FOXP1
Forkhead box protein P1
Also known as: 12CC4, FOXP1_HUMAN, hFKH1B, HSPC215, QRF1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H334
- Gene
- FOXP1
- Ensembl
- ENSG00000114861
- Chromosome
- 3
- Canonical length
- 677 aa
- Protein class
- Cancer-related genes, Disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
677 residues, UniProt reviewed canonical sequence.
>Q9H334|FOXP1
1 MMQESGTETK SNGSAIQNGS GGSNHLLECG GLREGRSNGE TPAVDIGAAD LAHAQQQQQQ
61 ALQVARQLLL QQQQQQQVSG LKSPKRNDKQ PALQVPVSVA MMTPQVITPQ QMQQILQQQV
121 LSPQQLQVLL QQQQALMLQQ QQLQEFYKKQ QEQLQLQLLQ QQHAGKQPKE QQQVATQQLA
181 FQQQLLQMQQ LQQQHLLSLQ RQGLLTIQPG QPALPLQPLA QGMIPTELQQ LWKEVTSAHT
241 AEETTGNNHS SLDLTTTCVS SSAPSKTSLI MNPHASTNGQ LSVHTPKRES LSHEEHPHSH
301 PLYGHGVCKW PGCEAVCEDF QSFLKHLNSE HALDDRSTAQ CRVQMQVVQQ LELQLAKDKE
361 RLQAMMTHLH VKSTEPKAAP QPLNLVSSVT LSKSASEASP QSLPHTPTTP TAPLTPVTQG
421 PSVITTTSMH TVGPIRRRYS DKYNVPISSA DIAQNQEFYK NAEVRPPFTY ASLIRQAILE
481 SPEKQLTLNE IYNWFTRMFA YFRRNAATWK NAVRHNLSLH KCFVRVENVK GAVWTVDEVE
541 FQKRRPQKIS GNPSLIKNMQ SSHAYCTPLN AALQASMAEN SIPLYTTASM GNPTLGNLAS
601 AIREELNGAM EHTNSNESDS SPGRSPMQAV HPVHVKEEPL DPEEAEGPLS LVTTANHSPD
661 FDHDRDYEDE PVNEDMELocalizationUniProt · AlphaFold · HPA
Whether an antibody against FOXP1 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)
- 0.57
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 34 nTPM
- blood vessel: 26 nTPM
- colon: 25 nTPM
- ovary: 23 nTPM
- salivary gland: 23 nTPM
- thymus: 21 nTPM
Single-cell type
- renal collecting duct intercalated cells: 1,998 nCPM
- distal convoluted tubule cells: 745 nCPM
- renal connecting tubule cells: 719 nCPM
- papillary tip epithelial cells: 625 nCPM
- podocytes: 530 nCPM
- loop of henle epithelial cells: 467 nCPM
Immune cell
- memory B-cell: 32 nTPM
- basophil: 22 nTPM
- naive B-cell: 20 nTPM
- naive CD4 T-cell: 17 nTPM
- neutrophil: 14 nTPM
- T-reg: 12 nTPM
Brain region
- basal ganglia: 110 nTPM
- cerebral cortex: 72 nTPM
- choroid plexus: 57 nTPM
- midbrain: 55 nTPM
- white matter: 53 nTPM
- thalamus: 47 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FOXP1.
Disease | AllUniProt
Conditions FOXP1 is implicated in, by any mechanism.
- Intellectual developmental disorder with language impairment and with or without autistic features (IDDLA) MIM:613670
Disease | GeneticClinVar
201 pathogenic / likely-pathogenic of 1,101 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Inborn genetic diseases
- Intellectual disability
- INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
- FOXP1-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)
- 0.18
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.28
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to tumor necrosis factor
- DNA damage response
- endothelial cell activation
- macrophage activation
- monocyte activation
- negative regulation of androgen receptor signaling pathway
- negative regulation of B cell apoptotic process
- negative regulation of cell growth involved in cardiac muscle cell development
- negative regulation of DNA-templated transcription
- negative regulation of gene expression
- osteoclast development
- osteoclast differentiation
- positive regulation of B cell receptor signaling pathway
- positive regulation of endothelial cell migration
- positive regulation of hydrogen peroxide-mediated programmed cell death
- positive regulation of interleukin-21 production
- positive regulation of smooth muscle cell proliferation
- regulation of chemokine (C-X-C motif) ligand 2 production
- regulation of defense response to bacterium
- regulation of endothelial tube morphogenesis
- regulation of gene expression
- regulation of inflammatory response
- regulation of interleukin-1 beta production
- regulation of interleukin-12 production
- regulation of monocyte differentiation
- regulation of transcription by RNA polymerase II
- regulation of tumor necrosis factor production
- response to lipopolysaccharide
- response to testosterone
- striatum development
- T follicular helper cell differentiation
- regulation of macrophage colony-stimulating factor production
Molecular functions
- core promoter sequence-specific DNA binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- identical protein binding
- nuclear androgen receptor binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FOXP1 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 FOXP1 as an antibody target. Whether an autoantibody or antibody against FOXP1 could matter depends on whether native FOXP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FOXP1 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 FOXP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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