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Q8WVB3

- HEXDC_HUMAN

UniProt

Q8WVB3 - HEXDC_HUMAN

Protein

Hexosaminidase D

Gene

HEXDC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 3 (05 Feb 2008)
      Previous versions | rss
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    Functioni

    Has hexosaminidase activity.1 Publication

    Catalytic activityi

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

    Enzyme regulationi

    Inhibited by O-(2-acetamido-2-deoxy-D-glucopyranosylidene)amino N-phenylcarbamate (PUGNAc).By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei149 – 1491Proton donorBy similarity

    GO - Molecular functioni

    1. beta-N-acetylhexosaminidase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: InterPro

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Protein family/group databases

    CAZyiGH20. Glycoside Hydrolase Family 20.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hexosaminidase D (EC:3.2.1.52)
    Alternative name(s):
    Beta-N-acetylhexosaminidase
    Beta-hexosaminidase D
    Hexosaminidase domain-containing protein
    N-acetyl-beta-galactosaminidase
    Gene namesi
    Name:HEXDC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:26307. HEXDC.

    Subcellular locationi

    Cytoplasm. Nucleus By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671693.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 486486Hexosaminidase DPRO_0000316790Add
    BLAST

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    MaxQBiQ8WVB3.
    PaxDbiQ8WVB3.
    PRIDEiQ8WVB3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8WVB3.
    BgeeiQ8WVB3.
    CleanExiHS_HEXDC.
    GenevestigatoriQ8WVB3.

    Organism-specific databases

    HPAiHPA022834.
    HPA023379.
    HPA027844.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked.By similarity

    Protein-protein interaction databases

    BioGridi129726. 8 interactions.
    IntActiQ8WVB3. 9 interactions.
    MINTiMINT-1383902.
    STRINGi9606.ENSP00000337854.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WVB3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 20 family.Curated

    Phylogenomic databases

    eggNOGiNOG72156.
    HOGENOMiHOG000047740.
    HOVERGENiHBG061201.
    KOiK14459.
    OMAiSWRLPCS.
    OrthoDBiEOG7N63M4.
    PhylomeDBiQ8WVB3.
    TreeFamiTF314313.

    Family and domain databases

    Gene3Di3.20.20.80. 1 hit.
    InterProiIPR015883. Glyco_hydro_20_cat-core.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view]
    PfamiPF00728. Glyco_hydro_20. 1 hit.
    [Graphical view]
    SUPFAMiSSF51445. SSF51445. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MSGSTPFQMR LVHLDLKGAP PKVSYLSEIF PLFRALGANG LLIEYEDMFP    50
    YEGPLRLLRA KYAYSPSEIK EILHLAGLNE LEVIPLVQTF GHMEFVLKHT 100
    AFAHLREVGS FPCTLNPHEA ESLALVGAMI DQVLELHPGA QRLHIGCDEV 150
    YYLGEGEASR RWLQQEQNST GKLCLSHMRA VASGVKARRP SVTPLVWDDM 200
    LRDLPEDQLA ASGVPQLVEP VLWDYTADLD VHGKVLLMQK YRRCGFPQLW 250
    AASAFKGATG PSQAVPPVEH HLRNHVQWLQ VAGSGPTDSL QGIILTGWQR 300
    YDHYSVLCEL LPAGVPSLAA CLQLLLRGGF DEDVKAKVEN LLGISSLEKT 350
    DPVREGAGSF PGSNILALVT QVSLHLRSSV DALLEGNRYV TGWFSPYHRQ 400
    RKLIHPVMVQ HIQPAALSLL AQWSTLVQEL EAALQLAFYP DAVEEWLEEN 450
    VHPSLQRLQA LLQDLSEVSA PPLPPTSPGR DVAQDP 486
    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

    Sequence cautioni

    The sequence AAH18205.2 differs from that shown. Reason: Erroneous initiation.
    The sequence AAH35561.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAB85072.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti145 – 1451I → V.
    Corresponds to variant rs4789773 [ dbSNP | Ensembl ].
    VAR_038395
    Natural varianti232 – 2321H → Y.1 Publication
    Corresponds to variant rs17853433 [ dbSNP | Ensembl ].
    VAR_060726

