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

    Gene ID: 146845, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ37528

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in establishment of left/right asymmetry PubMed 
    involved_in flagellated sperm motility PubMed 
    involved_in flagellated sperm motility  
    involved_in gene expression  
    involved_in microtubule sliding  
    involved_in single fertilization  
    involved_in spermatid development  
    Component Evidence Code Pubs
    located_in 9+2 motile cilium PubMed 
    is_active_in axonemal B tubule inner sheath  
    located_in axonemal microtubule PubMed 
    located_in axonemal microtubule  
    located_in axoneme PubMed 
    is_active_in sperm flagellum  
    located_in sperm midpiece  

    General protein information

    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)

    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

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