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    Tmtc3 Transmembrane O-mannosyltransferase targeting cadherins 3 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 37401, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tmtc3provided by FlyBase
    Official Full Name
    Transmembrane O-mannosyltransferase targeting cadherins 3provided by FlyBase
    Primary source
    FLYBASE:FBgn0020312
    Locus tag
    Dmel_CG4050
    See related
    AllianceGenome:FB:FBgn0020312
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    anon-DM192; anon-j; CG4050; Dmel\CG4050; TMTC3
    Summary
    Predicted to enable dolichyl-phosphate-mannose-protein mannosyltransferase activity. Predicted to be involved in protein O-linked mannosylation. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including central brain primordium; embryonic head sensory system; ganglia; larval nervous system; and ventral nerve cord primordium. Used to study epilepsy. Human ortholog(s) of this gene implicated in lissencephaly 8. Orthologous to human TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Tmtc3 in Genome Data Viewer
    Location:
    57C2-57C2; 2-93 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (21123735..21128510, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (17011240..17016015, complement)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene Gar1 ribonucleoprotein Neighboring gene king tubby Neighboring gene uncharacterized protein Neighboring gene mago nashi Neighboring gene magi Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. Farhan SMK, et al. Hum Mol Genet, 2017 Nov 1. PMID 28973161, Free PMC Article
    2. Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites. Eisenhaber B, et al. Biol Direct, 2021 Jan 12. PMID 33436046, Free PMC Article
    3. Recent Developments in Using Drosophila as a Model for Human Genetic Disease. Oriel C, et al. Int J Mol Sci, 2018 Jul 13. PMID 30011838, Free PMC Article
    4. Protein O-mannosylation: one sugar, several pathways, many functions. Koff M, et al. Glycobiology, 2023 Dec 25. PMID 37565810, Free PMC Article
    5. Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster. Takai A, et al. Int J Mol Sci, 2020 Sep 3. PMID 32899411, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane O-mannosyltransferase targeting cadherins 3
    Names
    CG4050-PA
    CG4050-PB
    Tmtc3-PA
    Tmtc3-PB
    transmembrane and tetratricopeptide repeat containing 3
    NP_477246.2
    NP_726030.1

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033778.4 Reference assembly

      Range
      21123735..21128510 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_057898.4 → NP_477246.2  transmembrane O-mannosyltransferase targeting cadherins 3, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_477246.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O02435, Q24581, Q7K4B6
      UniProtKB/TrEMBL
      E2QCJ5
      Related
      FBpp0071560
      Conserved Domains (3) summary
      TIGR02917
      Location:513 → 871
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:598 → 625
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:323 → 396
      DUF1736; Domain of unknown function (DUF1736)

    2. NM_166426.2 → NP_726030.1  transmembrane O-mannosyltransferase targeting cadherins 3, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_726030.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O02435, Q24581, Q7K4B6
      UniProtKB/TrEMBL
      E2QCJ5
      Related
      FBpp0071561
      Conserved Domains (3) summary
      TIGR02917
      Location:513 → 871
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:598 → 625
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:323 → 396
      DUF1736; Domain of unknown function (DUF1736)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E2QCJ5 E2QCJ5
    Q7K4B6.1 Q7K4B6

    Gene LinkOut

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