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

Gene ID: 146845, updated on 23-Nov-2021

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
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
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Genomic context

See CFAP52 in Genome Data Viewer
Location:
17p13.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (9576642..9643447)
105.20201022 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 uncharacterized LOC105371531 Neighboring gene syntaxin 8 Neighboring gene ribosomal protein L19 pseudogene 18 Neighboring gene uncharacterized LOC107985011 Neighboring gene ubiquitin specific peptidase 43 Neighboring gene DHRS7C intron CAGE-defined high expression enhancer Neighboring gene dehydrogenase/reductase 7C

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Component Evidence Code Pubs
located_in 9+2 motile cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in axoneme IMP
Inferred from Mutant Phenotype
more info
PubMed 

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)

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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_001080556.2NP_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:222549
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:352391
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:278547
    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_145054.5NP_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
    Q8N1V2
    Related
    ENSP00000339449.5, ENST00000352665.10
    Conserved Domains (4) summary
    smart00320
    Location:100141
    WD40; WD40 repeats
    COG2319
    Location:277617
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:420459
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:346615
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    9576642..9643447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024227.1XP_016879716.1  cilia- and flagella-associated protein 52 isoform X1

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