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Aliases for HEXDC Gene

Aliases for HEXDC Gene

  • Hexosaminidase (Glycosyl Hydrolase Family 20, Catalytic Domain) Containing 2 3
  • Hexosaminidase Domain-Containing Protein 3 4
  • N-Acetyl-Beta-Galactosaminidase 3 4
  • Beta-N-Acetylhexosaminidase 3 4
  • Beta-Hexosaminidase D 3 4
  • Hexosaminidase D 3
  • EC 3.2.1.52 4

External Ids for HEXDC Gene

Summaries for HEXDC Gene

GeneCards Summary for HEXDC Gene

HEXDC (Hexosaminidase (Glycosyl Hydrolase Family 20, Catalytic Domain) Containing) is a Protein Coding gene. Diseases associated with HEXDC include tay-sachs disease. Among its related pathways are Other glycan degradation. GO annotations related to this gene include beta-N-acetylhexosaminidase activity.

UniProtKB/Swiss-Prot for HEXDC Gene

  • Has hexosaminidase activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEXDC Gene

Genomics for HEXDC Gene

Genomic Location for HEXDC Gene

Start:
82,418,318 bp from pter
End:
82,442,645 bp from pter
Size:
24,328 bases
Orientation:
Plus strand

Genomic View for HEXDC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEXDC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEXDC Gene

Regulatory Elements for HEXDC Gene

Proteins for HEXDC Gene

  • Protein details for HEXDC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVB3-HEXDC_HUMAN
    Recommended name:
    Hexosaminidase D
    Protein Accession:
    Q8WVB3
    Secondary Accessions:
    • B7UUP6
    • Q8IYN4
    • Q8TE81

    Protein attributes for HEXDC Gene

    Size:
    486 amino acids
    Molecular mass:
    53790 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    SequenceCaution:
    • Sequence=AAH18205.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH35561.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB85072.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HEXDC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEXDC Gene

Proteomics data for HEXDC Gene at MOPED

Post-translational modifications for HEXDC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HEXDC Gene

Domains for HEXDC Gene

Protein Domains for HEXDC Gene

UniProtKB/Swiss-Prot:

HEXDC_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 20 family.:
    • Q8WVB3
genes like me logo Genes that share domains with HEXDC: view

No data available for Gene Families for HEXDC Gene

Function for HEXDC Gene

Molecular function for HEXDC Gene

UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by O-(2-acetamido-2-deoxy-D-glucopyranosylidene)amino N-phenylcarbamate (PUGNAc).
UniProtKB/Swiss-Prot Function: Has hexosaminidase activity.

Enzyme Numbers (IUBMB) for HEXDC Gene

Gene Ontology (GO) - Molecular Function for HEXDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004563 beta-N-acetylhexosaminidase activity IEA --
genes like me logo Genes that share ontologies with HEXDC: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HEXDC Gene

Localization for HEXDC Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEXDC Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEXDC Gene COMPARTMENTS Subcellular localization image for HEXDC gene
Compartment Confidence
nucleus 4
lysosome 2
vacuole 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HEXDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with HEXDC: view

Pathways for HEXDC Gene

SuperPathways for HEXDC Gene

Superpath Contained pathways
1 Other glycan degradation
genes like me logo Genes that share pathways with HEXDC: view

Pathways by source for HEXDC Gene

1 KEGG pathway for HEXDC Gene

Interacting Proteins for HEXDC Gene

Gene Ontology (GO) - Biological Process for HEXDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
genes like me logo Genes that share ontologies with HEXDC: view

Transcripts for HEXDC Gene

Unigene Clusters for HEXDC Gene

Hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEXDC Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - - - - -
SP2:
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - -
SP7: - - - - -
SP8:
SP9:
SP10: -

Relevant External Links for HEXDC Gene

GeneLoc Exon Structure for
HEXDC
ECgene alternative splicing isoforms for
HEXDC

Expression for HEXDC Gene

mRNA expression in normal human tissues for HEXDC Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HEXDC Gene

SOURCE GeneReport for Unigene cluster for HEXDC Gene Hs.744207

genes like me logo Genes that share expressions with HEXDC: view

Orthologs for HEXDC Gene

This gene was present in the common ancestor of animals.

