FB2024_04 , released June 25, 2024
Gene: Dmel\Mitofilin
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General Information
Symbol
Dmel\Mitofilin
Species
D. melanogaster
Name
Mitofilin
Annotation Symbol
CG6455
Feature Type
protein_coding_gene
FlyBase ID
FBgn0019960
Gene Model Status
Current
Stock Availability
7 publicly available
Gene Summary
Mitofilin (Mitofilin) encodes a major component of the mitochondrial contact site (MICOS) complex, which is located at the mitochondrial crista junctions. It maintains crista structure and contact sites, and regulates mitochondrial motility. Mitofilin product functions downstream of the kinase encoded by Pink1, to maintain mitochondrial structure and cellular homeostasis. [Date last reviewed: 2018-10-04] (FlyBase Gene Snapshot)
All Summaries
Also Known As

dMIC60, MIC60, Motor protein, Motor-protein

Key Links
Genomic Location
Cytogenetic map
94A1-94A1
Sequence location
Recombination map
3-74
RefSeq locus
NT_033777 REGION:22019505..22023335
Sequence
Get Decorated FASTA
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
NCBI
UCSC
Ensembl
PopFly
Function
Gene Ontology (GO) Annotations (8 terms)
Molecular Function (2 terms)
Terms Based on Experimental Evidence (2 terms)
CV Term
Evidence
References
enables ATP-dependent protein binding
inferred from physical interaction with FLYBASE:Pink1; FB:FBgn0029891
(Tsai et al., 2018)
enables protein kinase binding
inferred from physical interaction with FLYBASE:Pink1; FB:FBgn0029891
(Tsai et al., 2018)
Terms Based on Predictions or Assertions (0 terms)
Biological Process (2 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
involved_in mitochondrion organization
inferred from mutant phenotype
(Tsai et al., 2018, Tsai et al., 2017, Banerjee and Chinthapalli, 2014)
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
involved_in cristae formation
inferred from biological aspect of ancestor with PANTHER:PTN000395816
(GO Reference Genome Project, 2011-)
Cellular Component (4 terms)
Terms Based on Experimental Evidence (3 terms)
CV Term
Evidence
References
located_in cytoplasm
inferred from direct assay
(Tsai et al., 2018)
part_of MICOS complex
inferred from direct assay
(Stephan et al., 2024, Benincá et al., 2021)
located_in mitochondrion
inferred from direct assay
(Tsai et al., 2018, Banerjee and Chinthapalli, 2014)
inferred from high throughput direct assay
(Tan et al., 2009, Alonso et al., 2005)
Terms Based on Predictions or Assertions (2 terms)
CV Term
Evidence
References
part_of MICOS complex
inferred from biological aspect of ancestor with PANTHER:PTN000395816
(GO Reference Genome Project, 2011-)
located_in mitochondrial inner membrane
inferred from sequence or structural similarity with UniProtKB:Q16891
(Gene Ontology Curators, 2002-)
Gene Group (FlyBase)
Protein Family (UniProt)
Belongs to the MICOS complex subunit Mic60 family. (P91928)
Protein Signatures (InterPro)
Summaries
Gene Snapshot
Mitofilin (Mitofilin) encodes a major component of the mitochondrial contact site (MICOS) complex, which is located at the mitochondrial crista junctions. It maintains crista structure and contact sites, and regulates mitochondrial motility. Mitofilin product functions downstream of the kinase encoded by Pink1, to maintain mitochondrial structure and cellular homeostasis. [Date last reviewed: 2018-10-04]
Gene Group (FlyBase)
MICOS COMPLEX - MIC10B VARIANT -
The mitochondrial contact site and cristae organizing system (MICOS) is a large hetero-oligomeric complex inner mitochondrial membrane complex that is involved in the structural maintenance of the inner membrane and cristae formation. (Adapted from FBrf0258588.)
MICOS COMPLEX - MIC10A TESTIS-SPECIFIC VARIANT -
The mitochondrial contact site and cristae organizing system (MICOS) is a large hetero-oligomeric complex inner mitochondrial membrane complex that is involved in the structural maintenance of the inner membrane and cristae formation. (Adapted from FBrf0258588.)
MICOS COMPLEX - MIC10C TESTIS-SPECIFIC VARIANT -
The mitochondrial contact site and cristae organizing system (MICOS) is a large hetero-oligomeric complex inner mitochondrial membrane complex that is involved in the structural maintenance of the inner membrane and cristae formation. (Adapted from FBrf0258588.)
Protein Function (UniProtKB)
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane (By similarity).
(UniProt, P91928)
Gene Model and Products
Number of Transcripts
3
Number of Unique Polypeptides
2

