UniProtKB - Q9GZY8 (MFF_HUMAN)
Protein
Mitochondrial fission factor
Gene
MFF
Organism
Homo sapiens (Human)
Status
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
SIGNORi | Q9GZY8 |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial fission factor |
Gene namesi | Name:MFF Synonyms:C2orf33 ORF Names:AD030, AD033, GL004 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24858 MFF |
MIMi | 614785 gene |
neXtProti | NX_Q9GZY8 |
Subcellular locationi
Peroxisome
Mitochondrion
Other locations
- synaptic vesicle By similarity
Mitochondrion
- integral component of mitochondrial membrane Source: UniProtKB
- mitochondrial outer membrane Source: UniProtKB
- mitochondrion Source: HPA
Peroxisome
- peroxisome Source: UniProtKB
Other locations
- cell junction Source: UniProtKB-KW
- synaptic vesicle Source: UniProtKB-SubCell
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 322 | CytoplasmicSequence analysisAdd BLAST | 322 | |
Transmembranei | 323 – 340 | Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST | 18 | |
Topological domaini | 341 – 342 | Mitochondrial intermembraneSequence analysis | 2 |
Keywords - Cellular componenti
Cell junction, Cytoplasmic vesicle, Membrane, Mitochondrion, Mitochondrion outer membrane, Peroxisome, SynapsePathology & 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 56947 |
MalaCardsi | MFF |
MIMi | 617086 phenotype |
OpenTargetsi | ENSG00000168958 |
Orphaneti | 485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
PharmGKBi | PA162395839 |
Miscellaneous databases
Pharosi | Q9GZY8 |
Polymorphism and mutation databases
BioMutai | MFF |
DMDMi | 74725008 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000289184 | 1 – 342 | Mitochondrial fission factorAdd BLAST | 342 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 115 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 155 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 157 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 172 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 200 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 202 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 229 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 233 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 295 | PhosphoserineBy similarity | 1 | ||
Isoform 2 (identifier: Q9GZY8-2) | |||||
Modified residuei | 146 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 149 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 151 | PhosphoserineCombined sources | 1 | ||
Isoform 5 (identifier: Q9GZY8-5) | |||||
Modified residuei | 146 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9GZY8 |
jPOSTi | Q9GZY8 |
MassIVEi | Q9GZY8 |
MaxQBi | Q9GZY8 |
PaxDbi | Q9GZY8 |
PeptideAtlasi | Q9GZY8 |
PRIDEi | Q9GZY8 |
ProteomicsDBi | 80176 [Q9GZY8-1] 80177 [Q9GZY8-2] 80178 [Q9GZY8-3] 80179 [Q9GZY8-4] 80180 [Q9GZY8-5] |
TopDownProteomicsi | Q9GZY8-2 [Q9GZY8-2] |
PTM databases
iPTMneti | Q9GZY8 |
PhosphoSitePlusi | Q9GZY8 |
Expressioni
Tissue specificityi
Highly expressed in heart, kidney, liver, brain, muscle, and stomach.1 Publication
Gene expression databases
Bgeei | ENSG00000168958 Expressed in 229 organ(s), highest expression level in sperm |
ExpressionAtlasi | Q9GZY8 baseline and differential |
Genevisiblei | Q9GZY8 HS |
Organism-specific databases
HPAi | HPA010968 HPA074625 |
Interactioni
Subunit structurei
Homodimer.
Interacts with DNM1L (By similarity).
