Hexb hexosaminidase subunit beta [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Hexbprovided by RGD
Official Full Name: hexosaminidase subunit betaprovided by RGD
Primary source: RGD:1307607
See related: EnsemblRapid:ENSRNOG00000025274 AllianceGenome:RGD:1307607
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables beta-N-acetylglucosaminidase activity; carbohydrate binding activity; and identical protein binding activity. Involved in N-acetylglucosamine metabolic process. Located in lysosome. 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]
Expression: Biased expression in Kidney (RPKM 625.9), Brain (RPKM 237.5) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 2q12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (30218608..30238771, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (28483997..28504165, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (27983925..28003260, complement)

Chromosome 2 - NC_086020.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Markers

RH139614 (e-PCR)
- UniSTS:221698

RH140471 (e-PCR)
- UniSTS:222544

RH127734 (e-PCR)
- UniSTS:211044

Hexb (e-PCR), detects polymorphism
- UniSTS:508010

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables N-acetyl-beta-D-galactosaminidase activity	IEA Inferred from Electronic Annotation more info
enables acetylglucosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables beta-N-acetylglucosaminidase activity	IDA Inferred from Direct Assay more info	PubMed
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 beta-N-acetylhexosaminidase activity	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	IDA Inferred from Direct Assay more info	PubMed
enables hexosaminidase activity	IDA Inferred from Direct Assay more info	PubMed
enables hexosaminidase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in N-acetylglucosamine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in astrocyte cell migration	IEA Inferred from Electronic Annotation more info
involved_in astrocyte cell migration	ISO Inferred from Sequence Orthology more info
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate catabolic process	ISO Inferred from Sequence Orthology more info
involved_in dermatan sulfate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in dermatan sulfate catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ganglioside catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ganglioside catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ganglioside catabolic process	ISO Inferred from Sequence Orthology more info
involved_in ganglioside catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycosaminoglycan metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within glycosaminoglycan metabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycosaminoglycan metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycosphingolipid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in hyaluronan catabolic process	IEA Inferred from Electronic Annotation more info
involved_in hyaluronan catabolic process	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid storage	ISO Inferred from Sequence Orthology more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within locomotory behavior	ISO Inferred from Sequence Orthology more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in maintenance of location in cell	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within maintenance of location in cell	ISO Inferred from Sequence Orthology more info
involved_in male courtship behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within male courtship behavior	ISO Inferred from Sequence Orthology more info
involved_in myelination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myelination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular process	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuromuscular process controlling balance	ISO Inferred from Sequence Orthology more info
involved_in neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in oligosaccharide catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within oligosaccharide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within oogenesis	ISO Inferred from Sequence Orthology more info
involved_in penetration of zona pellucida	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within penetration of zona pellucida	ISO Inferred from Sequence Orthology more info
involved_in phospholipid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within phospholipid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell shape	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sexual reproduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within single fertilization	ISO Inferred from Sequence Orthology more info
involved_in single fertilization	ISO Inferred from Sequence Orthology more info
involved_in single fertilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal system development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in azurophil granule	IEA Inferred from Electronic Annotation more info
located_in azurophil granule	ISO Inferred from Sequence Orthology more info
part_of beta-N-acetylhexosaminidase complex	IEA Inferred from Electronic Annotation more info
part_of beta-N-acetylhexosaminidase complex	ISO Inferred from Sequence Orthology more info
located_in cortical granule	IEA Inferred from Electronic Annotation more info
located_in cortical granule	ISO Inferred from Sequence Orthology more info
located_in cortical granule	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology 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 lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: beta-hexosaminidase subunit beta

Names: N-acetyl-beta-glucosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; hexosaminidase B; hexosaminidase subunit B

NP_001011946.1

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_001011946.2 → NP_001011946.1 beta-hexosaminidase subunit beta precursor

See identical proteins and their annotated locations for NP_001011946.1

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000002

UniProtKB/Swiss-Prot

Q6AXR4

UniProtKB/TrEMBL

A6I523, F1LR87

Related

ENSRNOP00000081104.1, ENSRNOT00000097138.2

Conserved Domains (2) summary

cd06562
Location:178 → 518

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:34 → 156

Glycohydro_20b2; beta-acetyl hexosaminidase like