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MFF mitochondrial fission factor [ Homo sapiens (human) ]

Gene ID: 56947, updated on 1-Aug-2020

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
109.20200522 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 MFF divergent transcript 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 Functions

What'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
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
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
integral component of mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex 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 109.20200522

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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