Orthologs for HEXDC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEXDC 36
  • 98.97 (n)
  • 98.31 (a)
HEXDC 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEXDC 36
  • 81.38 (n)
  • 80.23 (a)
HEXDC 37
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEXDC 36
  • 83.19 (n)
  • 82.34 (a)
HEXDC 37
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hexdc 36
  • 78.59 (n)
  • 79.44 (a)
Hexdc 16
Hexdc 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEXDC 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEXDC 37
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hexdc 36
  • 79.25 (n)
  • 78.31 (a)
chicken
(Gallus gallus)
Aves HEXDC 37
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEXDC 37
  • 35 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13505 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15445 36
zebrafish
(Danio rerio)
Actinopterygii hexdc 36
  • 54.09 (n)
  • 50.88 (a)
hexdc 37
  • 40 (a)
OneToOne
wufj33c04 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004270 36
  • 53.98 (n)
  • 50.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7985 36
  • 53.21 (n)
  • 49.53 (a)
CG7985 37
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hex-2 36
  • 46.69 (n)
  • 39.1 (a)
hex-2 37
  • 23 (a)
OneToMany
hex-3 37
  • 24 (a)
OneToMany
hex-4 37
  • 26 (a)
OneToMany
hex-5 37
  • 26 (a)
OneToMany
Species with no ortholog for HEXDC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HEXDC Gene

ENSEMBL:
Gene Tree for HEXDC (if available)
TreeFam:
Gene Tree for HEXDC (if available)

Paralogs for HEXDC Gene

genes like me logo Genes that share paralogs with HEXDC: view

No data available for Paralogs for HEXDC Gene

Variants for HEXDC Gene

Sequence variations from dbSNP and Humsavar for HEXDC Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2379233 -- 82,439,892(-) CAGGC(C/T)CAGCC intron-variant, downstream-variant-500B, nc-transcript-variant
rs2379234 -- 82,438,925(-) GCGCC(A/G)CTGCT intron-variant
rs4072532 -- 82,436,204(-) CAGAG(C/T)GAGCA intron-variant
rs4375695 -- 82,437,963(-) caccg(C/T)actca intron-variant
rs4468665 -- 82,438,132(-) agcct(C/G/T)ccgag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HEXDC Gene

Variant ID Type Subtype PubMed ID
nsv428351 CNV Gain 18775914
dgv3332n71 CNV Loss 21882294
nsv909134 CNV Loss 21882294
esv21913 CNV Gain+Loss 19812545
dgv3341n71 CNV Loss 21882294
dgv3353n71 CNV Loss 21882294
dgv3354n71 CNV Loss 21882294
nsv469561 CNV Complex 16826518
nsv909217 CNV Loss 21882294
nsv909223 CNV Loss 21882294
nsv909227 CNV Loss 21882294
nsv909228 CNV Gain 21882294
nsv909229 CNV Loss 21882294
dgv3360n71 CNV Loss 21882294
nsv909231 CNV Loss 21882294
nsv828143 CNV Loss 20364138
nsv833574 CNV Gain 17160897
dgv3361n71 CNV Loss 21882294
dgv3362n71 CNV Loss 21882294

Relevant External Links for HEXDC Gene

HapMap Linkage Disequilibrium report
HEXDC
Human Gene Mutation Database (HGMD)
HEXDC

Disorders for HEXDC Gene

(1) MalaCards Diseases for HEXDC Gene

Search for HEXDC Gene in MalaCards »

(2) University of Copenhagen DISEASES for HEXDC Gene

genes like me logo Genes that share disorders with HEXDC: view

No data available for UniProtKB/Swiss-Prot for HEXDC Gene

Publications for HEXDC Gene

  1. Mammalian cells contain a second nucleocytoplasmic hexosaminidase. (PMID: 19040401) Gutternigg M. … Wilson I.B. (Biochem. J. 2009) 3 4 23
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. A human protein-protein interaction network: a resource for annotating the proteome. (PMID: 16169070) Stelzl U. … Wanker E.E. (Cell 2005) 3
  4. Urinary proteins, N-acetyl-I^-D-glucosaminidase activity and estimated glomerular filtration rate in hypertensive patients with normoalbuminuria and microalbuminuria. (PMID: 21265931) Lisowska-Myjak B. … Gaciong Z. (Nephrology (Carlton) 2011) 3
  5. Assessment of urinary N-acetyl-I^-glucosaminidase as an early marker of contrast-induced nephropathy. (PMID: 21672370) Ren L. … Ding X.Q. (J. Int. Med. Res. 2011) 3

Products for HEXDC Gene

Sources for HEXDC Gene

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