FOXD1
Forkhead box protein D1
Also known as: FKHL8, FOXD1_HUMAN, FREAC4
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16676
- Gene
- FOXD1
- Ensembl
- ENSG00000251493
- Chromosome
- 5
- Canonical length
- 465 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]
Canonical amino-acid sequenceUniProt
465 residues, UniProt reviewed canonical sequence.
>Q16676|FOXD1
1 MTLSTEMSDA SGLAEETDID VVGEGEDEED EEEEDDDEGG GGGPRLAVPA QRRRRRRSYA
61 GEDELEDLEE EEDDDDILLA PPAGGSPAPP GPAPAAGAGA GGGGGGGGAG GGGSAGSGAK
121 NPLVKPPYSY IALITMAILQ SPKKRLTLSE ICEFISGRFP YYREKFPAWQ NSIRHNLSLN
181 DCFVKIPREP GNPGKGNYWT LDPESADMFD NGSFLRRRKR FKRQPLLPPN AAAAESLLLR
241 GAGAAGGAGD PAAAAALFPP APPPPPHAYG YGPYGCGYGL QLPPYAPPSA LFAAAAAAAA
301 AAAFHPHSPP PPPPPHGAAA ELARTAFGYR PHPLGAALPG PLPASAAKAG GPGASALARS
361 PFSIESIIGG SLGPAAAAAA AAQAAAAAQA SPSPSPVAAP PAPGSSGGGC AAQAAVGPAA
421 ALTRSLVAAA AAAASSVSSS AALGTLHQGT ALSSVENFTA RISNCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXD1 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
- 2.8 nTPM
Expression across tissuesHPA
Tissue
- testis: 2.8 nTPM
- blood vessel: 2.7 nTPM
- hypothalamus: 2.4 nTPM
- tongue: 1.9 nTPM
- kidney: 1.8 nTPM
- adrenal gland: 1.7 nTPM
Single-cell type
- müller glia: 24 nCPM
- retinal pigment epithelial cells: 21 nCPM
- pericytes: 13 nCPM
- podocytes: 13 nCPM
- fibroblasts: 12 nCPM
- respiratory deuterosomal cells: 11 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
- hypothalamus: 9 nTPM
- choroid plexus: 4.9 nTPM
- basal ganglia: 4 nTPM
- thalamus: 3.3 nTPM
- cerebral cortex: 2.2 nTPM
- midbrain: 2 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)
- 0.78
- gnomAD pLI
- 0.69
- gnomAD missense Z
- 0.58
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- axon guidance
- canonical Wnt signaling pathway
- cell differentiation
- luteinizing hormone secretion
- metanephric nephron development
- negative regulation of DNA-templated transcription
- positive regulation of BMP signaling pathway
- positive regulation of gene expression
- positive regulation of kidney development
- regulation of transcription by RNA polymerase II
- dichotomous subdivision of terminal units involved in ureteric bud branching
- metanephric capsule development
- metanephric capsule specification
- nephrogenic mesenchyme development
Molecular functions
- DNA binding
- DNA binding, bending
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FOXD1 as an antibody target. Whether an autoantibody or antibody against FOXD1 could matter depends on whether native FOXD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXD1 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 FOXD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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