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    MFF mitochondrial fission factor [ Homo sapiens (human) ]

    Gene ID: 56947, updated on 7-Jul-2019

    Summary

    Official Symbol
    MFFprovided by HGNC
    Official Full Name
    mitochondrial fission factorprovided by HGNC
    Primary source
    HGNC:HGNC:24858
    See related
    Ensembl:ENSG00000168958 MIM:614785
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EMPF2; GL004; C2orf33
    Summary
    This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
    Expression
    Broad expression in testis (RPKM 68.3), brain (RPKM 24.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See MFF in Genome Data Viewer
    Location:
    2q36.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (227325233..227357836)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228189867..228222552)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene rhomboid domain containing 1 Neighboring gene collagen type IV alpha 4 chain Neighboring gene collagen type IV alpha 3 chain Neighboring gene uncharacterized LOC654841 Neighboring gene stress induced phosphoprotein 1 pseudogene 2 Neighboring gene transmembrane 4 L six family member 20 Neighboring gene microRNA 5703 Neighboring gene ArfGAP with FG repeats 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC110913, DKFZp666J168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    mitochondrial fission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial fragmentation involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peroxisome fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein targeting to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mitochondrial fission factor

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033153.1 RefSeqGene

      Range
      5001..37686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277061.2NP_001263990.1  mitochondrial fission factor isoform a

      See identical proteins and their annotated locations for NP_001263990.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC097662
      Consensus CDS
      CCDS2465.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      UniProtKB/TrEMBL
      A0A024R491
      Related
      ENSP00000302037.4, ENST00000353339.7
      Conserved Domains (1) summary
      pfam05644
      Location:27342
      Miff; Mitochondrial and peroxisomal fission factor Mff
    2. NM_001277062.2NP_001263991.1  mitochondrial fission factor isoform b

      See identical proteins and their annotated locations for NP_001263991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and an lacks an in-frame exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (b) is shorter and has a shorter N-terminus than isoform a.
      Source sequence(s)
      AC097662
      Consensus CDS
      CCDS63140.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      Related
      ENSP00000304898.9, ENST00000304593.13
      Conserved Domains (1) summary
      pfam05644
      Location:1291
      Miff; Mitochondrial and peroxisomal fission factor Mff
    3. NM_001277063.2NP_001263992.1  mitochondrial fission factor isoform c

      See identical proteins and their annotated locations for NP_001263992.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and an lacks two in-frame exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (c) is shorter and has a shorter N-terminus than isoform a.
      Source sequence(s)
      AC097662
      Consensus CDS
      CCDS63139.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      Related
      ENSP00000338412.7, ENST00000337110.11
      Conserved Domains (1) summary
      pfam05644
      Location:1243
      Miff; Mitochondrial and peroxisomal fission factor Mff
    4. NM_001277064.2NP_001263993.1  mitochondrial fission factor isoform d

      See identical proteins and their annotated locations for NP_001263993.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and lacks two in-frame exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (d) is shorter and has a shorter N-terminus than isoform a.
      Source sequence(s)
      AC097662
      Consensus CDS
      CCDS63141.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      Related
      ENSP00000304134.9, ENST00000349901.11
      Conserved Domains (1) summary
      pfam05644
      Location:1238
      Miff; Mitochondrial and peroxisomal fission factor Mff
    5. NM_001277065.2NP_001263994.1  mitochondrial fission factor isoform e

      See identical proteins and their annotated locations for NP_001263994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region and an lacks three in-frame exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (e) is shorter and has a shorter N-terminus than isoform a. Both variants 6 and 7 encode the same isoform (e).
      Source sequence(s)
      AC097662
      Consensus CDS
      CCDS63142.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      Related
      ENSP00000346498.6, ENST00000354503.10
      Conserved Domains (1) summary
      pfam05644
      Location:1218
      Miff; Mitochondrial and peroxisomal fission factor Mff
    6. NM_001277066.2NP_001263995.1  mitochondrial fission factor isoform e

      See identical proteins and their annotated locations for NP_001263995.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region and an lacks three in-frame exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (e) is shorter and has a shorter N-terminus than isoform a. Both variants 6 and 7 encode the same isoform (e).
      Source sequence(s)
      AC097662
      Consensus CDS
      CCDS63142.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      Related
      ENSP00000386964.1, ENST00000409565.5
      Conserved Domains (1) summary
      pfam05644
      Location:1218
      Miff; Mitochondrial and peroxisomal fission factor Mff
    7. NM_001277067.1NP_001263996.1  mitochondrial fission factor isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region and lacks two in-frame exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (f) is shorter and has a shorter N-terminus than isoform a.
      Source sequence(s)
      AA629429, AF246239, AL833032, BQ653061
      Consensus CDS
      CCDS74662.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      UniProtKB/TrEMBL
      A0A0A0MS29
      Related
      ENSP00000375912.2, ENST00000392059.5
      Conserved Domains (1) summary
      pfam05644
      Location:1221
      Miff; Mitochondrial and peroxisomal fission factor Mff
    8. NM_001277068.1NP_001263997.1  mitochondrial fission factor isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains multiple differences in the UTR and coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (g) is shorter and has a shorter N-terminus than isoform a.
      Source sequence(s)
      AA629429, AF246239, AK026137, AL833032, DA737008
      UniProtKB/Swiss-Prot
      Q9GZY8
      Conserved Domains (1) summary
      pfam05644
      Location:1252
      Miff; Mitochondrial and peroxisomal fission factor Mff
    9. NM_020194.5NP_064579.3  mitochondrial fission factor isoform a