Please see the JBrowse view of Dmel\Mitofilin for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)
Isoform displayed:
Pfam protein domains
InterPro name
classification
start
end
Protein Domains (via SMART)
Isoform displayed:
SMART protein domains
InterPro name
classification
start
end
Structure
Protein 3D structure   (Predicted by AlphaFold)   (AlphaFold entry P91928)

If you don't see a structure in the viewer, refresh your browser.
Model Confidence:
  • Very high (pLDDT > 90)
  • Confident (90 > pLDDT > 70)
  • Low (70 > pLDDT > 50)
  • Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Experimentally Determined Structures
Crossreferences
Comments on Gene Model

Gene model reviewed during 5.47

Sequence Ontology: Class of Gene
nuclear_gene
protein_coding_gene
Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
Mitofilin-RC
FBtr0290271
NM_079720
2979
739
Mitofilin-RD
FBtr0335199
NM_001275889
2718
739
Mitofilin-RE
FBtr0335200
NM_001275890
2511
746
Additional Transcript Data and Comments
Reported size (kB)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name
FlyBase ID
Predicted MW (kDa)
Length (aa)
Theoretical pI
UniProt
RefSeq ID
GenBank
Mitofilin-PC
FBpp0288710
82.0
739
9.42
P91928
NP_524444
AAF55943
Mitofilin-PD
FBpp0307186
82.0
739
9.42
P91928
NP_001262818
AGB96198
Mitofilin-PE
FBpp0307187
82.9
746
9.07
A0A0B4KGN2
NP_001262819
AGB96199
Polypeptides with Identical Sequences

The group(s) of polypeptides indicated below share identical sequence to each other.

739 aa isoforms: Mitofilin-PC, Mitofilin-PD
Additional Polypeptide Data and Comments
Reported size (kDa)
Comments
External Data
Subunit Structure (UniProtKB)

Component of the mitochondrial contact site and cristae organizing system (MICOS) complex (By similarity). Interacts with the mitochondria-shaping protein Opa1 (PubMed:24998521).

(UniProt, P91928)
Crossreferences
InterPro - A database of protein families, domains and functional sites
Linkouts
Sequences Consistent with the Gene Model
Nucleotide / Polypeptide Records
 
UniProt
Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\Mitofilin using the Feature Mapper tool.

External Data
Crossreferences
Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
Linkouts
Expression Data
Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

