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Hexdc hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing [ Mus musculus (house mouse) ]

Gene ID: 238023, updated on 26-Sep-2022

Summary

Official Symbol
Hexdcprovided by MGI
Official Full Name
hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containingprovided by MGI
Primary source
MGI:MGI:3605542
See related
Ensembl:ENSMUSG00000039307 AllianceGenome:MGI:3605542
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Hexd
Summary
Enables beta-N-acetylhexosaminidase activity. Predicted to be involved in carbohydrate metabolic process. Located in cytoplasm and nucleus. Orthologous to human HEXD (hexosaminidase D). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 23.6), whole brain E14.5 (RPKM 14.2) and 28 other tissues See more
Orthologs
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Genomic context

See Hexdc in Genome Data Viewer
Location:
11; 11 E2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (121095187..121113485)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (121204353..121222657)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene urotensin 2 receptor Neighboring gene bromodomain containing 4 pseudogene Neighboring gene 2-oxoglutarate and iron-dependent oxygenase domain containing 3 Neighboring gene cytochrome b 245 chaperone 1 Neighboring gene nuclear prelamin A recognition factor Neighboring gene forkhead box K2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 

General gene information

Homology

Clone Names

  • MGC78289

Gene Ontology Provided by MGI

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 beta-N-acetylhexosaminidase activity ISO
Inferred from Sequence Orthology
more info
 
enables hexosaminidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables hexosaminidase activity ISO
Inferred from Sequence Orthology
more info
 
enables hexosaminidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular vesicle ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hexosaminidase D
Names
N-acetyl-beta-galactosaminidase
beta-N-acetylhexosaminidase
beta-hexosaminidase D
hexosaminidase domain-containing protein
NP_001001333.2
NP_001139545.1
XP_006533327.1
XP_006533328.1
XP_006533329.1
XP_006533330.1
XP_006533331.1
XP_006533332.1
XP_011247304.1
XP_017170034.1
XP_036012570.1
XP_036012571.1
XP_036012572.1

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_001001333.2NP_001001333.2  hexosaminidase D isoform 2

    See identical proteins and their annotated locations for NP_001001333.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI481765, BC056487, BY206924, BY242213, BY263070, FM204885
    Consensus CDS
    CCDS49013.1
    UniProtKB/Swiss-Prot
    Q3U4H6, Q6NSQ8
    Related
    ENSMUSP00000101723.2, ENSMUST00000106117.8
    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_001146073.1NP_001139545.1  hexosaminidase D isoform 1

    See identical proteins and their annotated locations for NP_001139545.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AI481765, BC056487, BY296469, FM204886
    UniProtKB/Swiss-Prot
    Q3U4H6
    Related
    ENSMUSP00000123073.2, ENSMUST00000151495.8
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    121095187..121113485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156678.1XP_036012571.1  hexosaminidase D isoform X4

    UniProtKB/Swiss-Prot
    Q6NSQ8
    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. XM_006533264.4XP_006533327.1  hexosaminidase D isoform X2

    See identical proteins and their annotated locations for XP_006533327.1

    UniProtKB/Swiss-Prot
    Q3U4H6
    Related
    ENSMUSP00000048479.9, ENSMUST00000038831.15
    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 ...
  3. XM_006533265.5XP_006533328.1  hexosaminidase D isoform X2

    See identical proteins and their annotated locations for XP_006533328.1

    UniProtKB/Swiss-Prot
    Q3U4H6
    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 ...
  4. XM_006533269.4XP_006533332.1  hexosaminidase D isoform X2

    See identical proteins and their annotated locations for XP_006533332.1

    UniProtKB/Swiss-Prot
    Q3U4H6
    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 ...
  5. XM_006533266.3XP_006533329.1  hexosaminidase D isoform X2

    See identical proteins and their annotated locations for XP_006533329.1

    UniProtKB/Swiss-Prot
    Q3U4H6
    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 ...
  6. XM_006533267.4XP_006533330.1  hexosaminidase D isoform X2

    See identical proteins and their annotated locations for XP_006533330.1

    UniProtKB/Swiss-Prot
    Q3U4H6
    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 ...
  7. XM_006533268.5XP_006533331.1  hexosaminidase D isoform X2

    See identical proteins and their annotated locations for XP_006533331.1

    UniProtKB/Swiss-Prot
    Q3U4H6
    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 ...
  8. XM_036156677.1XP_036012570.1  hexosaminidase D isoform X1

    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 ...
  9. XM_011249002.3XP_011247304.1  hexosaminidase D isoform X3

    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 ...
  10. XM_036156679.1XP_036012572.1  hexosaminidase D isoform X5

    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 ...
  11. XM_017314545.3XP_017170034.1  hexosaminidase D isoform X6

    Conserved Domains (1) summary
    cl02948
    Location:1195
    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. ...

RNA

  1. XR_004936958.1 RNA Sequence

  2. XR_004936959.1 RNA Sequence

  3. XR_879650.1 RNA Sequence

  4. XR_004936960.1 RNA Sequence