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei355 – 486132EGAGS…VAQDP → QAPCSPPCPLLPLPFPRPWR QLFSAGLSAGRGPAPSLAAT SLPLSHKSASICAALWMRCW RATGMSLAGSAPTTASGSSS TRSWFSTSSPQRSASWHSGA PSCRSWRLPCSWLSTRMPWR SGWRKTCTPACSGCKLCCRT SARCLPPRCHPPALAGTLLR TPEGRAHARGLLLEAGGALH CQMAWAIRAHVGVVPSGPAV SCPHSVPEGPGQPLGERLEN TEGSSTGRPAL in isoform 2. 1 PublicationVSP_030777Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    RefSeqiNP_775891.2. NM_173620.2. [Q8WVB3-2]
    XP_005256404.1. XM_005256347.2. [Q8WVB3-1]
    UniGeneiHs.744207.

    Genome annotation databases

    EnsembliENST00000327949; ENSP00000332634; ENSG00000169660. [Q8WVB3-1]
    ENST00000337014; ENSP00000337854; ENSG00000169660. [Q8WVB3-2]
    GeneIDi284004.
    KEGGihsa:284004.
    UCSCiuc002kev.4. human. [Q8WVB3-2]
    uc002kew.3. human. [Q8WVB3-1]

    Polymorphism databases

    DMDMi167008870.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS42402.1. [Q8WVB3-2 ]
    RefSeqi NP_775891.2. NM_173620.2. [Q8WVB3-2 ]
    XP_005256404.1. XM_005256347.2. [Q8WVB3-1 ]
    UniGenei Hs.744207.

    3D structure databases

    ProteinModelPortali Q8WVB3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129726. 8 interactions.
    IntActi Q8WVB3. 9 interactions.
    MINTi MINT-1383902.
    STRINGi 9606.ENSP00000337854.

    Protein family/group databases

    CAZyi GH20. Glycoside Hydrolase Family 20.

    Polymorphism databases

    DMDMi 167008870.

    Proteomic databases

    MaxQBi Q8WVB3.
    PaxDbi Q8WVB3.
    PRIDEi Q8WVB3.

    Protocols and materials databases

    DNASUi 284004.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327949 ; ENSP00000332634 ; ENSG00000169660 . [Q8WVB3-1 ]
    ENST00000337014 ; ENSP00000337854 ; ENSG00000169660 . [Q8WVB3-2 ]
    GeneIDi 284004.
    KEGGi hsa:284004.
    UCSCi uc002kev.4. human. [Q8WVB3-2 ]
    uc002kew.3. human. [Q8WVB3-1 ]

    Organism-specific databases

    CTDi 284004.
    GeneCardsi GC17P080382.
    HGNCi HGNC:26307. HEXDC.
    HPAi HPA022834.
    HPA023379.
    HPA027844.
    neXtProti NX_Q8WVB3.
    PharmGKBi PA142671693.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72156.
    HOGENOMi HOG000047740.
    HOVERGENi HBG061201.
    KOi K14459.
    OMAi SWRLPCS.
    OrthoDBi EOG7N63M4.
    PhylomeDBi Q8WVB3.
    TreeFami TF314313.

    Miscellaneous databases

    GenomeRNAii 284004.
    NextBioi 94440.
    PROi Q8WVB3.

    Gene expression databases

    ArrayExpressi Q8WVB3.
    Bgeei Q8WVB3.
    CleanExi HS_HEXDC.
    Genevestigatori Q8WVB3.

    Family and domain databases

    Gene3Di 3.20.20.80. 1 hit.
    InterProi IPR015883. Glyco_hydro_20_cat-core.
    IPR013781. Glyco_hydro_catalytic_dom.
    IPR017853. Glycoside_hydrolase_SF.
    [Graphical view ]
    Pfami PF00728. Glyco_hydro_20. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51445. SSF51445. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Mammalian cells contain a second nucleocytoplasmic hexosaminidase."
      Gutternigg M., Rendic D., Voglauer R., Iskratsch T., Wilson I.B.
      Biochem. J. 419:83-90(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT TYR-232.
      Tissue: Blood and Cervix.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-486 (ISOFORM 1).

    Entry informationi

    Entry nameiHEXDC_HUMAN
    AccessioniPrimary (citable) accession number: Q8WVB3
    Secondary accession number(s): B7UUP6, Q8IYN4, Q8TE81
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: February 5, 2008
    Last modified: October 1, 2014
    This is version 92 of the entry and version 3 of the sequence. [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. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3