4.44

Transcript Expression
Polypeptide Expression
mass spectroscopy
Stage
Tissue/Position (including subcellular localization)
Reference
adult stage
adult head
(Aradska et al., 2015)
day 5 of adulthood & male -- day 7 of adulthood & male
spermatozoon
(Dorus et al., 2006)
day 7 of adulthood -- day 49 of adulthood
adult heart
(Cammarato et al., 2011)
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Evidence
References
located_in cytoplasm
inferred from direct assay
(Tsai et al., 2018)
part_of MICOS complex
inferred from direct assay
(Stephan et al., 2024, Benincá et al., 2021)
located_in mitochondrion
inferred from direct assay
(Tsai et al., 2018, Banerjee and Chinthapalli, 2014)
inferred from high throughput direct assay
(Tan et al., 2009, Alonso et al., 2005)
Expression Deduced from Reporters
High-Throughput Expression Data
Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\Mitofilin in JBrowse
RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
Bulk Downloads
RNA-Seq RPKM values for all genes
Reference
See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
Developmental Proteome: Life Cycle
Developmental Proteome: Embryogenesis
External Data and Images
Linkouts
BDGP expression data - Patterns of gene expression in Drosophila embryogenesis
DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
Flygut - An atlas of the Drosophila adult midgut
Images
FlyExpress - Embryonic expression images (BDGP data)
  • Stages(s) 1-3
  • Stages(s) 4-6
  • Stages(s) 7-8
  • Stages(s) 11-12
  • Stages(s) 13-16
FlyBase Wiki
Image Based Resources
Alleles, Insertions, Transgenic Constructs, and Aberrations
Classical and Insertion Alleles ( 1 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 9 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of Mitofilin
Transgenic constructs containing regulatory region of Mitofilin
Aberrations (Deficiencies and Duplications) ( 1 )
Inferred from experimentation ( 1 )
Gene disrupted in
Df(3R)Exel6188
(Ryder, 2004.4.26)
Inferred from location ( 0 )
Variants
Variant Molecular Consequences
Alleles Representing Disease-Implicated Variants
Phenotypes
For more details about a specific phenotype click on the relevant allele symbol.
Lethality
Allele
lethal, with Scer\GAL4insc-Mz1407
lethal - all die before end of P-stage | recessive
lethal - all die before end of pupal stage
partially lethal - majority die, with Scer\GAL4pnr-MD237
viable, with Scer\GAL4Mef2.PU
viable, with Scer\GAL4tin.CΔ4
Other Phenotypes
Allele
abnormal flight, with Scer\GAL4elav.PU
abnormal flight, with Scer\GAL4Mhc.PU
abnormal locomotor behavior, with Scer\GAL4Act88F.1.3
abnormal locomotor behavior | adult stage, with Scer\GAL4Mhc.PU
abnormal locomotor behavior | larval stage
abnormal locomotor behavior | larval stage (with Df(3L)Exel6118)
abnormal neuroanatomy | larval stage, with Scer\GAL4insc-Mz1407
abnormal neuroanatomy | third instar larval stage
abnormal size | third instar larval stage
melanotic mass phenotype | larval stage
some die during pupal stage, with Scer\GAL4pnr-MD237
visible, with Scer\GAL4Mhc.PU
visible, with Scer\GAL4pnr-MD237
Phenotype manifest in
Allele
adult somatic muscle cell of thorax, with Scer\GAL4Mhc.PU
axon | third instar larval stage
axon | third instar larval stage, with Scer\GAL4CCAP.PP
dendrite | third instar larval stage
embryonic/larval hypodermal muscle cell | third instar larval stage
embryonic/larval hypodermal muscle cell | third instar larval stage (with Df(3L)Exel6118)
embryonic/larval neuromuscular junction | third instar larval stage
ganglion mother cell | larval stage, with Scer\GAL4insc-Mz1407
indirect flight muscle cell, with Scer\GAL4Act88F.1.3
larval neuroblast | larval stage, with Scer\GAL4insc-Mz1407
larval segmental nerve | third instar larval stage
larval ventral nerve cord | third instar larval stage
mitochondrial chromosome, with Scer\GAL4Act88F.1.3
mitochondrial crista, with Scer\GAL4Act88F.1.3
mitochondrial crista | third instar larval stage
mitochondrial crista | third instar larval stage (with Df(3L)Exel6118)
mitochondrial crista junction | third instar larval stage
mitochondrial crista junction | third instar larval stage (with Df(3L)Exel6118)
mitochondrial inner boundary membrane, with Scer\GAL4Act88F.1.3
mitochondrial membrane, with Scer\GAL4Act88F.1.3
mitochondrial nucleoid, with Scer\GAL4Act88F.1.3
mitochondrion, with Scer\GAL4Cg.PA
mitochondrion, with Scer\GAL4Tub.PU
mitochondrion | adult stage, with Scer\GAL4Mhc.PU
mitochondrion | increased number, with Scer\GAL4Act88F.1.3
mitochondrion | third instar larval stage
mitochondrion | third instar larval stage (with Df(3L)Exel6118)
neuromuscular junction | third instar larval stage
neuronal cell body | third instar larval stage
NMJ bouton | third instar larval stage
pupa
synapse | third instar larval stage
T-bar | third instar larval stage
trichogen cell, with Scer\GAL4pnr-MD237
vesicle | third instar larval stage
wing, with Scer\GAL4Mhc.PU
Orthologs
Downloads
Download All DIOPT Orthologs
Human Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Source
Compara
Domainoid
eggNOG
Hieranoid
Homologene
Inparanoid
OMA
OrthoDB
OrthoFinder
OrthoInspector
orthoMCL
Panther
Phylome
SonicParanoid
Alignment
Complementation?
Transgene?
Homo sapiens (Human) (1)
Hsap\IMMT
14 of 14
Yes
Yes
6  
Model Organism Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Source
Compara
Domainoid
eggNOG
Hieranoid
Homologene
Inparanoid
OMA
OrthoDB
OrthoFinder
OrthoInspector
orthoMCL
Panther
Phylome
SonicParanoid
Alignment
Complementation?
Transgene?
Rattus norvegicus (Norway rat) (1)
Rnor\Immt
14 of 14
Yes
Yes
Mus musculus (laboratory mouse) (1)
Mmus\Immt
13 of 14
Yes
Yes
Xenopus tropicalis (Western clawed frog) (2)
Xtro\immt
11 of 13
Yes
Yes
Xtro\eya3
1 of 13
No
No
Danio rerio (Zebrafish) (1)
Drer\immt
13 of 14
Yes
Yes
Caenorhabditis elegans (Nematode, roundworm) (4)
Cele\immt-1
14 of 14
Yes
Yes
Cele\immt-2
13 of 14
No
Yes
Cele\F36D4.6
3 of 14
No
Yes
Cele\T06E4.21
1 of 14
No
Yes
Anopheles gambiae (African malaria mosquito) (1)
Agam\AgaP_AGAP002364
11 of 12
Yes
Yes
Arabidopsis thaliana (thale-cress) (1)
Atha\AT4G39690
1 of 13
Yes
Yes
Saccharomyces cerevisiae (Brewer's yeast) (1)
Scer\MIC60
5 of 13
Yes
Yes
Schizosaccharomyces pombe (Fission yeast) (1)
Spom\SPBC3E7.05c
4 of 12
Yes
Yes
Escherichia coli (enterobacterium) (0)
Other Organism Orthologs (via OrthoDB)
Data provided directly from OrthoDB:Mitofilin. Refer to their site for version information.
Paralogs
Downloads
Download All DIOPT Paralogs
Paralogs (via DIOPT v9.1)
Human Disease Associations
FlyBase Human Disease Model Reports
Disease Ontology (DO) Annotations
Models Based on Experimental Evidence ( 0 )
Allele
Disease
Evidence
References
Potential Models Based on Orthology ( 0 )
Human Ortholog
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 4 )
Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)
Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
Homo sapiens (Human)
Gene name
Score
OMIM
OMIM Phenotype
DO term
Complementation?
Transgene?
IMMT; inner membrane mitochondrial protein
14 of 14
600378
       
