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    MFF mitochondrial fission factor [ Homo sapiens (human) ]

    Gene ID: 56947, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:24858
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MFF in Genome Data Viewer
    Location:
    2q36.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227325251..227357836)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (227807906..227840506)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228189967..228222552)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene rhomboid domain containing 1 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17196 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:227859794-227860993 Neighboring gene collagen type IV alpha 4 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:227929821-227930408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:228028248-228029149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:228050272-228050810 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:228055439-228056638 Neighboring gene collagen type IV alpha 3 chain Neighboring gene MFF divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:228185522-228186050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12398 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:228235290-228236489 Neighboring gene MPRA-validated peak4069 silencer Neighboring gene stress induced phosphoprotein 1 pseudogene 2 Neighboring gene transmembrane 4 L six family member 20 Neighboring gene small cysteine and glycine repeat containing 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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC110913, DKFZp666J168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial fission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peroxisome fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein targeting to mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein targeting to mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mitochondrial fission factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033153.2 RefSeqGene

      Range
      5002..37584
      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
      Q567U1, Q658R6, Q9BVZ1, Q9GZY8, Q9H690, Q9NRG8
      UniProtKB/TrEMBL
      A0A9L9PXN3
      Related
      ENSP00000302037.4, ENST00000353339.8
      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/TrEMBL
      A0A9L9PYL0
      Related
      ENSP00000304898.10, ENST00000304593.14
      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/TrEMBL
      A0A9L9PXN3
      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/TrEMBL
      A0A0A0MS29
      Related
      ENSP00000375912.2, ENST00000392059.6
      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/TrEMBL
      A0A9L9PYL0
      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
      Q567U1, Q658R6, Q9BVZ1, Q9GZY8, Q9H690, Q9NRG8
      UniProtKB/TrEMBL
      A0A9L9PXN3
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      227325251..227357836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004512.2XP_016860001.1  mitochondrial fission factor isoform X3

      UniProtKB/TrEMBL
      A0A9L9PYL0
      Conserved Domains (1) summary
      pfam05644
      Location:27317
      Miff; Mitochondrial and peroxisomal fission factor Mff
    2. XM_006712637.3XP_006712700.1  mitochondrial fission factor isoform X4

      See identical proteins and their annotated locations for XP_006712700.1

      UniProtKB/TrEMBL
      A0A9L9PY92, A0A9L9PYL0
      Related
      ENSP00000516738.1, ENST00000707109.1
      Conserved Domains (1) summary
      pfam05644
      Location:1316
      Miff; Mitochondrial and peroxisomal fission factor Mff
    3. XM_024453009.2XP_024308777.1  mitochondrial fission factor isoform X7

      UniProtKB/TrEMBL
      A0A9L9PXN3
      Related
      ENSP00000516739.1, ENST00000707110.1
      Conserved Domains (1) summary
      pfam05644
      Location:27289
      Miff; Mitochondrial and peroxisomal fission factor Mff
    4. XM_011511500.2XP_011509802.1  mitochondrial fission factor isoform X1

      See identical proteins and their annotated locations for XP_011509802.1

      UniProtKB/Swiss-Prot
      Q567U1, Q658R6, Q9BVZ1, Q9GZY8, Q9H690, Q9NRG8
      UniProtKB/TrEMBL
      A0A9L9PXN3
      Conserved Domains (1) summary
      pfam05644
      Location:27342
      Miff; Mitochondrial and peroxisomal fission factor Mff
    5. XM_047445127.1XP_047301083.1  mitochondrial fission factor isoform X2

      UniProtKB/TrEMBL
      A0A9L9PXN3
    6. XM_047445131.1XP_047301087.1  mitochondrial fission factor isoform X9

      UniProtKB/TrEMBL
      A0A9L9PXN3
    7. XM_047445128.1XP_047301084.1  mitochondrial fission factor isoform X5

      UniProtKB/TrEMBL
      A0A9L9PYL0
    8. XM_047445132.1XP_047301088.1  mitochondrial fission factor isoform X10

      UniProtKB/TrEMBL
      A0A9H3ZVE5, A0A9L9PXN3
      Related
      ENSP00000386641.2, ENST00000409616.5
    9. XM_047445133.1XP_047301089.1  mitochondrial fission factor isoform X11

      UniProtKB/TrEMBL
      A0A9L9PXN3
    10. XM_047445129.1XP_047301085.1  mitochondrial fission factor isoform X6

      UniProtKB/TrEMBL
      A0A9L9PYL0
    11. XM_047445130.1XP_047301086.1  mitochondrial fission factor isoform X8

      UniProtKB/TrEMBL
      A0A9L9PYL0, H7C433
      Related
      ENSP00000415313.2, ENST00000456345.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      227807906..227840506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343054.1XP_054199029.1  mitochondrial fission factor isoform X3

      UniProtKB/TrEMBL
      A0A9L9PYL0
    2. XM_054343055.1XP_054199030.1  mitochondrial fission factor isoform X4

      UniProtKB/TrEMBL
      A0A9L9PY92, A0A9L9PYL0
    3. XM_054343058.1XP_054199033.1  mitochondrial fission factor isoform X7

      UniProtKB/TrEMBL
      A0A9L9PXN3
    4. XM_054343052.1XP_054199027.1  mitochondrial fission factor isoform X1

      UniProtKB/Swiss-Prot
      Q567U1, Q658R6, Q9BVZ1, Q9GZY8, Q9H690, Q9NRG8
      UniProtKB/TrEMBL
      A0A9L9PXN3
    5. XM_054343053.1XP_054199028.1  mitochondrial fission factor isoform X2

      UniProtKB/TrEMBL
      A0A9L9PXN3
    6. XM_054343060.1XP_054199035.1  mitochondrial fission factor isoform X9

      UniProtKB/TrEMBL
      A0A9L9PXN3
    7. XM_054343056.1XP_054199031.1  mitochondrial fission factor isoform X5

      UniProtKB/TrEMBL
      A0A9L9PYL0
    8. XM_054343061.1XP_054199036.1  mitochondrial fission factor isoform X10

      UniProtKB/TrEMBL
      A0A9H3ZVE5, A0A9L9PXN3
    9. XM_054343062.1XP_054199037.1  mitochondrial fission factor isoform X11

      UniProtKB/TrEMBL
      A0A9L9PXN3
    10. XM_054343057.1XP_054199032.1  mitochondrial fission factor isoform X6

      UniProtKB/TrEMBL
      A0A9L9PYL0
    11. XM_054343059.1XP_054199034.1  mitochondrial fission factor isoform X8

      UniProtKB/TrEMBL
      A0A9L9PYL0, H7C433