hexb hexosaminidase B (beta polypeptide) [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: hexbprovided by ZNC
Official Full Name: hexosaminidase B (beta polypeptide)provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2333
See related: Ensembl:ENSDARG00000034368 AllianceGenome:ZFIN:ZDB-GENE-030131-2333
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: hexa; fc04h11; wu:fc04h11; wu:fv09f06; si:dkey-35i22.2
Summary: Enables hexosaminidase activity. Acts upstream of or within angiogenesis. Predicted to be active in lysosome and membrane. Used to study lysosomal storage disease. Human ortholog(s) of this gene implicated in Sandhoff disease and spinal muscular atrophy. Orthologous to human HEXB (hexosaminidase subunit beta). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (34600369..34616639, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (34000216..34016487, complement)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hexb deficient zebrafish (hexb(-/-) ) showed lysosomal abnormalities already early in development both in radial glia, which are the neuronal and glial progenitors, and in microglia. Additionally, at 5 days postfertilization, hexb(-/-) zebrafish showed reduced locomotor activity. Although specific oligosaccharides accumulate in the adult brain, hexb(-/-) ) zebrafish are viable and apparently resistant to Hexb deficiency.
Title: Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

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General gene information

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Markers

AI629215 (e-PCR)
- UniSTS:206124

fc60c11.y1 (e-PCR)
- UniSTS:194153

fc15g10.x1 (e-PCR)
- UniSTS:192746

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables N-acetyl-beta-D-galactosaminidase activity	IEA Inferred from Electronic Annotation more info
enables beta-N-acetylhexosaminidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-N-acetylhexosaminidase activity	IEA Inferred from Electronic Annotation more info
enables hexosaminidase activity	IMP Inferred from Mutant Phenotype 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
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosaminoglycan metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cortical granule	IEA Inferred from Electronic Annotation more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: beta-hexosaminidase subunit beta

NP_001108317.1

EC 3.2.1.52

NP_001296792.1

EC 3.2.1.52

XP_005171848.1

EC 3.2.1.52

XP_009299722.1

EC 3.2.1.52

XP_009299723.1

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_001114845.2 → NP_001108317.1 beta-hexosaminidase subunit beta isoform 1 precursor

See identical proteins and their annotated locations for NP_001108317.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

FP016255

UniProtKB/TrEMBL

A0A8N7UYS4, A2BHD8

Related

ENSDARP00000050270.7, ENSDART00000050271.9

Conserved Domains (2) summary

cd06562
Location:182 → 523

GH20_HexA_HexB-like; Beta-N-acetylhexosaminidases 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. The hexA and hexB genes encode the ...

pfam14845
Location:37 → 160

Glycohydro_20b2; beta-acetyl hexosaminidase like
NM_001309863.1 → NP_001296792.1 beta-hexosaminidase subunit beta isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

FP016255

UniProtKB/TrEMBL

A0A8M1P2A4, F1QUU0

Related

ENSDARP00000088748.3, ENSDART00000097975.4

Conserved Domains (2) summary

pfam14845
Location:37 → 160

Glycohydro_20b2; beta-acetyl hexosaminidase like

cl02948
Location:182 → 456

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. ...

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007116.7 Reference GRCz11 Primary Assembly

Range

34600369..34616639 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005171791.4 → XP_005171848.1 beta-hexosaminidase subunit beta isoform X3

UniProtKB/TrEMBL

A0A8M2BJ34

Conserved Domains (2) summary

cd06562
Location:182 → 524

GH20_HexA_HexB-like; Beta-N-acetylhexosaminidases 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. The hexA and hexB genes encode the ...

pfam14845
Location:37 → 160

Glycohydro_20b2; beta-acetyl hexosaminidase like
XM_009301447.3 → XP_009299722.1 beta-hexosaminidase subunit beta isoform X1

UniProtKB/TrEMBL

A0A8M3B2G3

Conserved Domains (2) summary

cd06562
Location:182 → 526

GH20_HexA_HexB-like; Beta-N-acetylhexosaminidases 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. The hexA and hexB genes encode the ...

pfam14845
Location:37 → 160

Glycohydro_20b2; beta-acetyl hexosaminidase like
XM_009301448.3 → XP_009299723.1 beta-hexosaminidase subunit beta isoform X2

UniProtKB/TrEMBL

A0A8M3AZK9

Conserved Domains (2) summary

cd06562
Location:182 → 525

GH20_HexA_HexB-like; Beta-N-acetylhexosaminidases 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. The hexA and hexB genes encode the ...

pfam14845
Location:37 → 160

Glycohydro_20b2; beta-acetyl hexosaminidase like