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Protein

Hexosaminidase D

Gene

HEXDC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

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

GO - Biological processi

Complete GO annotation...

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 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26307. HEXDC.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671693.

Polymorphism and mutation databases

BioMutaiHEXDC.
DMDMi167008870.

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

BgeeiQ8WVB3.
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. 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.
GeneTreeiENSGT00390000014852.
HOGENOMiHOG000047740.
HOVERGENiHBG061201.
InParanoidiQ8WVB3.
KOiK14459.
OMAiWRLPCSW.
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. AlignAdd to basket

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

Sequence cautioni

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

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:
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]
RefSeqiNP_775891.2. NM_173620.2. [Q8WVB3-2]
XP_005256404.1. XM_005256347.3. [Q8WVB3-1]
UniGeneiHs.744207.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
RefSeqiNP_775891.2. NM_173620.2. [Q8WVB3-2]
XP_005256404.1. XM_005256347.3. [Q8WVB3-1]
UniGeneiHs.744207.

3D structure databases

ProteinModelPortaliQ8WVB3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

Protein family/group databases

CAZyiGH20. Glycoside Hydrolase Family 20.

Polymorphism and mutation databases

BioMutaiHEXDC.
DMDMi167008870.

Proteomic databases

MaxQBiQ8WVB3.
PaxDbiQ8WVB3.
PRIDEiQ8WVB3.

Protocols and materials databases

DNASUi284004.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi284004.
GeneCardsiGC17P080382.
HGNCiHGNC:26307. HEXDC.
HPAiHPA022834.
HPA023379.
HPA027844.
neXtProtiNX_Q8WVB3.
PharmGKBiPA142671693.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG72156.
GeneTreeiENSGT00390000014852.
HOGENOMiHOG000047740.
HOVERGENiHBG061201.
InParanoidiQ8WVB3.
KOiK14459.
OMAiWRLPCSW.
OrthoDBiEOG7N63M4.
PhylomeDBiQ8WVB3.
TreeFamiTF314313.

Miscellaneous databases

GenomeRNAii284004.
NextBioi94440.
PROiQ8WVB3.

Gene expression databases

BgeeiQ8WVB3.
CleanExiHS_HEXDC.
ExpressionAtlasiQ8WVB3. baseline and differential.
GenevisibleiQ8WVB3. HS.

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.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: July 22, 2015
This is version 97 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.