      Functional Complementation Data
      Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
      Interactions
      Summary of Physical Interactions
      Summary of Genetic Interactions
      esyN Network Diagram
      Show/hide secondary interactors 
      (data from AllianceMine provided by esyN)
      esyN Network Key:
      Suppression
      Enhancement
      Other Interaction Browsers
      View in FlyBase Interactions Browser   View in MIST tool (external link)
      Please look at the allele data for full details of the genetic interactions
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      Mitofilin
      enhanceable
      Adck1
      (Yoon et al., 2019)
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      Adck1
      suppressible
      Mitofilin
      (Yoon et al., 2019)
      Chchd2
      enhanceable
      Mitofilin
      (Baek et al., 2021)
      Chchd2
      suppressible
      Mitofilin
      (Baek et al., 2021)
      Pink1
      suppressible
      Mitofilin
      (Tsai et al., 2018)
      External Data
      Subunit Structure (UniProtKB)
      Component of the mitochondrial contact site and cristae organizing system (MICOS) complex (By similarity). Interacts with the mitochondria-shaping protein Opa1 (PubMed:24998521).
      (UniProt, P91928 )
      Linkouts
      BioGRID - A database of protein and genetic interactions.
      DroID - A comprehensive database of gene and protein interactions.
      MIST (protein-protein) - An integrated Molecular Interaction Database
      Pathways
      Signaling Pathways (FlyBase)
      Metabolic Pathways
      External Data
      Linkouts
      Genomic Location and Detailed Mapping Data
      Chromosome (arm)
      3R
      Recombination map
      3-74
      Cytogenetic map
      94A1-94A1
      Sequence location
      FlyBase Computed Cytological Location
      Cytogenetic map
      Evidence for location
      94A1-94A1
      Limits computationally determined from genome sequence between P{PZ}tsl00617 and P{lacW}howj5B5&P{EP}EP738
      Experimentally Determined Cytological Location
      Cytogenetic map
      Notes
      References
      93F-93F
      (Caggese, 1997.1.30)
      93F9-93F11
      (determined by in situ hybridisation)
      (Caggese et al., 1999)
      Experimentally Determined Recombination Data
      Location

