U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HEXD hexosaminidase D [ Homo sapiens (human) ]

Gene ID: 284004, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
HEXDprovided by HGNC
Official Full Name
hexosaminidase Dprovided by HGNC
Primary source
HGNC:HGNC:26307
See related
Ensembl:ENSG00000169660 MIM:616864; AllianceGenome:HGNC:26307
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEXDC
Summary
Enables beta-N-acetylhexosaminidase activity. Predicted to be involved in carbohydrate metabolic process. Located in extracellular vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 11.1), prostate (RPKM 7.3) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See HEXD in Genome Data Viewer
Location:
17q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82418347..82442645)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83287277..83311569)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80376223..80400521)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80343201-80343886 Neighboring gene uncharacterized LOC124904090 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80357274-80357880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80381859-80382694 Neighboring gene uncharacterized LOC124904091 Neighboring gene HEXD intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80396877-80397376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80397599-80398386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9213 Neighboring gene cytochrome b-245 chaperone 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13010 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80416539-80417371 Neighboring gene NARF antisense RNA 2 Neighboring gene nuclear prelamin A recognition factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13011 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80452439-80452776 Neighboring gene tRNA-iMet (anticodon CAT) 1-8

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Assessment of urinary N-acetyl-β-glucosaminidase as an early marker of contrast-induced nephropathy. Ren L, et al. J Int Med Res, 2011. PMID 21672370
  2. Urinary proteins, N-acetyl-β-D-glucosaminidase activity and estimated glomerular filtration rate in hypertensive patients with normoalbuminuria and microalbuminuria. Lisowska-Myjak B, et al. Nephrology (Carlton), 2011 May. PMID 21265931
  3. Mechanism of Human Nucleocytoplasmic Hexosaminidase D. Alteen MG, et al. Biochemistry, 2016 May 17. PMID 27149221, Free PMC Article
  4. The recently identified hexosaminidase D enzyme substantially contributes to the elevated hexosaminidase activity in rheumatoid arthritis. Pásztói M, et al. Immunol Lett, 2013 Jan. PMID 23099419
  5. Mammalian cells contain a second nucleocytoplasmic hexosaminidase. Gutternigg M, et al. Biochem J, 2009 Apr 1. PMID 19040401, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The catalytically important residues are Asp148 and Glu149, with Glu149 serving as the general acid/base residue and Asp148 as the polarizing residue. HexD is inhibited by Gal-NAG-thiazoline (Ki = 420 nM).
    Title: Mechanism of Human Nucleocytoplasmic Hexosaminidase D.
  2. the expression and disease relevance of the HEXDC gene in humans demonstrate the expression of this novel enzyme within the joints, and suggests that its activity may significantly contribute to the overall local exoglycosidase activity.
    Title: The recently identified hexosaminidase D enzyme substantially contributes to the elevated hexosaminidase activity in rheumatoid arthritis.
  3. Studies indicate the most studied biomarkers for acute kidney injury are neutrophil gelatinase-associated lipocalin-2, kidney injury molecule-1, IL-18, cystatin C, N-acetyl-beta-D-glucosaminidase, liver fatty-acid binding protein, and heat shock protein 72.
    Title: Are recently reported biomarkers helpful for early and accurate diagnosis of acute kidney injury?
  4. The results suggest that, following coronary angiography and/or percutaneous coronary intervention, contrast-induced nephropathy (CIN) occurs to a certain degree and that NAG may be a useful early CIN marker.
    Title: Assessment of urinary N-acetyl-β-glucosaminidase as an early marker of contrast-induced nephropathy.
  5. In normoalbuminuric/microalbuminuric patients with essential hypertension renal impairment measured by e-GFR is related to the increased urinary NAG activity and albumin/creatinine ratio rather than elevated concentrations of individual proteins.
    Title: Urinary proteins, N-acetyl-β-D-glucosaminidase activity and estimated glomerular filtration rate in hypertensive patients with normoalbuminuria and microalbuminuria.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef ultimately increases the secretion of hexosaminidases due to impairment of GCC2-Rab9 mediated IGF2R (CI-MPR) containing transport vesicles to trans Golgi network from late endosomes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ23825

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyl-beta-D-galactosaminidase activity IEA
Inferred from Electronic Annotation
more info
  
