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    HEXD hexosaminidase D [ Homo sapiens (human) ]

    Gene ID: 284004, updated on 28-Oct-2024

    Summary

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    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, Oct 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 11.1), prostate (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEXD in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82418347..82442645)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83287277..83311569)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23825

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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

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    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)

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    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_2024_08

    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.

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