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    St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 [ Mus musculus (house mouse) ]

    Gene ID: 20454, updated on 21-Apr-2024

    Summary

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    Official Symbol
    St3gal5provided by MGI
    Official Full Name
    ST3 beta-galactoside alpha-2,3-sialyltransferase 5provided by MGI
    Primary source
    MGI:MGI:1339963
    See related
    Ensembl:ENSMUSG00000056091 AllianceGenome:MGI:1339963
    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
    3S-T; [a]2; Siat9
    Summary
    Predicted to enable lactosylceramide alpha-2,3-sialyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be located in Golgi apparatus and membrane. Predicted to be integral component of membrane. Is expressed in several structures, including alimentary system; brain; liver; spleen; and testis. Human ortholog(s) of this gene implicated in salt and pepper syndrome. Orthologous to human ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in liver E18 (RPKM 85.8), ovary adult (RPKM 70.0) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 C1; 6 32.24 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (72074555..72131555)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (72097552..72154571)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9130221F21 gene Neighboring gene STARR-seq mESC enhancer starr_16277 Neighboring gene spermine synthase pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E9667 Neighboring gene RIKEN cDNA 4933431G14 gene Neighboring gene STARR-seq mESC enhancer starr_16279 Neighboring gene STARR-seq mESC enhancer starr_16280 Neighboring gene VISTA enhancer mm123 Neighboring gene atonal bHLH transcription factor 8 Neighboring gene predicted gene, 52906 Neighboring gene predicted gene, 30782

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. GM3 synthase deficiency increases brain glucose metabolism in mice. Bharathi SS, et al. Mol Genet Metab, 2022 Dec. PMID 36335793
    2. Sex-Specific ADHD-like Behaviour, Altered Metabolic Functions, and Altered EEG Activity in Sialyltransferase ST3GAL5-Deficient Mice. Strekalova T, et al. Biomolecules, 2021 Nov 24. PMID 34944404, Free PMC Article
    3. Tumor hypoxia regulates ganglioside GM3 synthase, which contributes to oxidative stress resistance in malignant melanoma. Shimizu T, et al. Biochim Biophys Acta Gen Subj, 2020 Dec. PMID 32861756
    4. Enhanced Susceptibility to Chemoconvulsant-Induced Seizures in Ganglioside GM3 Synthase Knockout Mice. Tang FL, et al. ASN Neuro, 2020 Jan-Dec. PMID 32664815, Free PMC Article
    5. Fresh evidence for major brain gangliosides as a target for the treatment of Alzheimer's disease. Dukhinova M, et al. Neurobiol Aging, 2019 May. PMID 30797170

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Synthetic GM1 improves motor and memory dysfunctions in mice with monoallelic or biallelic disruption of GM3 synthase.
      Title: Synthetic GM1 improves motor and memory dysfunctions in mice with monoallelic or biallelic disruption of GM3 synthase.
    2. GM3 synthase deficiency increases brain glucose metabolism in mice.
      Title: GM3 synthase deficiency increases brain glucose metabolism in mice.
    3. Sex-Specific ADHD-like Behaviour, Altered Metabolic Functions, and Altered EEG Activity in Sialyltransferase ST3GAL5-Deficient Mice.
      Title: Sex-Specific ADHD-like Behaviour, Altered Metabolic Functions, and Altered EEG Activity in Sialyltransferase ST3GAL5-Deficient Mice.
    4. Enhanced Susceptibility to Chemoconvulsant-Induced Seizures in Ganglioside GM3 Synthase Knockout Mice.
      Title: Enhanced Susceptibility to Chemoconvulsant-Induced Seizures in Ganglioside GM3 Synthase Knockout Mice.
    5. Tumor hypoxia regulates ganglioside GM3 synthase, which contributes to oxidative stress resistance in malignant melanoma.
      Title: Tumor hypoxia regulates ganglioside GM3 synthase, which contributes to oxidative stress resistance in malignant melanoma.
    6. HEK-293T clones permanently expressing HaloTag-ST3GAL5 carrying each of the five variants were assessed by quantitative PCR, flow cytometry, western blotting and confocal microscopy. Compared with the very mild phenotype of st3gal5 KO mouse models, the results suggest that unknown mechanisms, in addition to the lack of a-b-c-series gangliosides, contribute to the syndrome.
      Title: Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
    7. A new liver-specific c-type mRNA transcriptional variant of mouse ST3GAL5 protein has been identified.
      Title: Identification of a new liver-specific c-type mRNA transcriptional variant for mouse ST3GAL5 (GM3/GM4 synthase).
    8. We used GM2/GD2 synthase (B4galnt1)-deficient mice to immunize by liposomes embedded with GD1alpha or acidic glycolipid fractions from brain of St3gal5-deficient mice. Specificities of established mAbs as analyzed by enzyme-linked immunosorbent assay and thin-layer chromatography-immunostaining were very high among various gangliosides.
      Title: Expression analysis of 0-series gangliosides in human cancer cell lines with monoclonal antibodies generated using knockout mice of ganglioside synthase genes.
    9. These studies establish ganglioside GM3 as a new candidate responsible for neuropathic pain and small fiber neuropathy in diabetes.
      Title: Ganglioside GM3 synthase depletion reverses neuropathic pain and small fiber neuropathy in diet-induced diabetic mice.
    10. R/K-based motif is necessary for the Golgi retention of ST3G5 .
      Title: The regulation of ER export and Golgi retention of ST3Gal5 (GM3/GM4 synthase) and B4GalNAcT1 (GM2/GD2/GA2 synthase) by arginine/lysine-based motif adjacent to the transmembrane domain.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lactosylceramide alpha-2,3-sialyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lactosylceramide alpha-2,3-sialyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables sialyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    lactosylceramide alpha-2,3-sialyltransferase
    Names
    CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase
    GM3 synthase
    GM3-specific sialytransferase
    ST3GalV
    ganglioside GM3 synthase
    mST3Gal V
    sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase)
    NP_001030305.1
    NP_001397278.1
    NP_001397279.1
    NP_001397280.1
    NP_001397281.1
    NP_001397282.1
    NP_001397283.1
    NP_035505.2
    XP_006505882.1
    XP_017176962.1

