UniProtKB - Q8WVB3 (HEXD_HUMAN)
Protein
Hexosaminidase D
Gene
HEXD
Organism
Homo sapiens (Human)
Status
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 EC:3.2.1.52
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
- KM=0.0721 mM for 4-nitrophenyl N-acetylgalactosamine (PNP-GalNAc)1 Publication
- KM=0.607 mM for 4-nitrophenyl-N-acetylglucosamine (PNP-GlcNAc)1 Publication
- KM=0.172 mM for 3-fluoro-4-nitrophenyl-N-acetylgalactosamine (3F4NP-GalNAc)1 Publication
- 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 149 | Proton donorBy similarity | 1 |
GO - Molecular functioni
- beta-N-acetylhexosaminidase activity Source: UniProtKB
- hexosaminidase activity Source: UniProtKB
- N-acetyl-beta-D-galactosaminidase activity Source: UniProtKB-EC
GO - Biological processi
- carbohydrate metabolic process Source: InterPro
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Enzyme and pathway databases
PathwayCommonsi | Q8WVB3 |
Protein family/group databases
CAZyi | GH20, 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 | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26307, HEXD |
MIMi | 616864, gene |
neXtProti | NX_Q8WVB3 |
VEuPathDBi | HostDB:ENSG00000169660.15 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Other locations
- Cytoplasm By similarity
- Extracellular vesicle 1 Publication
Extracellular region or secreted
- extracellular vesicle Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 92 | H → A: Decreases hexosaminidase activity. 1 Publication | 1 | |
Mutagenesisi | 148 | D → A or N: Loss of hexosaminidase activity. 1 Publication | 1 | |
Mutagenesisi | 149 | E → A or N: Decreases hexosaminidase activity. Optimum pH shifts to 7.5. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 284004 |
OpenTargetsi | ENSG00000169660 |
PharmGKBi | PA142671693 |
Miscellaneous databases
Pharosi | Q8WVB3, Tbio |
Genetic variation databases
BioMutai | HEXDC |
DMDMi | 167008870 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000316790 | 1 – 486 | Hexosaminidase DAdd BLAST | 486 |
Keywords - PTMi
Disulfide bondProteomic databases
EPDi | Q8WVB3 |
jPOSTi | Q8WVB3 |
MassIVEi | Q8WVB3 |
MaxQBi | Q8WVB3 |
PaxDbi | Q8WVB3 |
PeptideAtlasi | Q8WVB3 |
PRIDEi | Q8WVB3 |
ProteomicsDBi | 74768 [Q8WVB3-1] 74769 [Q8WVB3-2] |
PTM databases
iPTMneti | Q8WVB3 |
PhosphoSitePlusi | Q8WVB3 |
Expressioni
Tissue specificityi
Expressed in synovial fibroblasts and synovial membranes.1 Publication
Inductioni
Expression is inhibited by TGFB1.1 Publication
Gene expression databases
Bgeei | ENSG00000169660, Expressed in pituitary gland and 178 other tissues |
ExpressionAtlasi | Q8WVB3, baseline and differential |
Genevisiblei | Q8WVB3, HS |
Organism-specific databases
HPAi | ENSG00000169660, Tissue enhanced (pancreas) |
Interactioni
Subunit structurei
Homodimer; disulfide-linked.
By similarityProtein-protein interaction databases
BioGRIDi | 129726, 11 interactors |
IntActi | Q8WVB3, 10 interactors |
STRINGi | 9606.ENSP00000337854 |
Miscellaneous databases
RNActi | Q8WVB3, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyl hydrolase 20 family.Curated
Phylogenomic databases
eggNOGi | ENOG502QRCP, Eukaryota |
GeneTreei | ENSGT00390000014852 |
HOGENOMi | CLU_019666_1_1_1 |
InParanoidi | Q8WVB3 |
OMAi | PRRSACW |
OrthoDBi | 1021041at2759 |
PhylomeDBi | Q8WVB3 |
TreeFami | TF314313 |
Family and domain databases
InterProi | View protein in InterPro IPR015883, Glyco_hydro_20_cat IPR017853, Glycoside_hydrolase_SF IPR038901, HEXDC-like |
PANTHERi | PTHR21040, PTHR21040, 1 hit |
Pfami | View protein in Pfam PF00728, Glyco_hydro_20, 1 hit |
SUPFAMi | SSF51445, SSF51445, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3QKL0 | J3QKL0_HUMAN | Beta-N-acetylhexosaminidase | HEXD | 544 | Annotation score: | ||
J3KT84 | J3KT84_HUMAN | Beta-N-acetylhexosaminidase | HEXD | 117 | Annotation score: | ||
K7EIV9 | K7EIV9_HUMAN | Hexosaminidase D | HEXD | 361 | Annotation score: | ||
J3KRH3 | J3KRH3_HUMAN | Hexosaminidase D | HEXD | 214 | Annotation score: | ||
J3QLN1 | J3QLN1_HUMAN | Hexosaminidase D | HEXD | 78 | Annotation score: | ||
J3KS46 | J3KS46_HUMAN | Hexosaminidase D | HEXD | 115 | Annotation score: | ||
