MFF mitochondrial fission factor [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 2q36.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (227325251..227357836)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (227807906..227840506)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (228189967..228222552)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hypoxia-induced ROS promotes mitochondrial fission and cisplatin chemosensitivity via HIF-1alpha/Mff regulation in head and neck squamous cell carcinoma.
Title: Hypoxia-induced ROS promotes mitochondrial fission and cisplatin chemosensitivity via HIF-1α/Mff regulation in head and neck squamous cell carcinoma.
Mff oligomerization is required for Drp1 activation and synergy with actin filaments during mitochondrial division.
Title: Mff oligomerization is required for Drp1 activation and synergy with actin filaments during mitochondrial division.
Mitochondrial ""dysmorphology"" in variant classification.
Title: Mitochondrial "dysmorphology" in variant classification.
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.
Title: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.
Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation.
Title: Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation.
Mcl-1 inhibits Mff-mediated mitochondrial fragmentation and apoptosis.
Title: Mcl-1 inhibits Mff-mediated mitochondrial fragmentation and apoptosis.
We found that the receptors mitochondrial fission factor (Mff) and mitochondrial elongation factor 1/2 (MIEF1/2) interact with and recruit Drp1(pS637) to mitochondria and that elevated Mff or MIEF levels promote Drp1(pS637) accumulation on mitochondria. We also noted that protein kinase A (PKA), which mediates phosphorylation of Drp1 on Ser-637, is partially present on mitochondria and interacts with both MIEFs and Mff
Title: The phosphorylation status of Ser-637 in dynamin-related protein 1 (Drp1) does not determine Drp1 recruitment to mitochondria.
Study demonstrated that protein isoforms of mitochondrial fission factor (MFF1 and MFF2) were overexpressed in patients with non-small cell lung cancer and formed homo- and heterodimeric complexes with the voltage-dependent anion channel-1 (VDAC1), a key regulator of mitochondrial outer membrane permeability.
Title: MFF Regulation of Mitochondrial Cell Death Is a Therapeutic Target in Cancer.
finding strategies to regulate the balance of the DUSP1-JNK-Mff signaling pathway and mitochondrial homeostasis may be a therapeutic target for treating diabetic nephropathy in clinical practice.
Title: DUSP1 recuses diabetic nephropathy via repressing JNK-Mff-mitochondrial fission pathways.
Iron loading promotes mitochondrial fragmentation in mesenchymal stromal cells from myelodysplastic syndrome patients through activation of the AMPK/MFF/Drp1 pathway.
Title: Iron overload promotes mitochondrial fragmentation in mesenchymal stromal cells from myelodysplastic syndrome patients through activation of the AMPK/MFF/Drp1 pathway.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MedGen: C4310726 OMIM: 617086 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A003P11 (e-PCR)
- UniSTS:41999

WI-12020 (e-PCR)
- UniSTS:5952

WIAF-1526 (e-PCR)
- UniSTS:43136

D2S2842 (e-PCR)
- UniSTS:39314

SHGC-32970 (e-PCR)
- UniSTS:43926

SHGC-132181 (e-PCR)
- UniSTS:170696

SHGC-142182 (e-PCR)
- UniSTS:174026

D2S2842 (e-PCR)
- UniSTS:9678

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 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 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
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
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
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

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Preferred Names: mitochondrial fission factor

NCBI Reference Sequences (RefSeq)

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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

NG_033153.2 RefSeqGene

Range

5002..37584

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001277061.2 → NP_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:27 → 342

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_001277062.2 → NP_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:1 → 291

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_001277063.2 → NP_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:1 → 243

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_001277064.2 → NP_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:1 → 238

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_001277065.2 → NP_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:1 → 218

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_001277066.2 → NP_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:1 → 218

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_001277067.1 → NP_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:1 → 221

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_001277068.1 → NP_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:1 → 252

Miff; Mitochondrial and peroxisomal fission factor Mff
NM_020194.5 → NP_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:27 → 342

Miff; Mitochondrial and peroxisomal fission factor Mff

RNA

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

227325251..227357836

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A9L9PYL0

Conserved Domains (1) summary

pfam05644
Location:27 → 317

Miff; Mitochondrial and peroxisomal fission factor Mff
XM_006712637.3 → XP_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:1 → 316

Miff; Mitochondrial and peroxisomal fission factor Mff
XM_024453009.2 → XP_024308777.1 mitochondrial fission factor isoform X7

UniProtKB/TrEMBL

A0A9L9PXN3

Related

ENSP00000516739.1, ENST00000707110.1

Conserved Domains (1) summary

pfam05644
Location:27 → 289

Miff; Mitochondrial and peroxisomal fission factor Mff
XM_011511500.2 → XP_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:27 → 342

Miff; Mitochondrial and peroxisomal fission factor Mff
XM_047445127.1 → XP_047301083.1 mitochondrial fission factor isoform X2
XM_047445131.1 → XP_047301087.1 mitochondrial fission factor isoform X9
XM_047445128.1 → XP_047301084.1 mitochondrial fission factor isoform X5
XM_047445132.1 → XP_047301088.1 mitochondrial fission factor isoform X10

UniProtKB/TrEMBL

A0A9H3ZVE5

Related

ENSP00000386641.2, ENST00000409616.5
XM_047445133.1 → XP_047301089.1 mitochondrial fission factor isoform X11
XM_047445129.1 → XP_047301085.1 mitochondrial fission factor isoform X6
XM_047445130.1 → XP_047301086.1 mitochondrial fission factor isoform X8

UniProtKB/TrEMBL

H7C433

Related

ENSP00000415313.2, ENST00000456345.2

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

227807906..227840506

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343054.1 → XP_054199029.1 mitochondrial fission factor isoform X3
XM_054343055.1 → XP_054199030.1 mitochondrial fission factor isoform X4

UniProtKB/TrEMBL

A0A9L9PY92
XM_054343058.1 → XP_054199033.1 mitochondrial fission factor isoform X7
XM_054343052.1 → XP_054199027.1 mitochondrial fission factor isoform X1

UniProtKB/Swiss-Prot

Q567U1, Q658R6, Q9BVZ1, Q9GZY8, Q9H690, Q9NRG8
XM_054343053.1 → XP_054199028.1 mitochondrial fission factor isoform X2
XM_054343060.1 → XP_054199035.1 mitochondrial fission factor isoform X9
XM_054343056.1 → XP_054199031.1 mitochondrial fission factor isoform X5
XM_054343061.1 → XP_054199036.1 mitochondrial fission factor isoform X10

UniProtKB/TrEMBL

A0A9H3ZVE5
XM_054343062.1 → XP_054199037.1 mitochondrial fission factor isoform X11
XM_054343057.1 → XP_054199032.1 mitochondrial fission factor isoform X6
XM_054343059.1 → XP_054199034.1 mitochondrial fission factor isoform X8

UniProtKB/TrEMBL

H7C433