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mfr misfire [ Drosophila melanogaster (fruit fly) ]

Gene ID: 39016, updated on 29-Dec-2023

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]
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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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