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

Gene ID: 85452, updated on 2-Nov-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. Located in cytoplasm; nucleus; and sperm flagellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 3.3), lung (RPKM 0.8) and 1 other tissue See more
Orthologs
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Genomic context

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See CFAP74 in Genome Data Viewer
Location:
1p36.33
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1921957..2003786, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1356370..1439078, complement)
RS_2024_09 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 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 (16) 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
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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

  • FLJ37323, FLJ45476, KIAA1751, MGC133181, DKFZp434B1120

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_2024_08

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

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