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    CFAP52 cilia and flagella associated protein 52 [ Homo sapiens (human) ]

    Gene ID: 146845, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CFAP52provided by HGNC
    Official Full Name
    cilia and flagella associated protein 52provided by HGNC
    Primary source
    HGNC:HGNC:16053
    See related
    Ensembl:ENSG00000166596 MIM:609804; AllianceGenome:HGNC:16053
    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
    HTX10; WDR16; WDRPUH
    Summary
    WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in testis (RPKM 8.3), lung (RPKM 3.0) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP52 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9576642..9645554)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9484338..9553284)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (9479959..9546764)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene netrin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9129517-9130068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9131120-9131620 Neighboring gene uncharacterized LOC124903923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9130069-9130619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9133199-9133700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8197 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9161269-9161860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9176317-9176818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11724 Neighboring gene NANOG hESC enhancer GRCh37_chr17:9225613-9226114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9232495-9233000 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:9233001-9233506 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:9233507-9234012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9234013-9234518 Neighboring gene syntaxin 8 Neighboring gene Sharpr-MPRA regulatory region 2542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9377307-9377808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9409688-9410556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9410557-9411424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11726 Neighboring gene ribosomal protein L19 pseudogene 18 Neighboring gene uncharacterized LOC124903924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8198 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9549075-9549722 Neighboring gene uncharacterized LOC107985011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:9550412-9551611 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9565481-9565980 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:9579536-9580735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:9604114-9605313 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:9612165-9612329 Neighboring gene ubiquitin specific peptidase 43 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9630942-9631442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9631443-9631943 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:9680825-9681382 Neighboring gene DHRS7C intron CAGE-defined high expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47652 Neighboring gene dehydrogenase/reductase 7C

    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. The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice. Wu B, et al. J Biol Chem, 2023 Jul. PMID 37236356, Free PMC Article
    2. WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation. Silva FP, et al. Neoplasia, 2005 Apr. PMID 15967112, Free PMC Article
    3. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Dougherty GW, et al. Nat Commun, 2020 Nov 2. PMID 33139725, Free PMC Article
    4. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    5. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
      Title: The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
    2. WDRPUH is a novel WD-repeat-containing protein highly expressed in human hepatocellular carcinoma and involved in cell proliferation
      Title: WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation.
    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
    Heterotaxy, visceral, 10, autosomal, with male infertility
    MedGen: C5562072 OMIM: 619607 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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37528

    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 establishment of left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule sliding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+2 motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in axonemal B tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axoneme IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 52
    Names
    WD repeat domain 16
    WD repeat-containing protein 16
    WD40-repeat protein up-regulated in HCC
    WD40-repeat protein upregulated in HCC

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001080556.2 → NP_001074025.1  cilia- and flagella-associated protein 52 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter protein (isoform C), compared to isoform B.
      Source sequence(s)
      AB065281, AK074435
      Consensus CDS
      CCDS42262.1
      UniProtKB/Swiss-Prot
      Q8N1V2
      Related
      ENSP00000379521.3, ENST00000396219.7
      Conserved Domains (3) summary
      COG2319
      Location:222 → 549
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:352 → 391
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:278 → 547
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_145054.5 → NP_659491.4  cilia- and flagella-associated protein 52 isoform b

      See identical proteins and their annotated locations for NP_659491.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (B).
      Source sequence(s)
      AB065281, DB040461
      Consensus CDS
      CCDS11149.2
      UniProtKB/Swiss-Prot
      B2RDU7, Q5DX23, Q8N1V2, Q8TC73, Q8TCI3
      Related
      ENSP00000339449.5, ENST00000352665.10
      Conserved Domains (4) summary
      smart00320
      Location:100 → 141
      WD40; WD40 repeats
      COG2319
      Location:277 → 617
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:420 → 459
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:346 → 615
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      9576642..9645554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435437.1 → XP_047291393.1  cilia- and flagella-associated protein 52 isoform X1

    2. XM_047435439.1 → XP_047291395.1  cilia- and flagella-associated protein 52 isoform X3

    3. XM_047435438.1 → XP_047291394.1  cilia- and flagella-associated protein 52 isoform X2

    4. XM_047435440.1 → XP_047291396.1  cilia- and flagella-associated protein 52 isoform X5

    5. XM_017024227.2 → XP_016879716.1  cilia- and flagella-associated protein 52 isoform X4

    6. XM_047435441.1 → XP_047291397.1  cilia- and flagella-associated protein 52 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      9484338..9553284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315171.1 → XP_054171146.1  cilia- and flagella-associated protein 52 isoform X1

    2. XM_054315173.1 → XP_054171148.1  cilia- and flagella-associated protein 52 isoform X3

    3. XM_054315172.1 → XP_054171147.1  cilia- and flagella-associated protein 52 isoform X2

    4. XM_054315175.1 → XP_054171150.1  cilia- and flagella-associated protein 52 isoform X5

    5. XM_054315174.1 → XP_054171149.1  cilia- and flagella-associated protein 52 isoform X4

    6. XM_054315176.1 → XP_054171151.1  cilia- and flagella-associated protein 52 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1V2.3 GenPept UniProtKB/Swiss-Prot:Q8N1V2

    Gene LinkOut

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

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