      See identical proteins and their annotated locations for NP_064579.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AA629429, AF246239, AL833032
      Consensus CDS
      CCDS2465.1
      UniProtKB/Swiss-Prot
      Q9GZY8
      UniProtKB/TrEMBL
      A0A024R491
      Conserved Domains (1) summary
      pfam05644
      Location:27342
      Miff; Mitochondrial and peroxisomal fission factor Mff

    RNA

    1. NR_102266.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks six non-consecutive internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC097662

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      227325233..227357836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246681.4XP_005246738.1  mitochondrial fission factor isoform X2

      Conserved Domains (1) summary
      pfam05644
      Location:27322
      Miff; Mitochondrial and peroxisomal fission factor Mff
    2. XM_005246685.4XP_005246742.1  mitochondrial fission factor isoform X7

      Conserved Domains (1) summary
      pfam05644
      Location:27289
      Miff; Mitochondrial and peroxisomal fission factor Mff
    3. XM_005246686.4XP_005246743.1  mitochondrial fission factor isoform X9

      Conserved Domains (1) summary
      pfam05644
      Location:27269
      Miff; Mitochondrial and peroxisomal fission factor Mff
    4. XM_005246682.2XP_005246739.1  mitochondrial fission factor isoform X3

      See identical proteins and their annotated locations for XP_005246739.1

      Conserved Domains (1) summary
      pfam05644
      Location:27317
      Miff; Mitochondrial and peroxisomal fission factor Mff
    5. XM_005246684.2XP_005246741.1  mitochondrial fission factor isoform X5

      Conserved Domains (1) summary
      pfam05644
      Location:27297
      Miff; Mitochondrial and peroxisomal fission factor Mff
    6. XM_005246687.4XP_005246744.1  mitochondrial fission factor isoform X10

      See identical proteins and their annotated locations for XP_005246744.1

      Conserved Domains (1) summary
      pfam05644
      Location:27264
      Miff; Mitochondrial and peroxisomal fission factor Mff
    7. XM_005246688.2XP_005246745.1  mitochondrial fission factor isoform X11

      See identical proteins and their annotated locations for XP_005246745.1

      Conserved Domains (1) summary
      pfam05644
      Location:27244
      Miff; Mitochondrial and peroxisomal fission factor Mff
    8. XM_005246683.2XP_005246740.1  mitochondrial fission factor isoform X4

      See identical proteins and their annotated locations for XP_005246740.1

      Conserved Domains (1) summary
      pfam05644
      Location:1316
      Miff; Mitochondrial and peroxisomal fission factor Mff
    9. XM_017004513.2XP_016860002.1  mitochondrial fission factor isoform X8

    10. XM_006712637.2XP_006712700.1  mitochondrial fission factor isoform X4

      See identical proteins and their annotated locations for XP_006712700.1

      Conserved Domains (1) summary
      pfam05644
      Location:1316
      Miff; Mitochondrial and peroxisomal fission factor Mff
    11. XM_017004515.2XP_016860004.1  mitochondrial fission factor isoform X12

      UniProtKB/Swiss-Prot
      Q9GZY8
      Conserved Domains (1) summary
      pfam05644
      Location:1243
      Miff; Mitochondrial and peroxisomal fission factor Mff
    12. XM_006712638.2XP_006712701.1  mitochondrial fission factor isoform X6

      See identical proteins and their annotated locations for XP_006712701.1

      UniProtKB/Swiss-Prot
      Q9GZY8
      Conserved Domains (1) summary
      pfam05644
      Location:1291
      Miff; Mitochondrial and peroxisomal fission factor Mff
    13. XM_017004514.2XP_016860003.1  mitochondrial fission factor isoform X8

    14. XM_006712639.3XP_006712702.1  mitochondrial fission factor isoform X13

      See identical proteins and their annotated locations for XP_006712702.1

      UniProtKB/Swiss-Prot
      Q9GZY8
      Conserved Domains (1) summary
      pfam05644
      Location:1238
      Miff; Mitochondrial and peroxisomal fission factor Mff
    15. XM_011511501.1XP_011509803.1  mitochondrial fission factor isoform X4

      See identical proteins and their annotated locations for XP_011509803.1

      Conserved Domains (1) summary
      pfam05644
      Location:1316
      Miff; Mitochondrial and peroxisomal fission factor Mff
    16. XM_024453008.1XP_024308776.1  mitochondrial fission factor isoform X6

      Conserved Domains (1) summary
      pfam05644
      Location:1291
      Miff; Mitochondrial and peroxisomal fission factor Mff
    17. XM_017004512.1XP_016860001.1  mitochondrial fission factor isoform X3

      Conserved Domains (1) summary
      pfam05644
      Location:27317
      Miff; Mitochondrial and peroxisomal fission factor Mff
    18. XM_024453009.1XP_024308777.1  mitochondrial fission factor isoform X7

      Conserved Domains (1) summary
      pfam05644
      Location:27289
      Miff; Mitochondrial and peroxisomal fission factor Mff
    19. XM_011511500.1XP_011509802.1  mitochondrial fission factor isoform X1

      See identical proteins and their annotated locations for XP_011509802.1

      UniProtKB/Swiss-Prot
      Q9GZY8
      UniProtKB/TrEMBL
      A0A024R491
      Conserved Domains (1) summary
      pfam05644
      Location:27342
      Miff; Mitochondrial and peroxisomal fission factor Mff
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