG00000169660 Expressed in 163 organ(s), highest expression level in myometrium
    CleanExiHS_HEXDC
    ExpressionAtlasiQ8WVB3 baseline and differential
    GenevisibleiQ8WVB3 HS

    Organism-specific databases

    HPAiHPA022834
    HPA023379
    HPA027844

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked.By similarity

    Protein-protein interaction databases

    BioGridi129726, 9 interactors
    IntActiQ8WVB3, 9 interactors
    STRINGi9606.ENSP00000337854

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WVB3
    SMRiQ8WVB3
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 20 family.Curated

    Phylogenomic databases

    eggNOGiENOG410IEV5 Eukaryota
    ENOG410XQYG LUCA
    GeneTreeiENSGT00390000014852
    HOGENOMiHOG000047740
    HOVERGENiHBG061201
    InParanoidiQ8WVB3
    KOiK14459
    OMAiCAALWTH
    OrthoDBiEOG091G04BL
    PhylomeDBiQ8WVB3
    TreeFamiTF314313

    Family and domain databases

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

    Sequences (2+)i

    Sequence statusi: Complete.

    This entry describes 2 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    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
    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

    Note: No experimental confirmation available.
    Show »
    Length:585
    Mass (Da):63,502
    Checksum:i71AB241D7DFCDDEB
    GO

    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
    Hexosaminidase D
    HEXD
    544Annotation score:
    J3KT84J3KT84_HUMAN
    Hexosaminidase D
    HEXD
    117Annotation score:
    J3KRH3J3KRH3_HUMAN
    Hexosaminidase D
    HEXD
    214Annotation score:
    K7EIV9K7EIV9_HUMAN
    Hexosaminidase D
    HEXD
    361Annotation score:
    J3QLN1J3QLN1_HUMAN
    Hexosaminidase D
    HEXD
    78Annotation score:
    J3KS46J3KS46_HUMAN
    Hexosaminidase D
    HEXD
    115Annotation score:
    J3QKU6J3QKU6_HUMAN
    Hexosaminidase D
    HEXD
    88Annotation score:
    J3KTD0J3KTD0_HUMAN
    Hexosaminidase D
    HEXD
    47Annotation score:
    J3QS29J3QS29_HUMAN
    Hexosaminidase D
    HEXD
    46Annotation score:
    K7EK54K7EK54_HUMAN
    Hexosaminidase D
    HEXD
    80Annotation score:

    Sequence cautioni

    The sequence AAH18205 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
    The sequence AAH35561 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
    The sequence BAB85072 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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
    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:
    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]
    XP_016879974.1, XM_017024485.1
    UniGeneiHs.744207

    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]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    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]
    XP_016879974.1, XM_017024485.1
    UniGeneiHs.744207

    3D structure databases

    ProteinModelPortaliQ8WVB3
    SMRiQ8WVB3
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi129726, 9 interactors
    IntActiQ8WVB3, 9 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
    MaxQBiQ8WVB3
    PaxDbiQ8WVB3
    PeptideAtlasiQ8WVB3
    PRIDEiQ8WVB3
    ProteomicsDBi74768
    74769 [Q8WVB3-2]

    Protocols and materials databases

    DNASUi284004
    Structural Biology KnowledgebaseSearch...

    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

    CTDi284004
    DisGeNETi284004
    EuPathDBiHostDB:ENSG00000169660.15
    GeneCardsiHEXDC
    HGNCiHGNC:26307 HEXD
    HPAiHPA022834
    HPA023379
    HPA027844
    MIMi616864 gene
    neXtProtiNX_Q8WVB3
    OpenTargetsiENSG00000169660
    PharmGKBiPA142671693
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiENOG410IEV5 Eukaryota
    ENOG410XQYG LUCA
    GeneTreeiENSGT00390000014852
    HOGENOMiHOG000047740
    HOVERGENiHBG061201
    InParanoidiQ8WVB3
    KOiK14459
    OMAiCAALWTH
    OrthoDBiEOG091G04BL
    PhylomeDBiQ8WVB3
    TreeFamiTF314313

    Miscellaneous databases

    ChiTaRSiHEXDC human
    GenomeRNAii284004
    PROiPR:Q8WVB3
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000169660 Expressed in 163 organ(s), highest expression level in myometrium
    CleanExiHS_HEXDC
    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
    PANTHERiPTHR21040 PTHR21040, 1 hit
    PfamiView protein in Pfam
    PF00728 Glyco_hydro_20, 1 hit
    SUPFAMiSSF51445 SSF51445, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiHEXD_HUMAN
    AccessioniPrimary (citable) accession number: Q8WVB3
    Secondary accession number(s): B7UUP6, Q8IYN4, Q8TE81
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: February 5, 2008
    Last modified: November 7, 2018
    This is version 117 of the entry and version 3 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    6. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
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