CFAP410
Cilia- and flagella-associated protein 410
Also known as: A2, C21orf2, CF410_HUMAN, LRRC76, YF5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43822
- Gene
- CFAP410
- Ensembl
- ENSG00000160226
- Chromosome
- 21
- Canonical length
- 256 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Primary cilium transition zone,Basal body,Cytosol
OverviewNCBI Gene
Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
Canonical amino-acid sequenceUniProt
256 residues, UniProt reviewed canonical sequence.
>O43822|CFAP410
1 MKLTRKMVLT RAKASELHSV RKLNCWGSRL TDISICQEMP SLEVITLSVN SISTLEPVSR
61 CQRLSELYLR RNRIPSLAEL FYLKGLPRLR VLWLAENPCC GTSPHRYRMT VLRTLPRLQK
121 LDNQAVTEEE LSRALSEGEE ITAAPEREGT GHGGPKLCCT LSSLSSAAET GRDPLDSEEE
181 ATSGAQDERG LKPPSRGQFP SLSARDASSS HRGRNVLTAI LLLLRELDAE GLEAVQQTVG
241 SRLQALRGEE VQEHAELocalizationUniProt · AlphaFold · HPA
Whether an antibody against CFAP410 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)
- 0.43
- Highest tissue expression
- 42 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 42 nTPM
- basal ganglia: 42 nTPM
- amygdala: 39 nTPM
- hippocampal formation: 38 nTPM
- pituitary gland: 33 nTPM
- hypothalamus: 32 nTPM
Single-cell type
- late spermatids: 320 nCPM
- late primary spermatocytes: 93 nCPM
- early spermatids: 60 nCPM
- epicardial cells: 43 nCPM
- fallopian tube ciliated cells: 27 nCPM
- epididymal efferent duct ciliated cells: 26 nCPM
Immune cell
- plasmacytoid DC: 31 nTPM
- NK-cell: 17 nTPM
- memory B-cell: 17 nTPM
- memory CD8 T-cell: 13 nTPM
- intermediate monocyte: 13 nTPM
- naive B-cell: 12 nTPM
Brain region
- thalamus: 33 nTPM
- midbrain: 30 nTPM
- medulla oblongata: 28 nTPM
- cerebral cortex: 27 nTPM
- white matter: 26 nTPM
- hypothalamus: 24 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CFAP410.
Disease | AllUniProt
Conditions CFAP410 is implicated in, by any mechanism.
- Retinal dystrophy with or without macular staphyloma (RDMS) MIM:617547
- Spondylometaphyseal dysplasia, axial (SMDAX) MIM:602271
Disease | GeneticClinVar
47 pathogenic / likely-pathogenic of 443 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinal dystrophy with or without macular staphyloma
- Axial spondylometaphyseal dysplasia
- Retinal dystrophy
- Retinitis pigmentosa
- CFAP410-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)
- 1.4
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
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
- cilium assembly
- cytoskeleton organization
- DNA damage response
- regulation of cell shape
- smoothened signaling pathway
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CFAP410 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 CFAP410 as an antibody target. Whether an autoantibody or antibody against CFAP410 could matter depends on whether native CFAP410 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CFAP410 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 CFAP410 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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