U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    tw twisted [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 31024, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    twprovided by FlyBase
    Official Full Name
    twistedprovided by FlyBase
    Primary source
    FLYBASE:FBgn0086368
    Locus tag
    Dmel_CG12311
    See related
    AllianceGenome:FB:FBgn0086368
    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
    CG12311; Dmel\CG12311; DmPOMT2; dPomt2; dPOMT2; DPOMT2; EG:34F3.7; POMT-2; Pomt2; POMT2; Tw
    Summary
    Contributes to dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in several processes, including muscle attachment; protein O-linked mannosylation; and sarcomere organization. Located in endoplasmic reticulum. Part of dolichyl-phosphate-mannose-protein mannosyltransferase complex. Is expressed in several structures, including early stomodeal invagination; embryonic epipharynx; embryonic hypopharynx; epidermis; and gut section. Used to study Walker-Warburg syndrome and muscular dystrophy-dystroglycanopathy. Human ortholog(s) of this gene implicated in lissencephaly and muscular dystrophy (multiple). Orthologous to human POMT2 (protein O-mannosyltransferase 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    1C4-1C4; 1-0 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) X NC_004354.4 (784746..788215)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) X NC_004354.3 (678779..682248)

    Chromosome X - NC_004354.4Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR44966 Neighboring gene frizzled 3 Neighboring gene long non-coding RNA:CR44469 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. The O-mannosyltransferase PMT4 is essential for normal appressorium formation and penetration in Ustilago maydis. Fernández-Alvarez A, et al. Plant Cell, 2009 Oct. PMID 19880800, Free PMC Article
    2. Drosophila Dystroglycan is a target of O-mannosyltransferase activity of two protein O-mannosyltransferases, Rotated Abdomen and Twisted. Nakamura N, et al. Glycobiology, 2010 Mar. PMID 19969597, Free PMC Article
    3. Protein tyrosine phosphatase 69D is a substrate of protein O-mannosyltransferases 1-2 that is required for the wiring of sensory axons in Drosophila. Monagas-Valentin P, et al. J Biol Chem, 2023 Mar. PMID 36634851, Free PMC Article
    4. Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. Willer T, et al. Glycobiology, 2002 Nov. PMID 12460945
    5. The twisted gene encodes Drosophila protein O-mannosyltransferase 2 and genetically interacts with the rotated abdomen gene encoding Drosophila protein O-mannosyltransferase 1. Lyalin D, et al. Genetics, 2006 Jan. PMID 16219785, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study demonstrated that expression of RNA interference (RNAi) for the rt gene and the tw mutant was almost completely lethal and semi-lethal, respectively.
      Title: Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome.
    2. establish a central role for Dystroglycan (Dg) in maintaining integrity in Drosophila larval muscles and demonstrate the importance of glycosylation to Dg function in Drosophila
      Title: Dystroglycan and protein O-mannosyltransferases 1 and 2 are required to maintain integrity of Drosophila larval muscles.
    3. Drosophila POMT1 and POMT2 function as a protein O-mannosyltransferase in association with each other to generate and maintain normal muscle development.
      Title: The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.
    4. molecular cloning and characterization of POMT2
      Title: Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids.
    Submit: New GeneRIF Correction

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    contributes_to dolichyl-phosphate-mannose-protein mannosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to dolichyl-phosphate-mannose-protein mannosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in muscle attachment IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sarcomere organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in somatic muscle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of dolichyl-phosphate-mannose-protein mannosyltransferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    twisted
    Names
    CG12311-PA
    CG12311-PB
    protein O-mannosyltransferase 2
    tricky-dickey
    tw-PA
    tw-PB
    twist
    twisted abdomen

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_004354.4 Reference assembly

      Range
      784746..788215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001272173.1 → NP_001259102.1  twisted, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001259102.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O77437, Q9W5D4
      UniProtKB/TrEMBL
      M9PG53
      Conserved Domains (4) summary
      smart00472
      Location:318 → 374
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:41 → 765
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:44 → 290
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:518 → 763
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    2. NM_130502.3 → NP_569858.1  twisted, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_569858.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O77437, Q9W5D4
      UniProtKB/TrEMBL
      M9PG53
      Related
      FBpp0070134
      Conserved Domains (4) summary
      smart00472
      Location:318 → 374
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:41 → 765
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:44 → 290
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:518 → 763
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    M9PG53 M9PG53
    Q9W5D4.1 Q9W5D4

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous