U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MFF mitochondrial fission factor [ Homo sapiens (human) ]

Gene ID: 56947, updated on 4-Dec-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227325251..227357836)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (227807926..227840506)
105.20220307 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 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 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

Homology

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitochondrial fragmentation involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mitochondrion morphogenesis 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
PubMed 
involved_in positive regulation of mitochondrial fission IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein targeting to membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
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
 
involved_in regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of peroxisome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    Q9GZY8, Q9NRG8
    UniProtKB/TrEMBL
    A0A024R491, A1MAC2
    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
    ENSP00000304898.10, 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/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, Q9NRG8
    UniProtKB/TrEMBL
    A0A024R491, A1MAC2
    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 110 details...Open this link in a new tab

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

    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

    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

    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
    Q9GZY8, Q9NRG8
    UniProtKB/TrEMBL
    A0A024R491, A1MAC2
    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

  6. XM_047445131.1XP_047301087.1  mitochondrial fission factor isoform X9

  7. XM_047445128.1XP_047301084.1  mitochondrial fission factor isoform X5

  8. XM_047445132.1XP_047301088.1  mitochondrial fission factor isoform X10

    Related
    ENSP00000386641.2, ENST00000409616.5
  9. XM_047445133.1XP_047301089.1  mitochondrial fission factor isoform X11

  10. XM_047445129.1XP_047301085.1  mitochondrial fission factor isoform X6

  11. XM_047445130.1XP_047301086.1  mitochondrial fission factor isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    227807926..227840506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)