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HEXD hexosaminidase D [ Homo sapiens (human) ]

Gene ID: 284004, updated on 5-Aug-2022

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, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 11.1), prostate (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

See HEXD in Genome Data Viewer
Location:
17q25.3
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82418347..82442645)
110 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 uncharacterized LOC124904090 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 3 Neighboring gene uncharacterized LOC124904091 Neighboring gene HEXD intronic transcript 1 Neighboring gene cytochrome b-245 chaperone 1 Neighboring gene NARF antisense RNA 2 Neighboring gene nuclear prelamin A recognition factor Neighboring gene tRNA-iMet (anticodon CAT) 1-8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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

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

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_001330542.2NP_001317471.1  hexosaminidase D isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC132938
    Consensus CDS
    CCDS82231.1
    UniProtKB/Swiss-Prot
    Q8TE81, Q8WVB3
    Related
    ENSP00000332634.9, ENST00000327949.15
    Conserved Domains (1) summary
    cd06565
    Location:9323
    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_001369487.1NP_001356416.1  hexosaminidase D isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC132938
    Conserved Domains (1) summary
    cl02948
    Location:1231
    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_001369488.1NP_001356417.1  hexosaminidase D isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC132938
    Conserved Domains (1) summary
    cl02948
    Location:1231
    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_173620.3NP_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:9323
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047435788.1XP_047291744.1  hexosaminidase D isoform X8

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

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

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

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

    Conserved Domains (1) summary
    cd06565
    Location:1276
    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_047435784.1XP_047291740.1  hexosaminidase D isoform X4

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

    Conserved Domains (1) summary
    cd06565
    Location:24287
    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_024450705.2XP_024306473.1  hexosaminidase D isoform X7

  9. XM_047435787.1XP_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)