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    Hexa hexosaminidase subunit alpha [ Rattus norvegicus (Norway rat) ]

    Gene ID: 300757, updated on 10-Jul-2024

    Summary

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    Official Symbol
    Hexaprovided by RGD
    Official Full Name
    hexosaminidase subunit alphaprovided by RGD
    Primary source
    RGD:2792
    See related
    EnsemblRapid:ENSRNOG00000010252 AllianceGenome:RGD:2792
    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
    Predicted to enable acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; and protein heterodimerization activity. Predicted to be involved in ganglioside catabolic process and glycosaminoglycan biosynthetic process. Predicted to act upstream of or within several processes, including SMAD protein signal transduction; adult walking behavior; and nervous system development. Predicted to be located in azurophil granule and cytosol. Predicted to be active in lysosome and membrane. Human ortholog(s) of this gene implicated in Tay-Sachs disease. Orthologous to human HEXA (hexosaminidase subunit alpha). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Kidney (RPKM 753.1), Adrenal (RPKM 497.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Hexa in Genome Data Viewer
    Location:
    8q24
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (68832524..68857462)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (59936526..59961654)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (64325435..64350775)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene cyclin-dependent kinases regulatory subunit 2-like Neighboring gene transmembrane protein 202 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene CUGBP, Elav-like family member 6 Neighboring gene poly (ADP-ribose) polymerase family, member 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Postnatal development and regulation of beta-hexosaminidase in epithelial cells of the rat epididymis. Hermo L, et al. J Androl, 2004 Jan-Feb. PMID 14662788
    2. Pharmacological modification of the serotonergic transmitter system and beta-N-acetylhexosaminidase activity in rats. Casal JA, et al. Life Sci, 2000 Sep 29. PMID 11065183
    3. Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice. Guidotti JE, et al. Hum Mol Genet, 1999 May. PMID 10196372
    4. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Platt FM, et al. Science, 1997 Apr 18. PMID 9103204
    5. Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Cohen-Tannoudji M, et al. Mamm Genome, 1995 Dec. PMID 8747922

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. different regulatory factors are responsible for onset of Hex expression in these cell types during development.
      Title: Postnatal development and regulation of beta-hexosaminidase in epithelial cells of the rat epididymis.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC95289

    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 ISO
    Inferred from Sequence Orthology
    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 beta-N-acetylhexosaminidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables beta-N-acetylhexosaminidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within adult walking behavior ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell morphogenesis involved in neuron differentiation ISO
    Inferred from Sequence Orthology
    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
    		  
    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 biosynthetic process ISO
    Inferred from Sequence Orthology
    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
    		  
    involved_in hyaluronan catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid storage ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within locomotory behavior ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within maintenance of location in cell ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within myelination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuromuscular process controlling balance ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuromuscular process controlling posture ISO
    Inferred from Sequence Orthology
    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 skeletal system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in azurophil granule ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of beta-N-acetylhexosaminidase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle 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 ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    beta-hexosaminidase subunit alpha
    Names
    Hexose aminidase A (alpha polypeptide)
    N-acetyl-beta-glucosaminidase subunit alpha
    beta-N-acetylhexosaminidase subunit alpha
    hexosaminidase A
    hexosaminidase subunit A
    NP_001004443.1
    XP_017451050.1
    XP_063121199.1

    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_001004443.1 → NP_001004443.1  beta-hexosaminidase subunit alpha precursor

      See identical proteins and their annotated locations for NP_001004443.1

      Status: PROVISIONAL

      Source sequence(s)
      BC082097
      UniProtKB/Swiss-Prot
      Q641X3
      UniProtKB/TrEMBL
      A0A8L2Q7B4, A6J526
      Related
      ENSRNOP00000013747.5, ENSRNOT00000013747.6
      Conserved Domains (2) summary
      cd06562
      Location:167 → 510
      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:24 → 145
      Glycohydro_20b2; beta-acetyl hexosaminidase like

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      68832524..68857462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063265129.1 → XP_063121199.1  beta-hexosaminidase subunit alpha isoform X2

    2. XM_017595561.3 → XP_017451050.1  beta-hexosaminidase subunit alpha isoform X1

      UniProtKB/TrEMBL
      A0A8L2Q7B4
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q641X3.1 GenPept UniProtKB/Swiss-Prot:Q641X3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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