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

    Gene ID: 85016, updated on 27-Nov-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, Nov 2024]
    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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    See CFAP300 in Genome Data Viewer
    Location:
    11q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102047437..102084554)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (102049520..102086624)
    RS_2024_09 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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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