By similarityBinary interactionsi
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGridi | 121271, 21 interactors |
IntActi | Q9GZY8, 108 interactors |
MINTi | Q9GZY8 |
STRINGi | 9606.ENSP00000302037 |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 291 – 322 | Sequence analysisAdd BLAST | 32 |
Sequence similaritiesi
Belongs to the Tango11 family.Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410III7 Eukaryota ENOG410XSQR LUCA |
GeneTreei | ENSGT00390000009776 |
HOGENOMi | HOG000285976 |
InParanoidi | Q9GZY8 |
KOi | K22076 |
OMAi | TDSMWHR |
OrthoDBi | 1383657at2759 |
PhylomeDBi | Q9GZY8 |
TreeFami | TF325506 |
Family and domain databases
InterProi | View protein in InterPro IPR039433 Mff-like_dom IPR008518 Mff/Tango-11 |
PANTHERi | PTHR16501 PTHR16501, 1 hit |
Pfami | View protein in Pfam PF05644 Miff, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9GZY8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MS29 | A0A0A0MS29_HUMAN | Mitochondrial fission factor | MFF | 221 | Annotation score: | ||
C9JHF5 | C9JHF5_HUMAN | Mitochondrial fission factor | MFF | 138 | Annotation score: | ||
E9PPW6 | E9PPW6_HUMAN | Mitochondrial fission factor | MFF | 89 | Annotation score: | ||
H7C433 | H7C433_HUMAN | Mitochondrial fission factor | MFF | 154 | Annotation score: | ||
C9JAF1 | C9JAF1_HUMAN | Mitochondrial fission factor | MFF | 71 | Annotation score: | ||
E9PK16 | E9PK16_HUMAN | Mitochondrial fission factor | MFF | 59 | Annotation score: | ||
E9PKS0 | E9PKS0_HUMAN | Mitochondrial fission factor | MFF | 71 | Annotation score: | ||
E9PQX8 | E9PQX8_HUMAN | Mitochondrial fission factor | MFF | 69 | Annotation score: | ||
C9J846 | C9J846_HUMAN | Mitochondrial fission factor | MFF | 34 | Annotation score: | ||
C9JI76 | C9JI76_HUMAN | Mitochondrial fission factor | MFF | 32 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 212 | H → Y in CAH56328 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053915 | 7 | S → C. Corresponds to variant dbSNP:rs3211097EnsemblClinVar. | 1 | |
Natural variantiVAR_053916 | 7 | S → I. Corresponds to variant dbSNP:rs3211098EnsemblClinVar. | 1 | |
Natural variantiVAR_036028 | 29 | E → K in a colorectal cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025954 | 1 – 26 | Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 3 PublicationsAdd BLAST | 26 | |
Alternative sequenceiVSP_025955 | 174 – 271 | Missing in isoform 4. 1 PublicationAdd BLAST | 98 | |
Alternative sequenceiVSP_025956 | 174 – 251 | Missing in isoform 5. 1 PublicationAdd BLAST | 78 | |
Alternative sequenceiVSP_025957 | 174 – 198 | Missing in isoform 2. 1 PublicationAdd BLAST | 25 | |
Alternative sequenceiVSP_025958 | 199 – 271 | Missing in isoform 3. 1 PublicationAdd BLAST | 73 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
SMRi | Q9GZY8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 121271, 21 interactors |
IntActi | Q9GZY8, 108 interactors |
MINTi | Q9GZY8 |
STRINGi | 9606.ENSP00000302037 |
PTM databases
iPTMneti | Q9GZY8 |
PhosphoSitePlusi | Q9GZY8 |
Polymorphism and mutation databases
BioMutai | MFF |
DMDMi | 74725008 |
Proteomic databases
EPDi | Q9GZY8 |
jPOSTi | Q9GZY8 |
MassIVEi | Q9GZY8 |
MaxQBi | Q9GZY8 |
PaxDbi | Q9GZY8 |
PeptideAtlasi | Q9GZY8 |
PRIDEi | Q9GZY8 |
ProteomicsDBi | 80176 [Q9GZY8-1] 80177 [Q9GZY8-2] 80178 [Q9GZY8-3] 80179 [Q9GZY8-4] 80180 [Q9GZY8-5] |
TopDownProteomicsi | Q9GZY8-2 [Q9GZY8-2] |
Protocols and materials databases
DNASUi | 56947 |
Genome annotation databases
Organism-specific databases
CTDi | 56947 |
DisGeNETi | 56947 |
GeneCardsi | MFF |
HGNCi | HGNC:24858 MFF |
HPAi | HPA010968 HPA074625 |
MalaCardsi | MFF |
MIMi | 614785 gene 617086 phenotype |
neXtProti | NX_Q9GZY8 |
OpenTargetsi | ENSG00000168958 |
Orphaneti | 485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
PharmGKBi | PA162395839 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410III7 Eukaryota ENOG410XSQR LUCA |
GeneTreei | ENSGT00390000009776 |
HOGENOMi | HOG000285976 |
InParanoidi | Q9GZY8 |
KOi | K22076 |
OMAi | TDSMWHR |
OrthoDBi | 1383657at2759 |
PhylomeDBi | Q9GZY8 |
TreeFami | TF325506 |
Enzyme and pathway databases
SIGNORi | Q9GZY8 |
Miscellaneous databases
ChiTaRSi | MFF human |
GeneWikii | Mitochondrial_fission_factor |
GenomeRNAii | 56947 |
Pharosi | Q9GZY8 |
PROi | PR:Q9GZY8 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168958 Expressed in 229 organ(s), highest expression level in sperm |
ExpressionAtlasi | Q9GZY8 baseline and differential |
Genevisiblei | Q9GZY8 HS |
Family and domain databases
InterProi | View protein in InterPro IPR039433 Mff-like_dom IPR008518 Mff/Tango-11 |
PANTHERi | PTHR16501 PTHR16501, 1 hit |
Pfami | View protein in Pfam PF05644 Miff, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MFF_HUMAN | |
Accessioni | Q9GZY8Primary (citable) accession number: Q9GZY8 Secondary accession number(s): Q567U1 Q9NRG8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 29, 2007 |
Last sequence update: | March 1, 2001 | |
Last modified: | October 16, 2019 | |
This is version 127 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot