Seroatlas · Human Serome Atlas

MFF

Mitochondrial fission factor

Also known as: C2orf33, GL004, MFF_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9GZY8
Gene
MFF
Ensembl
ENSG00000168958
Chromosome
2
Canonical length
342 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Mitochondria,Principal piece
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

342 residues, UniProt reviewed canonical sequence.

>Q9GZY8|MFF
     1  MSKGTSSDTS LGRVSRAAFP SPTAAEMAEI SRIQYEMEYT EGISQRMRVP EKLKVAPPNA
    61  DLEQGFQEGV PNASVIMQVP ERIVVAGNNE DVSFSRPADL DLIQSTPFKP LALKTPPRVL
   121  TLSERPLDFL DLERPPTTPQ NEEIRAVGRL KRERSMSENA VRQNGQLVRN DSLWHRSDSA
   181  PRNKISRFQA PISAPEYTVT PSPQQARVCP PHMLPEDGAN LSSARGILSL IQSSTRRAYQ
   241  QILDVLDENR RPVLRGGSAA ATSNPHHDNV RYGISNIDTT IEGTSDDLTV VDAASLRRQI
   301  IKLNRRLQLL EEENKERAKR EMVMYSITVA FWLLNSWLWF RR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MFF can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.65
Highest tissue expression
189 nTPM

Expression across tissuesHPA

Tissue

  • testis: 189 nTPM
  • skeletal muscle: 95 nTPM
  • spinal cord: 85 nTPM
  • tongue: 81 nTPM
  • retina: 80 nTPM
  • amygdala: 75 nTPM

Single-cell type

  • late spermatids: 3,173 nCPM
  • late primary spermatocytes: 1,011 nCPM
  • early spermatids: 894 nCPM
  • sertoli cells: 303 nCPM
  • oocytes: 286 nCPM
  • müller glia: 269 nCPM

Immune cell

  • eosinophil: 133 nTPM
  • basophil: 119 nTPM
  • T-reg: 97 nTPM
  • memory B-cell: 83 nTPM
  • naive B-cell: 77 nTPM
  • total PBMC: 76 nTPM

Brain region

  • white matter: 96 nTPM
  • spinal cord: 83 nTPM
  • cerebellum: 83 nTPM
  • hypothalamus: 82 nTPM
  • medulla oblongata: 81 nTPM
  • basal ganglia: 78 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MFF.

Disease | AllUniProt

Conditions MFF is implicated in, by any mechanism.

  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2) MIM:617086

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 222 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.57
gnomAD pLI
0.07
gnomAD missense Z
0.44
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MFF in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MFF as an antibody target. Whether an autoantibody or antibody against MFF could matter depends on whether native MFF is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MFF is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MFF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MFF. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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