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    mfr misfire [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 39016, updated on 10-May-2024

    Summary

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    Official Symbol
    mfrprovided by FlyBase
    Official Full Name
    misfireprovided by FlyBase
    Primary source
    FLYBASE:FBgn0266757
    Locus tag
    Dmel_CG5747
    See related
    AllianceGenome:FB:FBgn0266757
    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
    CG5747; Dmel\CG5747; Otoferlin
    Summary
    Involved in germ cell development; regulation of embryonic development; and single fertilization. Predicted to be located in synaptic vesicle. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; autosomal recessive nonsyndromic deafness 9; distal muscular dystrophy with anterior tibial onset; and muscular dystrophy. Orthologous to several human genes including FER1L6 (fer-1 like family member 6). [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    all
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    Genomic context

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    See mfr in Genome Data Viewer
    Location:
    66E3-66E3; 3-27 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (8905918..8912671, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (8899018..8905771, complement)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene antisense RNA:CR45871 Neighboring gene transfer RNA:Threonine-AGT 3-1 pseudogene Neighboring gene Minichromosome maintenance 7 Neighboring gene Transient receptor potential cation channel A1 Neighboring gene long non-coding RNA:CR43970 Neighboring gene Tetraspanin 66E Neighboring gene uncharacterized protein Neighboring gene orb2

    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. The Drosophila misfire gene has an essential role in sperm activation during fertilization. Ohsako T, et al. Genes Genet Syst, 2003 Jun. PMID 12893967
    2. Complex regulation and multiple developmental functions of misfire, the Drosophila melanogaster ferlin gene. Smith MK, et al. BMC Dev Biol, 2007 Mar 26. PMID 17386097, Free PMC Article
    3. The N-ethylmaleimide-sensitive factor and dysbindin interact to modulate synaptic plasticity. Gokhale A, et al. J Neurosci, 2015 May 13. PMID 25972187, Free PMC Article
    4. The genetic architecture of larval aggregation behavior in Drosophila. McKinney RM, et al. J Neurogenet, 2021 Sep. PMID 33629904
    5. Genetic and molecular analysis of the synaptotagmin family. Adolfsen B, et al. Cell Mol Life Sci, 2001 Mar. PMID 11315187

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Process Evidence Code Pubs
    involved_in chorion-containing eggshell pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in egg activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in plasma membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm capacitation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm plasma membrane disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic vesicle exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    misfire
    Names
    CG5747-PB
    CG5747-PC
    CG5747-PD
    CG5747-PE
    CG5747-PF
    CG5747-PI
    CG5747-PJ
    mfr-PB
    mfr-PC
    mfr-PD
    mfr-PE
    mfr-PF
    mfr-PI
    mfr-PJ
    otoferlin

    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_037436.4 Reference assembly

      Range
      8905918..8912671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144444.2 → NP_001137916.1  misfire, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137916.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A4UGS5, B7Z0E9
      Conserved Domains (4) summary
      cd04017
      Location:450 → 610
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:947 → 1069
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1180 → 1309
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      cl14603
      Location:3 → 85
      C2; C2 domain

    2. NM_001144446.2 → NP_001137918.1  misfire, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137918.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A4UGS7, B7Z0F1
      Conserved Domains (1) summary
      cd04017
      Location:360 → 520
      C2D_Ferlin; C2 domain fourth repeat in Ferlin

    3. NM_001144447.2 → NP_001137919.1  misfire, isoform F [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137919.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A4UGS1, B7Z0E5
      Conserved Domains (5) summary
      cd04017
      Location:658 → 818
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:1155 → 1277
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1388 → 1517
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam16165
      Location:1524 → 1619
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:12 → 122
      C2; C2 domain

    4. NM_001144443.2 → NP_001137915.1  misfire, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137915.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A4UGS4, B7Z0F0
      Conserved Domains (3) summary
      cd04017
      Location:115 → 275
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:612 → 734
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:845 → 974
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    5. NM_001144445.2 → NP_001137917.1  misfire, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137917.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A4UGS3, B7Z0E7
      Conserved Domains (4) summary
      cd04017
      Location:362 → 522
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:859 → 981
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1092 → 1221
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam16165
      Location:1228 → 1323
      Ferlin_C; Ferlin C-terminus

    6. NM_001144448.2 → NP_001137920.1  misfire, isoform I [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137920.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A4UGS2, B7Z0E6
      Conserved Domains (5) summary
      cd04017
      Location:450 → 610
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:947 → 1069
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1180 → 1309
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam16165
      Location:1316 → 1411
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:3 → 85
      C2; C2 domain

    7. NM_001144449.2 → NP_001137921.1  misfire, isoform J [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137921.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A4UGS6, B7Z0E8
      Conserved Domains (3) summary
      cd04037
      Location:156 → 278
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:389 → 518
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      pfam16165
      Location:525 → 620
      Ferlin_C; Ferlin C-terminus
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B7Z0E5 B7Z0E5
    B7Z0E6 B7Z0E6
    B7Z0E7 B7Z0E7
    B7Z0E8 B7Z0E8
    B7Z0E9 B7Z0E9
    B7Z0F0 B7Z0F0
    B7Z0F1 B7Z0F1

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