J3QKU6 | J3QKU6_HUMAN | Hexosaminidase D | HEXD | 88 | Annotation score: | ||
K7EK54 | K7EK54_HUMAN | Hexosaminidase D | HEXD | 80 | Annotation score: | ||
J3KTD0 | J3KTD0_HUMAN | Hexosaminidase D | HEXD | 47 | Annotation score: | ||
J3QS29 | J3QS29_HUMAN | Hexosaminidase D | HEXD | 46 | Annotation score: |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038395 | 145 | I → V. Corresponds to variant dbSNP:rs4789773EnsemblClinVar. | 1 | |
Natural variantiVAR_060726 | 232 | H → Y1 PublicationCorresponds to variant dbSNP:rs17853433Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030777 | 355 – 486 | EGAGS…VAQDP → QAPCSPPCPLLPLPFPRPWR QLFSAGLSAGRGPAPSLAAT SLPLSHKSASICAALWMRCW RATGMSLAGSAPTTASGSSS TRSWFSTSSPQRSASWHSGA PSCRSWRLPCSWLSTRMPWR SGWRKTCTPACSGCKLCCRT SARCLPPRCHPPALAGTLLR TPEGRAHARGLLLEAGGALH CQMAWAIRAHVGVVPSGPAV SCPHSVPEGPGQPLGERLEN TEGSSTGRPAL in isoform 2. 1 PublicationAdd BLAST | 132 |
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. |
CCDSi | CCDS42402.1 [Q8WVB3-2] CCDS82231.1 [Q8WVB3-1] |
RefSeqi | NP_001317471.1, NM_001330542.1 [Q8WVB3-1] NP_775891.2, NM_173620.2 [Q8WVB3-2] XP_016879974.1, XM_017024485.1 |
Genome annotation databases
Ensembli | ENST00000327949; ENSP00000332634; ENSG00000169660 [Q8WVB3-1] ENST00000337014; ENSP00000337854; ENSG00000169660 [Q8WVB3-2] ENST00000644009; ENSP00000496193; ENSG00000169660 [Q8WVB3-1] |
GeneIDi | 284004 |
KEGGi | hsa:284004 |
UCSCi | uc002kev.5, human [Q8WVB3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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. |
CCDSi | CCDS42402.1 [Q8WVB3-2] CCDS82231.1 [Q8WVB3-1] |
RefSeqi | NP_001317471.1, NM_001330542.1 [Q8WVB3-1] NP_775891.2, NM_173620.2 [Q8WVB3-2] XP_016879974.1, XM_017024485.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 129726, 11 interactors |
IntActi | Q8WVB3, 10 interactors |
STRINGi | 9606.ENSP00000337854 |
Protein family/group databases
CAZyi | GH20, Glycoside Hydrolase Family 20 |
PTM databases
iPTMneti | Q8WVB3 |
PhosphoSitePlusi | Q8WVB3 |
Genetic variation databases
BioMutai | HEXDC |
DMDMi | 167008870 |
Proteomic databases
EPDi | Q8WVB3 |
jPOSTi | Q8WVB3 |
MassIVEi | Q8WVB3 |
MaxQBi | Q8WVB3 |
PaxDbi | Q8WVB3 |
PeptideAtlasi | Q8WVB3 |
PRIDEi | Q8WVB3 |
ProteomicsDBi | 74768 [Q8WVB3-1] 74769 [Q8WVB3-2] |
Protocols and materials databases
Antibodypediai | 10115, 78 antibodies |
DNASUi | 284004 |
Genome annotation databases
Ensembli | ENST00000327949; ENSP00000332634; ENSG00000169660 [Q8WVB3-1] ENST00000337014; ENSP00000337854; ENSG00000169660 [Q8WVB3-2] ENST00000644009; ENSP00000496193; ENSG00000169660 [Q8WVB3-1] |
GeneIDi | 284004 |
KEGGi | hsa:284004 |
UCSCi | uc002kev.5, human [Q8WVB3-1] |
Organism-specific databases
CTDi | 284004 |
DisGeNETi | 284004 |
GeneCardsi | HEXD |
HGNCi | HGNC:26307, HEXD |
HPAi | ENSG00000169660, Tissue enhanced (pancreas) |
MIMi | 616864, gene |
neXtProti | NX_Q8WVB3 |
OpenTargetsi | ENSG00000169660 |
PharmGKBi | PA142671693 |
VEuPathDBi | HostDB:ENSG00000169660.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRCP, Eukaryota |
GeneTreei | ENSGT00390000014852 |
HOGENOMi | CLU_019666_1_1_1 |
InParanoidi | Q8WVB3 |
OMAi | PRRSACW |
OrthoDBi | 1021041at2759 |
PhylomeDBi | Q8WVB3 |
TreeFami | TF314313 |
Enzyme and pathway databases
PathwayCommonsi | Q8WVB3 |
Miscellaneous databases
BioGRID-ORCSi | 284004, 2 hits in 878 CRISPR screens |
ChiTaRSi | HEXDC, human |
GenomeRNAii | 284004 |
Pharosi | Q8WVB3, Tbio |
PROi | PR:Q8WVB3 |
RNActi | Q8WVB3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000169660, Expressed in pituitary gland and 178 other tissues |
ExpressionAtlasi | Q8WVB3, baseline and differential |
Genevisiblei | Q8WVB3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR015883, Glyco_hydro_20_cat IPR017853, Glycoside_hydrolase_SF IPR038901, HEXDC-like |
PANTHERi | PTHR21040, PTHR21040, 1 hit |
Pfami | View protein in Pfam PF00728, Glyco_hydro_20, 1 hit |
SUPFAMi | SSF51445, SSF51445, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HEXD_HUMAN | |
Accessioni | Q8WVB3Primary (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: | February 10, 2021 | |
This is version 133 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families