Seroatlas · Human Serome Atlas

MDFIC

MyoD family inhibitor domain-containing protein

Also known as: HIC, MDFIC_HUMAN, MDFIC1

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

Protein identityUniProt · HPA

UniProt accession: Q9P1T7
Gene: MDFIC
Ensembl: ENSG00000135272
Chromosome: 7
Canonical length: 246 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Golgi apparatus
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

246 residues, UniProt reviewed canonical sequence.

>Q9P1T7|MDFIC
     1  MSGAGEALAP GPVGPQRVAE AGGGQLGSTA QGKCDKDNTE KDITQATNSH FTHGEMQDQS
    61  IWGNPSDGEL IRTQPQRLPQ LQTSAQVPSG EEIGKIKNGH TGLSNGNGIH HGAKHGSADN
   121  RKLSAPVSQK MHRKIQSSLS VNSDISKKSK VNAVFSQKTG SSPEDCCVHC ILACLFCEFL
   181  TLCNIVLGQA SCGICTSEAC CCCCGDEMGD DCNCPCDMDC GIMDACCESS DCLEICMECC
   241  GICFPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MDFIC 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.67
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 37 nTPM
spleen: 29 nTPM
lymph node: 26 nTPM
tonsil: 26 nTPM
skeletal muscle: 25 nTPM
lung: 21 nTPM

Single-cell type

adipocytes: 614 nCPM
choroid plexus epithelial cells: 460 nCPM
pdcs: 405 nCPM
innate lymphoid cells: 335 nCPM
myosatellite cells: 305 nCPM
t-cells: 288 nCPM

Immune cell

plasmacytoid DC: 5.1 nTPM
memory CD4 T-cell: 3.8 nTPM
memory CD8 T-cell: 3.4 nTPM
T-reg: 3.2 nTPM
MAIT T-cell: 2.4 nTPM
naive B-cell: 2.3 nTPM

Brain region

choroid plexus: 51 nTPM
spinal cord: 26 nTPM
medulla oblongata: 24 nTPM
midbrain: 19 nTPM
white matter: 17 nTPM
hypothalamus: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MDFIC.

Disease | AllUniProt

Conditions MDFIC is implicated in, by any mechanism.

Lymphatic malformation 12 (LMPHM12) MIM:620014

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 90 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lymphatic malformation 12
MDFIC-related disorder

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): 0.86
gnomAD pLI: 0.04
gnomAD missense Z: -0.29
DepMap mean gene effect: 0.13
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 MDFIC 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 MDFIC as an antibody target. Whether an autoantibody or antibody against MDFIC could matter depends on whether native MDFIC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MDFIC is annotated as secreted, so native MDFIC circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

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

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