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Protein

Mitochondrial fission factor

Gene

MFF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles.2 Publications

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • mitochondrial fission Source: UniProtKB
  • mitochondrial fragmentation involved in apoptotic process Source: UniProtKB
  • mitochondrial fusion Source: UniProtKB
  • mitochondrion morphogenesis Source: MGI
  • peroxisome fission Source: UniProtKB
  • positive regulation of mitochondrial fission Source: UniProtKB
  • positive regulation of protein targeting to membrane Source: UniProtKB
  • positive regulation of release of cytochrome c from mitochondria Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • protein targeting to mitochondrion Source: UniProtKB
  • regulation of mitochondrion organization Source: UniProtKB
  • regulation of peroxisome organization Source: UniProtKB
  • release of cytochrome c from mitochondria Source: UniProtKB

Enzyme and pathway databases

SIGNORiQ9GZY8

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial fission factor
Gene namesi
Name:MFF
Synonyms:C2orf33
ORF Names:AD030, AD033, GL004
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000168958.19
HGNCiHGNC:24858 MFF
MIMi614785 gene
neXtProtiNX_Q9GZY8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 322CytoplasmicSequence analysisAdd BLAST322
Transmembranei323 – 340Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST18
Topological domaini341 – 342Mitochondrial intermembraneSequence analysis2

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Membrane, Mitochondrion, Mitochondrion outer membrane, Peroxisome, Synapse

Pathology & Biotechi

Involvement in diseasei

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy.
See also OMIM:617086

Organism-specific databases

DisGeNETi56947
MalaCardsiMFF
MIMi617086 phenotype
OpenTargetsiENSG00000168958
PharmGKBiPA162395839

Polymorphism and mutation databases

BioMutaiMFF
DMDMi74725008

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002891841 – 342Mitochondrial fission factorAdd BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei115PhosphothreonineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei157PhosphoserineCombined sources1
Modified residuei172PhosphoserineBy similarity1
Modified residuei200PhosphothreonineCombined sources1
Modified residuei202PhosphoserineCombined sources1
Modified residuei229PhosphoserineCombined sources1
Modified residuei233PhosphoserineCombined sources1
Modified residuei295PhosphoserineBy similarity1
Isoform 2 (identifier: Q9GZY8-2)
Modified residuei146PhosphoserineCombined sources1
Modified residuei149PhosphothreonineCombined sources1
Modified residuei151PhosphoserineCombined sources1
Isoform 5 (identifier: Q9GZY8-5)
Modified residuei146PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9GZY8
MaxQBiQ9GZY8
PaxDbiQ9GZY8
PeptideAtlasiQ9GZY8
PRIDEiQ9GZY8
ProteomicsDBi80176
80177 [Q9GZY8-2]
80178 [Q9GZY8-3]
80179 [Q9GZY8-4]
80180 [Q9GZY8-5]
TopDownProteomicsiQ9GZY8-2 [Q9GZY8-2]

PTM databases

iPTMnetiQ9GZY8
PhosphoSitePlusiQ9GZY8

Expressioni

Tissue specificityi

Highly expressed in heart, kidney, liver, brain, muscle, and stomach.1 Publication

Gene expression databases

BgeeiENSG00000168958
CleanExiHS_MFF
ExpressionAtlasiQ9GZY8 baseline and differential
GenevisibleiQ9GZY8 HS

Organism-specific databases

HPAiHPA010968
HPA074625

Interactioni

Subunit structurei

Homodimer. Interacts with DNM1L (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi121271, 13 interactors
IntActiQ9GZY8, 101 interactors
MINTiQ9GZY8
STRINGi9606.ENSP00000302037

Structurei

3D structure databases

ProteinModelPortaliQ9GZY8
SMRiQ9GZY8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili291 – 322Sequence analysisAdd BLAST32

Sequence similaritiesi

Belongs to the Tango11 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410III7 Eukaryota
ENOG410XSQR LUCA
GeneTreeiENSGT00390000009776
HOGENOMiHOG000285976
HOVERGENiHBG105704
InParanoidiQ9GZY8
KOiK22076
OMAiRNDSMWH
OrthoDBiEOG091G0DK2
PhylomeDBiQ9GZY8
TreeFamiTF325506

