CFAP300 (cilia and flagella associated protein 300)

Gene

• Entrez ID: 85016
• Gene name: Cilia and flagella associated protein 300
• Gene symbol: CFAP300
• Synonyms: C11orf70, CILD38, FBB5
• Chromosome: 11
• Chromosome location: 11q22.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs561237622	C>G,T	Pathogenic	Intron variant, stop gained, missense variant, coding sequence variant
rs745839898	TTT>-,TT	Pathogenic	Frameshift variant, inframe deletion, coding sequence variant
rs754773453	A>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs767760877	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1555069023	TTT>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1555071691	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT643549	hsa-miR-4284	HITS-CLIP	23824327
MIRT643550	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT643551	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT643552	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT643553	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT643554	hsa-miR-4532	HITS-CLIP	23824327
MIRT643555	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT643556	hsa-miR-6890-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29727692
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0031514	Component	Motile cilium	ISS

Other IDs

• MIM: 618058
• HGNC: 28188
• e!Ensembl: ENSG00000137691

Protein

• UniProt ID: Q9BRQ4
• Protein name: Cilia- and flagella-associated protein 300
• Protein function: Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14926	DUF4498	14 → 259	Domain of unknown function (DUF4498)	Family

• Sequence:

  MATGELGDLGGYYFRFLPQKTFQSLSSKEITSRLRQWSMLGRIKAQAFGFDQTFQSYRKD
  DFVMAFFKDPNVIPNLKLLSDSSGQWIILGTEVKKIEAINVPCTQLSMSFFHRLYDEDIV
  RDSGHIVKCLDSFCDPFLISDELRRVLLVEDSEKYEIFSQPDREEFLFCLFKHLCLGGAL
  CQYEDVISPYLETTKLIYKDLVSVRKNPQTKKIQITSSVFKVSAYDSAGMCYPSAKNHEQ
  TFSYFIVDPIRRHLHVLYHCYGVGDMS

• Sequence length: 267

Associated diseases

Disease name	Disease term	References
	Asthenozoospermia
	Asthma
	Bronchiectasis
	Respiratory Distress Syndrome, Newborn
	Primary Ciliary Dyskinesia	29727693, 29727692
	Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	29727692, 29727693
	CILIARY DYSKINESIA, PRIMARY, 38	29727693, 29727692
	Congenital absence of spleen
	Congenital pectus excavatum
	Corneal dystrophy
	Bronchitis, Chronic
	Conductive hearing loss
	Hydrocephalus
	Kartagener Syndrome	29727693, 29727692
	Polynesian Bronchiectasis	29727693, 29727692
	Lung Diseases, Obstructive
	Nasal Polyps
	Otitis Media with Effusion
	Chronic otitis media
	Rhinitis
	Scoliosis, unspecified
	Chronic sinusitis
	Situs inversus totalis