Hexd hexosaminidase D [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hexdprovided by MGI
Official Full Name: hexosaminidase Dprovided 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: Hexdc
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: human all
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Genomic context

Location:: 11 E2; 11 85.08 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

lipid-droplet-targeted isoform is a key regulator of the proteasome
Title: A lipid-droplet-targeted O-GlcNAcase isoform is a key regulator of the proteasome.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

General gene information

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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
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

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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 domain-containing protein

NP_001001333.2

EC 3.2.1.52

NP_001139545.1

EC 3.2.1.52

XP_006533327.1

EC 3.2.1.52

XP_006533328.1

EC 3.2.1.52

XP_006533329.1

EC 3.2.1.52

XP_006533330.1

EC 3.2.1.52

XP_006533331.1

EC 3.2.1.52

XP_006533332.1

EC 3.2.1.52

XP_011247304.1

EC 3.2.1.52

XP_017170034.1

EC 3.2.1.52

XP_036012570.1

EC 3.2.1.52

XP_036012571.1

EC 3.2.1.52

XP_036012572.1

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_001001333.2 → NP_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

B7UUP4, B7UUP5, Q3U4H6, Q6NSQ8

UniProtKB/TrEMBL

F6UV46

Related

ENSMUSP00000101723.2, ENSMUST00000106117.8

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_001146073.1 → NP_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/TrEMBL

F6UV46

Related

ENSMUSP00000123073.2, ENSMUST00000151495.8

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

121095187..121113485

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156678.1 → XP_036012571.1 hexosaminidase D isoform X4

UniProtKB/Swiss-Prot

B7UUP4, B7UUP5, Q3U4H6, Q6NSQ8

UniProtKB/TrEMBL

F6UV46

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 ...
XM_006533264.4 → XP_006533327.1 hexosaminidase D isoform X2

See identical proteins and their annotated locations for XP_006533327.1

UniProtKB/TrEMBL

F6UV46

Related

ENSMUSP00000048479.9, ENSMUST00000038831.15

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 ...
XM_006533265.5 → XP_006533328.1 hexosaminidase D isoform X2

See identical proteins and their annotated locations for XP_006533328.1

UniProtKB/TrEMBL

F6UV46

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 ...
XM_006533269.4 → XP_006533332.1 hexosaminidase D isoform X2

See identical proteins and their annotated locations for XP_006533332.1

UniProtKB/TrEMBL

F6UV46

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 ...
XM_006533266.3 → XP_006533329.1 hexosaminidase D isoform X2

See identical proteins and their annotated locations for XP_006533329.1

UniProtKB/TrEMBL

F6UV46

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 ...
XM_006533267.4 → XP_006533330.1 hexosaminidase D isoform X2

See identical proteins and their annotated locations for XP_006533330.1

UniProtKB/TrEMBL

F6UV46

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 ...
XM_006533268.5 → XP_006533331.1 hexosaminidase D isoform X2

See identical proteins and their annotated locations for XP_006533331.1

UniProtKB/TrEMBL

F6UV46

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 ...
XM_036156677.1 → XP_036012570.1 hexosaminidase D isoform X1

UniProtKB/TrEMBL

F6UV46

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

UniProtKB/TrEMBL

F6UV46

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

UniProtKB/TrEMBL

F7B4F0

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

Conserved Domains (1) summary

cl02948
Location:1 → 195

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. ...