IFT27
Intraflagellar transport protein 27 homolog
Also known as: BBS19, FAP156, IFT27_HUMAN, RABL4, RAYL
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BW83
- Gene
- IFT27
- Ensembl
- ENSG00000100360
- Chromosome
- 22
- Canonical length
- 186 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
OverviewNCBI Gene
This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Canonical amino-acid sequenceUniProt
186 residues, UniProt reviewed canonical sequence.
>Q9BW83|IFT27
1 MVKLAAKCIL AGDPAVGKTA LAQIFRSDGA HFQKSYTLTT GMDLVVKTVP VPDTGDSVEL
61 FIFDSAGKEL FSEMLDKLWE SPNVLCLVYD VTNEESFNNC SKWLEKARSQ APGISLPGVL
121 VGNKTDLAGR RAVDSAEARA WALGQGLECF ETSVKEMENF EAPFHCLAKQ FHQLYREKVE
181 VFRALALocalizationUniProt · AlphaFold · HPA
Whether an antibody against IFT27 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)
- 0.28
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 41 nTPM
- pituitary gland: 38 nTPM
- fallopian tube: 34 nTPM
- basal ganglia: 33 nTPM
- amygdala: 31 nTPM
- hypothalamus: 29 nTPM
Single-cell type
- epididymal efferent duct ciliated cells: 317 nCPM
- respiratory ciliated cells: 306 nCPM
- fallopian tube ciliated cells: 278 nCPM
- late primary spermatocytes: 138 nCPM
- ependymal cells: 127 nCPM
- endometrial ciliated cells: 116 nCPM
Immune cell
- myeloid DC: 39 nTPM
- eosinophil: 36 nTPM
- classical monocyte: 32 nTPM
- plasmacytoid DC: 31 nTPM
- non-classical monocyte: 30 nTPM
- T-reg: 30 nTPM
Brain region
- choroid plexus: 50 nTPM
- midbrain: 43 nTPM
- medulla oblongata: 38 nTPM
- spinal cord: 36 nTPM
- thalamus: 36 nTPM
- pons: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IFT27.
Disease | AllUniProt
Conditions IFT27 is implicated in, by any mechanism.
- Bardet-Biedl syndrome 19 (BBS19) MIM:615996
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 202 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Bardet-Biedl syndrome 19
- IFT27-related disorder
- Bardet-Biedl syndrome
- Jeune thoracic dystrophy
- Hepatocellular carcinoma
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)
- 1.41
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.22
- DepMap mean gene effect
- 0.04
- 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
- cilium assembly
- cochlea development
- inner ear receptor cell stereocilium organization
- intracellular protein transport
- intraciliary anterograde transport
- intraciliary transport
- kidney development
- smoothened signaling pathway
- spermatogenesis
- vesicle-mediated transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Small GTPase
- Small GTP-binding domain
- P-loop containing nucleoside triphosphate hydrolase
- Membrane trafficking Rab GTPases
- Ras family
- Intraflagellar transport protein 27 homologue, eukaryotes
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IFT27 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 IFT27 as an antibody target. Whether an autoantibody or antibody against IFT27 could matter depends on whether native IFT27 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IFT27 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 IFT27 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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