Family and domain databases

InterProiView protein in InterPro
IPR008518 Miff/Tango-11
PANTHERiPTHR16501 PTHR16501, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9GZY8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSKGTSSDTS LGRVSRAAFP SPTAAEMAEI SRIQYEMEYT EGISQRMRVP
60 70 80 90 100
EKLKVAPPNA DLEQGFQEGV PNASVIMQVP ERIVVAGNNE DVSFSRPADL
110 120 130 140 150
DLIQSTPFKP LALKTPPRVL TLSERPLDFL DLERPPTTPQ NEEIRAVGRL
160 170 180 190 200
KRERSMSENA VRQNGQLVRN DSLWHRSDSA PRNKISRFQA PISAPEYTVT
210 220 230 240 250
PSPQQARVCP PHMLPEDGAN LSSARGILSL IQSSTRRAYQ QILDVLDENR
260 270 280 290 300
RPVLRGGSAA ATSNPHHDNV RYGISNIDTT IEGTSDDLTV VDAASLRRQI
310 320 330 340
IKLNRRLQLL EEENKERAKR EMVMYSITVA FWLLNSWLWF RR
Length:342
Mass (Da):38,465
Last modified:March 1, 2001 - v1
Checksum:i1DBFBBE17DB122A0
GO
Isoform 2 (identifier: Q9GZY8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.
     174-198: Missing.

Show »
Length:291
Mass (Da):32,973
Checksum:i1CEA83C57D1E6FE6
GO
Isoform 3 (identifier: Q9GZY8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.
     199-271: Missing.

Show »
Length:243
Mass (Da):27,964
Checksum:i2D2B8A36FEA1C038
GO
Isoform 4 (identifier: Q9GZY8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.
     174-271: Missing.

Show »
Length:218
Mass (Da):25,067
Checksum:i07B22DF970A4995F
GO
Isoform 5 (identifier: Q9GZY8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.
     174-251: Missing.

Show »
Length:238
Mass (Da):27,105
Checksum:i3F647B952DAE2A05
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti212H → Y in CAH56328 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0539157S → C. Corresponds to variant dbSNP:rs3211097EnsemblClinVar.1
Natural variantiVAR_0539167S → I. Corresponds to variant dbSNP:rs3211098EnsemblClinVar.1
Natural variantiVAR_03602829E → K in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0259541 – 26Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 3 PublicationsAdd BLAST26
Alternative sequenceiVSP_025955174 – 271Missing in isoform 4. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_025956174 – 251Missing in isoform 5. 1 PublicationAdd BLAST78
Alternative sequenceiVSP_025957174 – 198Missing in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_025958199 – 271Missing in isoform 3. 1 PublicationAdd BLAST73

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026137 mRNA Translation: BAB15373.1
AF246239 mRNA Translation: AAG44486.1
AF226049 mRNA Translation: AAF86949.1
AF258660 mRNA Translation: AAG44658.1
AC097662 Genomic DNA Translation: AAY24252.1
BC000797 mRNA Translation: AAH00797.1
BC093024 mRNA Translation: AAH93024.1
AL833032 mRNA Translation: CAH56328.1
CCDSiCCDS2465.1 [Q9GZY8-1]
CCDS63139.1 [Q9GZY8-3]
CCDS63140.1 [Q9GZY8-2]
CCDS63141.1 [Q9GZY8-5]
CCDS63142.1 [Q9GZY8-4]
RefSeqiNP_001263990.1, NM_001277061.1 [Q9GZY8-1]
NP_001263991.1, NM_001277062.1 [Q9GZY8-2]
NP_001263992.1, NM_001277063.1 [Q9GZY8-3]
NP_001263993.1, NM_001277064.1 [Q9GZY8-5]
NP_001263994.1, NM_001277065.1 [Q9GZY8-4]
NP_001263995.1, NM_001277066.1 [Q9GZY8-4]
NP_001263996.1, NM_001277067.1
NP_001263997.1, NM_001277068.1
NP_064579.3, NM_020194.5 [Q9GZY8-1]
XP_006712701.1, XM_006712638.1 [Q9GZY8-2]
XP_006712702.1, XM_006712639.2 [Q9GZY8-5]
XP_011509802.1, XM_011511500.1 [Q9GZY8-1]
XP_016860004.1, XM_017004515.1 [Q9GZY8-3]
UniGeneiHs.471528

Genome annotation databases

EnsembliENST00000304593; ENSP00000304898; ENSG00000168958 [Q9GZY8-2]
ENST00000337110; ENSP00000338412; ENSG00000168958 [Q9GZY8-3]
ENST00000349901; ENSP00000304134; ENSG00000168958 [Q9GZY8-5]
ENST00000353339; ENSP00000302037; ENSG00000168958 [Q9GZY8-1]
ENST00000354503; ENSP00000346498; ENSG00000168958 [Q9GZY8-4]
ENST00000409565; ENSP00000386964; ENSG00000168958 [Q9GZY8-4]
ENST00000409616; ENSP00000386641; ENSG00000168958 [Q9GZY8-5]
GeneIDi56947
KEGGihsa:56947
UCSCiuc002vos.5 human [Q9GZY8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMFF_HUMAN
AccessioniPrimary (citable) accession number: Q9GZY8
Secondary accession number(s): Q567U1
, Q658R6, Q9BVZ1, Q9H690, Q9NRG8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2001
Last modified: July 18, 2018
This is version 117 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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