CFAP300 - cilia and flagella associated protein 300 Gene

Also Known as FBB5; CILD38; DNAAF17; C11orf70

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 85016

About CFAP300

Cytogenetic location: 11q22.1 Genomic coordinates (GRCh38): 11:102,047,437-102,084,554 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues and is associated with 3 phenotypes. Biased expression in testis (RPKM 12.9), endometrium (RPKM 1.2) and 9 other tissues.

Summary

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Apr 2022]

CFAP300 Products (3)

mRNA	Protein	Name
NM_001195005.2	NP_001181934.1	cilia- and flagella-associated protein 300 isoform 2
NM_001363505.2	NP_001350434.1	cilia- and flagella-associated protein 300 isoform 3
NM_032930.3	NP_116319.2	cilia- and flagella-associated protein 300 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29727692	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

CFAP300 Protein Structure

DUF4498

0
100
200
267 a.a.

Protein Preferred Names	Protein Names
cilia- and flagella-associated protein 300	dynein axonemal assembly factor 17

Related Diseases

Diseases	Alias
Ciliary Dyskinesia, Primary, 38	CILD38 Ciliary Dyskinesia, Primary, 38, With Or Without Situs Inversus Primary Ciliary Dyskinesia 38 Primary Ciliary Dyskinesia 38 With Or Without Situs Inversus
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Kartagener Syndrome	Kartagener'S Syndrome
Spinal Muscular Atrophy With Lower Extremity Predominant	Spinal Muscular Atrophy With Lower Extremity Predominance Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures Kugelberg-Welander Syndrome, Autosomal Dominant Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures Sma-Led Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS02551	CFAP300 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CFAP300	VGNC	VGNC:71120
Rattus norvegicus	CFAP300	RGD	RGD:1591894
Felis catus	CFAP300	VGNC	VGNC:81996
Canis familiaris	CFAP300	VGNC	VGNC:53318
Mus musculus	CFAP300	MGD	MGI:3045346
Others	CFAP300	NCBI