      3-74

      (FlyBase, 2016)

      3-76.0

      (Comeron et al., 2012)
      Left of (cM)
      Right of (cM)
      Notes
      Stocks and Reagents
      Stocks (7)
      Genomic Clones (19)
       

      Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

      cDNA Clones (159)
       

      Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see JBrowse for alignment of the cDNAs and ESTs to the gene model.

      cDNA clones, fully sequenced
      BDGP DGC clones
      Other clones
        Drosophila Genomics Resource Center cDNA clones

        For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

        cDNA Clones, End Sequenced (ESTs)
        BDGP DGC clones
        Other clones
        RNAi and Array Information
        Linkouts
        DRSC - Results frm RNAi screens
        Antibody Information
        Laboratory Generated Antibodies
         

        polyclonal

        (Tsai et al., 2018, Banerjee and Chinthapalli, 2014)
        Commercially Available Antibodies
         
        Cell Line Information
        Publicly Available Cell Lines
         
          Other Stable Cell Lines
           
            Other Comments
            Relationship to Other Genes
            Source for database merge of
            Additional comments
            Nomenclature History
            Source for database identify of

            Source for identity of: Mitofilin CG6455

            (Banerjee and Chinthapalli, 2014)
            Nomenclature comments
            Etymology
            Synonyms and Secondary IDs (14)
            Datasets (0)
            Study focus (0)
            Experimental Role
            Project
            Project Type
            Title
            Study result (0)
            Result
            Result Type
            Title
            External Crossreferences and Linkouts ( 41 )
            Sequence Crossreferences
            NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
            GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.
            GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.
            RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.
            UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.
            UniProt/Swiss-Prot - Manually annotated and reviewed records of protein sequence and functional information
            UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information
            Other crossreferences
            AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.
            BDGP expression data - Patterns of gene expression in Drosophila embryogenesis
            DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
            EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
            FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
            FlyMine - An integrated database for Drosophila genomics
            InterPro - A database of protein families, domains and functional sites
            KEGG Genes - Molecular building blocks of life in the genomic space.
            MARRVEL_MODEL - MARRVEL (model organism gene)
            Linkouts
            BioGRID - A database of protein and genetic interactions.
            Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones
            DroID - A comprehensive database of gene and protein interactions.
            DRSC - Results frm RNAi screens
            Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
            FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
            FlyCyc Genes - Genes from a BioCyc PGDB for Dmel
            Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
            Flygut - An atlas of the Drosophila adult midgut
            iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)
            MIST (protein-protein) - An integrated Molecular Interaction Database
            References (68)