IFT43
Intraflagellar transport protein 43 homolog
Also known as: C14orf179, FLJ32173, IFT43_HUMAN, MGC16028
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96FT9
- Gene
- IFT43
- Ensembl
- ENSG00000119650
- Chromosome
- 14
- Canonical length
- 208 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Microtubules,Cytokinetic bridge,Mitotic spindle,Primary cilium,Centriolar satellite,Basal body,Perinuclear theca,Principal piece,End piece
OverviewNCBI Gene
This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Canonical amino-acid sequenceUniProt
208 residues, UniProt reviewed canonical sequence.
>Q96FT9|IFT43
1 MEDLLDLDEE LRYSLATSRA KMGRRAQQES AQAENHLNGK NSSLTLTGET SSAKLPRCRQ
61 GGWAGDSVKA SKFRRKASEE IEDFRLRPQS LNGSDYGGDI PIIPDLEEVQ EEDFVLQVAA
121 PPSIQIKRVM TYRDLDNDLM KYSAIQTLDG EIDLKLLTKV LAPEHEVRED DVGWDWDHLF
181 TEVSSEVLTE WDPLQTEKED PAGQARHTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IFT43 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
- 84 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 84 nTPM
- fallopian tube: 61 nTPM
- epididymis: 47 nTPM
- heart muscle: 41 nTPM
- liver: 40 nTPM
- testis: 40 nTPM
Single-cell type
- fallopian tube ciliated cells: 383 nCPM
- respiratory ciliated cells: 366 nCPM
- choroid plexus epithelial cells: 266 nCPM
- endometrial ciliated cells: 250 nCPM
- late primary spermatocytes: 242 nCPM
- epididymal efferent duct ciliated cells: 229 nCPM
Immune cell
- basophil: 35 nTPM
- memory B-cell: 34 nTPM
- naive CD4 T-cell: 24 nTPM
- naive CD8 T-cell: 24 nTPM
- naive B-cell: 23 nTPM
- plasmacytoid DC: 20 nTPM
Brain region
- choroid plexus: 34 nTPM
- midbrain: 18 nTPM
- medulla oblongata: 18 nTPM
- spinal cord: 15 nTPM
- hypothalamus: 15 nTPM
- white matter: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IFT43.
Disease | AllUniProt
Conditions IFT43 is implicated in, by any mechanism.
- Cranioectodermal dysplasia 3 (CED3) MIM:614099
- Retinitis pigmentosa 81 (RP81) MIM:617871
- Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) MIM:617866
Disease | GeneticClinVar
39 pathogenic / likely-pathogenic of 336 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Short-rib thoracic dysplasia 18 with polydactyly
- Cranioectodermal dysplasia 3
- Retinitis pigmentosa 81
- Short rib-polydactyly syndrome
- Malignant tumor of urinary bladder
Disease | ImmuneIEDB
Conditions an epitope on IFT43 was assayed in.
- colonic benign neoplasm T cell
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)
- 1.6
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.3
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
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
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Intraflagellar transport protein 43
- Intraflagellar transport protein 43
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IFT43 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 IFT43 as an antibody target. Whether an autoantibody or antibody against IFT43 could matter depends on whether native IFT43 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IFT43 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 IFT43 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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