Seroatlas · Human Serome Atlas

MDFI

MyoD family inhibitor

Also known as: I-mfa, MDFI_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q99750
Gene: MDFI
Ensembl: ENSG00000112559
Chromosome: 6
Canonical length: 246 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

246 residues, UniProt reviewed canonical sequence.

>Q99750|MDFI
     1  MYQVSGQRPS GCDAPYGAPS AAPGPAQTLS LLPGLEVVTG STHPAEAAPE EGSLEEAATP
    61  MPQGNGPGIP QGLDSTDLDV PTEAVTCQPQ GNPLGCTPLL PNDSGHPSEL GGTRRAGNGA
   121  LGGPKAHRKL QTHPSLASQG SKKSKSSSKS TTSQIPLQAQ EDCCVHCILS CLFCEFLTLC
   181  NIVLDCATCG SCSSEDSCLC CCCCGSGECA DCDLPCDLDC GILDACCESA DCLEICMECC
   241  GLCFSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MDFI 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.66
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

esophagus: 35 nTPM
adipose tissue: 31 nTPM
vagina: 22 nTPM
breast: 21 nTPM
cervix: 19 nTPM
salivary gland: 18 nTPM

Single-cell type

cytotrophoblasts: 272 nCPM
esophageal apical cells: 204 nCPM
migrating cytotrophoblasts: 185 nCPM
extravillous trophoblasts: 146 nCPM
syncytiotrophoblasts: 131 nCPM
esophageal suprabasal cells: 57 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

medulla oblongata: 15 nTPM
pons: 11 nTPM
midbrain: 9.5 nTPM
hypothalamus: 6.7 nTPM
choroid plexus: 6.2 nTPM
basal ganglia: 5.8 nTPM

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): 0.73
gnomAD pLI: 0.33
gnomAD missense Z: 0.12
DepMap mean gene effect: 0.09
DepMap dependency class: none

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

MDFI 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 MDFI as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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