    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_001035228.3 → NP_001030305.1  lactosylceramide alpha-2,3-sialyltransferase isoform a

      See identical proteins and their annotated locations for NP_001030305.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AC127244
      Consensus CDS
      CCDS20237.1
      UniProtKB/Swiss-Prot
      B2RRS1, O88829, Q3TMT6, Q3TY01, Q91YF2, Q91YF3, Q9CZ65, Q9QWF8, Q9QWF9
      Related
      ENSMUSP00000070414.5, ENSMUST00000069994.11
      Conserved Domains (1) summary
      pfam00777
      Location:151 → 409
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. NM_001410349.1 → NP_001397278.1  lactosylceramide alpha-2,3-sialyltransferase isoform b

      Status: VALIDATED

      Source sequence(s)
      AC127244
      UniProtKB/TrEMBL
      A0A0R4J1J3

    3. NM_001410350.1 → NP_001397279.1  lactosylceramide alpha-2,3-sialyltransferase isoform b

      Status: VALIDATED

      Source sequence(s)
      AC127244
      UniProtKB/TrEMBL
      A0A0R4J1J3

    4. NM_001410351.1 → NP_001397280.1  lactosylceramide alpha-2,3-sialyltransferase isoform c

      Status: VALIDATED

      Source sequence(s)
      AC127244

    5. NM_001410352.1 → NP_001397281.1  lactosylceramide alpha-2,3-sialyltransferase isoform d

      Status: VALIDATED

      Source sequence(s)
      AC127244

    6. NM_001410353.1 → NP_001397282.1  lactosylceramide alpha-2,3-sialyltransferase isoform d

      Status: VALIDATED

      Source sequence(s)
      AC127244

    7. NM_001410354.1 → NP_001397283.1  lactosylceramide alpha-2,3-sialyltransferase isoform e

      Status: VALIDATED

      Source sequence(s)
      AC127244

    8. NM_011375.4 → NP_035505.2  lactosylceramide alpha-2,3-sialyltransferase isoform b

      See identical proteins and their annotated locations for NP_035505.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus, compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AC127244
      Consensus CDS
      CCDS39510.1
      UniProtKB/TrEMBL
      A0A0R4J1J3
      Related
      ENSMUSP00000109747.2, ENSMUST00000114112.4
      Conserved Domains (1) summary
      pfam00777
      Location:115 → 382
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    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

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      72074555..72131555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505819.4 → XP_006505882.1  lactosylceramide alpha-2,3-sialyltransferase isoform X3

      See identical proteins and their annotated locations for XP_006505882.1

      Conserved Domains (1) summary
      pfam00777
      Location:58 → 325
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. XM_017321473.1 → XP_017176962.1  lactosylceramide alpha-2,3-sialyltransferase isoform X3

      Conserved Domains (1) summary
      pfam00777
      Location:58 → 325
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RNA

    1. XR_004942927.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O88829.2 GenPept UniProtKB/Swiss-Prot:O88829

    Gene LinkOut

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