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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)

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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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

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