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    CFAP74 cilia and flagella associated protein 74 [ Homo sapiens (human) ]

    Gene ID: 85452, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CFAP74provided by HGNC
    Official Full Name
    cilia and flagella associated protein 74provided by HGNC
    Primary source
    HGNC:HGNC:29368
    See related
    Ensembl:ENSG00000142609 MIM:620187; AllianceGenome:HGNC:29368
    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
    CILD49; C1orf222; KIAA1751
    Summary
    Predicted to be involved in axoneme assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 3.3), lung (RPKM 0.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.33
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1921957..2003786, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1356370..1439078, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1853396..1935225, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1850035-1850836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1850896-1851489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1851490-1852082 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1853696-1853880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1854781-1855281 Neighboring gene calmodulin like 6 Neighboring gene transmembrane protein 52 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1871092-1871328 Neighboring gene uncharacterized LOC107984872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1889089-1889729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1889730-1890369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1891315-1892020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1902122-1902903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1904270-1904833 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1905091-1905258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1910063-1911020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1911021-1911978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1917517-1918208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1918209-1918899 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:1919795-1920994 Neighboring gene Sharpr-MPRA regulatory region 11961 Neighboring gene uncharacterized LOC105378589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1949800-1950378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1950379-1950956 Neighboring gene gamma-aminobutyric acid type A receptor subunit delta

    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. Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure. Biebach L, et al. Am J Respir Cell Mol Biol, 2022 Sep. PMID 36047773, Free PMC Article
    2. Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. Sha Y, et al. J Hum Genet, 2020 Nov. PMID 32555313
    3. Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Han JH, et al. Hum Mol Genet, 2022 Jun 22. PMID 34999892, Free PMC Article
    4. The full-ORF clone resource of the German cDNA Consortium. Bechtel S, et al. BMC Genomics, 2007 Oct 31. PMID 17974005, Free PMC Article
    5. The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. Warnatz HJ, et al. J Biol Chem, 2011 Jul 1. PMID 21555518, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
      Title: Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
    2. Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
      Title: Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype.
    3. KIAA1751 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
      Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
    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, 49, without situs inversus
    MedGen: C5774291 OMIM: 620197 GeneReviews: Not available
    		not available

    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

    • FLJ37323, FLJ45476, KIAA1751, MGC133181, DKFZp434B1120

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in sperm flagellum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 74

    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_001304360.2 → NP_001291289.1  cilia- and flagella-associated protein 74

      Status: VALIDATED

      Source sequence(s)
      AB051538, AK127388, AL109917, AW665824, BC114926, BC139754, DN831193, EG328263
      Consensus CDS
      CCDS90840.1
      UniProtKB/Swiss-Prot
      A4VCI2, H7C4E1, Q5T2D9, Q5T2E0, Q69YW0, Q6ZSJ4, Q9C0B2
      UniProtKB/TrEMBL
      A0A804HLA9
      Related
      ENSP00000508276.2, ENST00000682832.2
      Conserved Domains (1) summary
      COG1340
      Location:53 → 364
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      1921957..2003786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      1356370..1439078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001003808.1: Suppressed sequence

      Description
      NM_001003808.1: This RefSeq was permanently suppressed because the CDS was partial.

    2. NM_001080484.1: Suppressed sequence

      Description
      NM_001080484.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0B2.3 GenPept UniProtKB/Swiss-Prot:Q9C0B2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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