enables beta-N-acetylhexosaminidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hexosaminidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hexosaminidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
hexosaminidase D
Names
N-acetyl-beta-galactosaminidase
beta-N-acetylhexosaminidase
beta-hexosaminidase D
hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing
hexosaminidase D, cytosolic
hexosaminidase domain-containing protein
NP_001317471.1
NP_001356416.1
NP_001356417.1
NP_775891.2
XP_006722343.1
XP_011521862.1
XP_016879973.1
XP_024306473.1
XP_047291740.1
XP_047291741.1
XP_047291742.1
XP_047291743.1
XP_047291744.1
XP_054171732.1
XP_054171733.1
XP_054171734.1
XP_054171735.1
XP_054171736.1
XP_054171737.1
XP_054171738.1
XP_054171739.1
XP_054171740.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001330542.2 → NP_001317471.1  hexosaminidase D isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC132938
    Consensus CDS
    CCDS82231.1
    UniProtKB/Swiss-Prot
    B7UUP6, Q8IYN4, Q8TE81, Q8WVB3
    Related
    ENSP00000332634.9, ENST00000327949.15
    Conserved Domains (1) summary
    cd06565
    Location:9 → 323
    GH20_GcnA-like; Glycosyl hydrolase family 20 (GH20) catalytic domain of N-acetyl-beta-D-glucosaminidase (GcnA, also known as BhsA) and related proteins. GcnA is an exoglucosidase which cleaves N-acetyl-beta-D-galactosamine (NAG) and N-acetyl-beta-D-galactosamine ...

  2. NM_001369487.1 → NP_001356416.1  hexosaminidase D isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC132938
    Conserved Domains (1) summary
    cl02948
    Location:1 → 231
    GH20_hexosaminidase; Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. ...

  3. NM_001369488.1 → NP_001356417.1  hexosaminidase D isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC132938
    Conserved Domains (1) summary
    cl02948
    Location:1 → 231
    GH20_hexosaminidase; Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. ...

  4. NM_173620.3 → NP_775891.2  hexosaminidase D isoform 1

    See identical proteins and their annotated locations for NP_775891.2

    Status: VALIDATED

    Source sequence(s)
    AC132938
    Consensus CDS
    CCDS42402.1
    UniProtKB/Swiss-Prot
    Q8WVB3
    Related
    ENSP00000337854.6, ENST00000337014.10
    Conserved Domains (1) summary
    cd06565
    Location:9 → 323
    GH20_GcnA-like; Glycosyl hydrolase family 20 (GH20) catalytic domain of N-acetyl-beta-D-glucosaminidase (GcnA, also known as BhsA) and related proteins. GcnA is an exoglucosidase which cleaves N-acetyl-beta-D-galactosamine (NAG) and N-acetyl-beta-D-galactosamine ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    82418347..82442645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435788.1 → XP_047291744.1  hexosaminidase D isoform X8

  2. XM_017024484.2 → XP_016879973.1  hexosaminidase D isoform X1

  3. XM_047435786.1 → XP_047291742.1  hexosaminidase D isoform X5

  4. XM_047435785.1 → XP_047291741.1  hexosaminidase D isoform X4

  5. XM_006722280.3 → XP_006722343.1  hexosaminidase D isoform X3

    Conserved Domains (1) summary
    cd06565
    Location:1 → 276
    GH20_GcnA-like; Glycosyl hydrolase family 20 (GH20) catalytic domain of N-acetyl-beta-D-glucosaminidase (GcnA, also known as BhsA) and related proteins. GcnA is an exoglucosidase which cleaves N-acetyl-beta-D-galactosamine (NAG) and N-acetyl-beta-D-galactosamine ...

  6. XM_047435784.1 → XP_047291740.1  hexosaminidase D isoform X4

  7. XM_011523560.3 → XP_011521862.1  hexosaminidase D isoform X2

    Conserved Domains (1) summary
    cd06565
    Location:24 → 287
    GH20_GcnA-like; Glycosyl hydrolase family 20 (GH20) catalytic domain of N-acetyl-beta-D-glucosaminidase (GcnA, also known as BhsA) and related proteins. GcnA is an exoglucosidase which cleaves N-acetyl-beta-D-galactosamine (NAG) and N-acetyl-beta-D-galactosamine ...

  8. XM_024450705.2 → XP_024306473.1  hexosaminidase D isoform X7

  9. XM_047435787.1 → XP_047291743.1  hexosaminidase D isoform X6

RNA

  1. XR_007065292.1 RNA Sequence

  2. XR_007065293.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    83287277..83311569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315765.1 → XP_054171740.1  hexosaminidase D isoform X8

  2. XM_054315757.1 → XP_054171732.1  hexosaminidase D isoform X1

  3. XM_054315762.1 → XP_054171737.1  hexosaminidase D isoform X5

  4. XM_054315761.1 → XP_054171736.1  hexosaminidase D isoform X4

  5. XM_054315759.1 → XP_054171734.1  hexosaminidase D isoform X3

  6. XM_054315760.1 → XP_054171735.1  hexosaminidase D isoform X4

  7. XM_054315758.1 → XP_054171733.1  hexosaminidase D isoform X2

  8. XM_054315764.1 → XP_054171739.1  hexosaminidase D isoform X7

  9. XM_054315763.1 → XP_054171738.1  hexosaminidase D isoform X6

RNA

  1. XR_008484808.1 RNA Sequence

  2. XR_008484809.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVB3.3 GenPept UniProtKB/Swiss-Prot:Q8WVB3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous