HEXD hexosaminidase D [Homo sapiens (human)] - Gene

Summary

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, Nov 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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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?
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.
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.

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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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH101958 (e-PCR)
- UniSTS:96293

G06994 (e-PCR)
- UniSTS:66249

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-N-acetylglucosaminidase 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

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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

EC 3.2.1.52

NP_001356416.1

EC 3.2.1.52

NP_001356417.1

EC 3.2.1.52

NP_775891.2

EC 3.2.1.52

XP_006722343.1

EC 3.2.1.52

XP_011521862.1

EC 3.2.1.52

XP_016879973.1

EC 3.2.1.52

XP_024306473.1

EC 3.2.1.52

XP_047291740.1

EC 3.2.1.52

XP_047291741.1

EC 3.2.1.52

XP_047291742.1

EC 3.2.1.52

XP_047291743.1

EC 3.2.1.52

XP_047291744.1

EC 3.2.1.52

XP_054171732.1

EC 3.2.1.52

XP_054171733.1

EC 3.2.1.52

XP_054171734.1

EC 3.2.1.52

XP_054171735.1

EC 3.2.1.52

XP_054171736.1

EC 3.2.1.52

XP_054171737.1

EC 3.2.1.52

XP_054171738.1

EC 3.2.1.52

XP_054171739.1

EC 3.2.1.52

XP_054171740.1

EC 3.2.1.52

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)

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 ...
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. ...
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. ...
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

82418347..82442645

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435788.1 → XP_047291744.1 hexosaminidase D isoform X8
XM_017024484.2 → XP_016879973.1 hexosaminidase D isoform X1
XM_047435786.1 → XP_047291742.1 hexosaminidase D isoform X5
XM_047435785.1 → XP_047291741.1 hexosaminidase D isoform X4
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 ...
XM_047435784.1 → XP_047291740.1 hexosaminidase D isoform X4
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 ...
XM_024450705.2 → XP_024306473.1 hexosaminidase D isoform X7
XM_047435787.1 → XP_047291743.1 hexosaminidase D isoform X6