Seroatlas · Human Serome Atlas

FOXC1

Forkhead box protein C1

Also known as: ARA, FKHL7, FOXC1_HUMAN, FREAC3, IGDA, IHG1, IRID1

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

Protein identityUniProt · HPA

UniProt accession
Q12948
Gene
FOXC1
Ensembl
ENSG00000054598
Chromosome
6
Canonical length
553 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

553 residues, UniProt reviewed canonical sequence.

>Q12948|FOXC1
     1  MQARYSVSSP NSLGVVPYLG GEQSYYRAAA AAAGGGYTAM PAPMSVYSHP AHAEQYPGGM
    61  ARAYGPYTPQ PQPKDMVKPP YSYIALITMA IQNAPDKKIT LNGIYQFIMD RFPFYRDNKQ
   121  GWQNSIRHNL SLNECFVKVP RDDKKPGKGS YWTLDPDSYN MFENGSFLRR RRRFKKKDAV
   181  KDKEEKDRLH LKEPPPPGRQ PPPAPPEQAD GNAPGPQPPP VRIQDIKTEN GTCPSPPQPL
   241  SPAAALGSGS AAAVPKIESP DSSSSSLSSG SSPPGSLPSA RPLSLDGADS APPPPAPSAP
   301  PPHHSQGFSV DNIMTSLRGS PQSAAAELSS GLLASAAASS RAGIAPPLAL GAYSPGQSSL
   361  YSSPCSQTSS AGSSGGGGGG AGAAGGAGGA GTYHCNLQAM SLYAAGERGG HLQGAPGGAG
   421  GSAVDDPLPD YSLPPVTSSS SSSLSHGGGG GGGGGGQEAG HHPAAHQGRL TSWYLNQAGG
   481  DLGHLASAAA AAAAAGYPGQ QQNFHSVREM FESQRIGLNN SPVNGNSSCQ MAFPSSQSLY
   541  RTSGAFVYDC SKF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FOXC1 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
146 nTPM

Expression across tissuesHPA

Tissue

  • salivary gland: 146 nTPM
  • blood vessel: 80 nTPM
  • kidney: 18 nTPM
  • heart muscle: 13 nTPM
  • adipose tissue: 12 nTPM
  • skin: 10 nTPM

Single-cell type

  • lacrimal acinar cells: 389 nCPM
  • salivary acinar cells: 329 nCPM
  • salivary basal cells: 221 nCPM
  • salivary duct cells: 205 nCPM
  • podocytes: 202 nCPM
  • salivary myoepithelial cells: 167 nCPM

Immune cell

  • NK-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • choroid plexus: 18 nTPM
  • thalamus: 14 nTPM
  • medulla oblongata: 14 nTPM
  • pons: 14 nTPM
  • basal ganglia: 12 nTPM
  • amygdala: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FOXC1.

Disease | AllUniProt

Conditions FOXC1 is implicated in, by any mechanism.

Disease | GeneticClinVar

156 pathogenic / likely-pathogenic of 780 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)
0.31
gnomAD pLI
0.95
gnomAD missense Z
0.34
DepMap mean gene effect
0.1
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 FOXC1 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 FOXC1 as an antibody target. Whether an autoantibody or antibody against FOXC1 could matter depends on whether native FOXC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FOXC1 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 FOXC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FOXC1. 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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