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CFAP300 cilia and flagella associated protein 300 [ Homo sapiens (human) ]

Gene ID: 85016, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP300provided by HGNC
Official Full Name
cilia and flagella associated protein 300provided by HGNC
Primary source
HGNC:HGNC:28188
See related
Ensembl:ENSG00000137691 MIM:618058; AllianceGenome:HGNC:28188
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBB5; CILD38; DNAAF17; C11orf70
Summary
Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 12.9), endometrium (RPKM 1.2) and 9 other tissues See more
Orthologs
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Genomic context

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Location:
11q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102047437..102084554)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (102049520..102086624)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101918168..101955285)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5433 Neighboring gene angiopoietin like 5 Neighboring gene centrosomal protein 126 Neighboring gene proline rich 21 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:101834504-101835703 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:101880742-101881368 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:101881654-101882853 Neighboring gene uncharacterized LOC124902842 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 5S ribosomal pseudogene 535 Neighboring gene NANOG hESC enhancer GRCh37_chr11:101956512-101957013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3859 Neighboring gene Yes1 associated transcriptional regulator Neighboring gene Sharpr-MPRA regulatory region 8516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:102131708-102132212 Neighboring gene uncharacterized LOC105369460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3860

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking. Zietkiewicz E, et al. Am J Respir Cell Mol Biol, 2019 Oct. PMID 30916986
  2. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. Höben IM, et al. Am J Hum Genet, 2018 May 3. PMID 29727693, Free PMC Article
  3. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. Fassad MR, et al. Am J Hum Genet, 2018 May 3. PMID 29727692, Free PMC Article
  4. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. Wang T, et al. Neurobiol Aging, 2015 Jan. PMID 25192599
  5. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. C11orf70 is a preassembly factor involved in the pathogenesis of Primary ciliary dyskinesia.
    Title: Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
  2. C11orf70 is essential for assembly of dynein arms and C11orf70 mutations cause defective cilia motility and Primary ciliary dyskinesia.
    Title: C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 38
MedGen: C4748052 OMIM: 618063 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC13040

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 300
Names
dynein axonemal assembly factor 17
uncharacterized protein C11orf70

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001195005.2 → NP_001181934.1  cilia- and flagella-associated protein 300 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. This variant also differs in the 3' UTR compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AP001527, BC054869
    Consensus CDS
    CCDS53698.1
    UniProtKB/TrEMBL
    Q7Z2V0
    Related
    ENSP00000435482.1, ENST00000534360.1
    Conserved Domains (1) summary
    pfam14926
    Location:14 → 90
    DUF4498; Domain of unknown function (DUF4498)

  2. NM_001363505.2 → NP_001350434.1  cilia- and flagella-associated protein 300 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001527
    UniProtKB/TrEMBL
    E9PM77
    Conserved Domains (1) summary
    pfam14926
    Location:14 → 235
    DUF4498; Domain of unknown function (DUF4498)

  3. NM_032930.3 → NP_116319.2  cilia- and flagella-associated protein 300 isoform 1

    See identical proteins and their annotated locations for NP_116319.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform(1).
    Source sequence(s)
    AK094851, AP001527, BG700929
    Consensus CDS
    CCDS8313.2
    UniProtKB/Swiss-Prot
    E9PJU1, Q9BRQ4
    UniProtKB/TrEMBL
    E9PM77
    Related
    ENSP00000414390.2, ENST00000434758.7
    Conserved Domains (1) summary
    pfam14926
    Location:14 → 259
    DUF4498; Domain of unknown function (DUF4498)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    102047437..102084554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271713.5 → XP_005271770.1  cilia- and flagella-associated protein 300 isoform X1

    Conserved Domains (1) summary
    pfam14926
    Location:14 → 203
    DUF4498; Domain of unknown function (DUF4498)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    102049520..102086624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370306.1 → XP_054226281.1  cilia- and flagella-associated protein 300 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRQ4.3 GenPept UniProtKB/Swiss-Prot:Q9BRQ4

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