CFAP418 - cilia and flagella associated protein 418 Gene

Also Known as RP64; BBS21; MOT25; CORD16; FAP418; C8orf37; smalltalk

Species: Homo sapiens (human)

Gene Type: protein coding
Gene ID: 157657

Summary

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

CFAP418 Products (1)

mRNA Protein Name
NM_001363260.1 NP_001350189.1 cilia- and flagella-associated protein 418 isoform 2

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27173435 GOA
Cellular Component GO Annotation Evidence References Source
located in ciliary base IDA
IDA: Inferred from direct assay
22177090 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
22177090 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

cilia- and flagella-associated protein 418

  • Bardet-Biedl syndrome 21

  • protein C8orf37

CFAP418 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CFAP418 Q96NL8 CAPNS1 Homo sapiens P04632
TAP
27173435
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02552 CFAP410 Human Pre-designed siRNA Set A Pre-designed Set / Unkown