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    CFAP43 cilia and flagella associated protein 43 [ Homo sapiens (human) ]

    Gene ID: 80217, updated on 5-Mar-2024

    Summary

    Official Symbol
    CFAP43provided by HGNC
    Official Full Name
    cilia and flagella associated protein 43provided by HGNC
    Primary source
    HGNC:HGNC:26684
    See related
    Ensembl:ENSG00000197748 MIM:617558; AllianceGenome:HGNC:26684
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WDR96; HYDNP1; SPGF19; C10orf79; bA373N18.2
    Summary
    This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in testis (RPKM 23.1) and lung (RPKM 3.4) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CFAP43 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104129888..104232364, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (105017999..105120456, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105889646..105992122, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene collagen type XVII alpha 1 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105812840-105813426 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:105813739-105814938 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105826696-105827351 Neighboring gene microRNA 936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105827352-105828006 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:105879992-105881191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105881347-105882010 Neighboring gene SWI5 dependent homologous recombination repair protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:105906549-105907080 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:105915186-105915853 Neighboring gene tropomyosin 3 pseudogene Neighboring gene Sharpr-MPRA regulatory region 1977 Neighboring gene microRNA 609 Neighboring gene Sharpr-MPRA regulatory region 2425 Neighboring gene uncharacterized LOC124902497 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:106013818-106014332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3980 Neighboring gene glutathione S-transferase omega 1 Neighboring gene microRNA 4482

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Normal pressure hydrocephalus
    MedGen: C0020258 OMIM: 236690 GeneReviews: Not available
    Compare labs
    Spermatogenic failure 19
    MedGen: C4539818 OMIM: 617592 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22944, FLJ36006

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebrospinal fluid circulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mucociliary clearance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cilium beat frequency ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in 9+2 motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cilia- and flagella-associated protein 43
    Names
    WD repeat domain 96
    WD repeat-containing protein 96
    WD repeat-containing protein C10orf79

    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.

    Genomic

    1. NG_051581.1 RefSeqGene

      Range
      5014..107490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025145.7NP_079421.5  cilia- and flagella-associated protein 43

      See identical proteins and their annotated locations for NP_079421.5

      Status: REVIEWED

      Source sequence(s)
      AL139341, AL357336
      Consensus CDS
      CCDS31281.1
      UniProtKB/Swiss-Prot
      Q8N9Z8, Q8NDM7, Q8NE17, Q9H085, Q9H5W3
      Related
      ENSP00000349568.3, ENST00000357060.8
      Conserved Domains (4) summary
      COG2319
      Location:102506
      WD40; WD40 repeat [General function prediction only]
      pfam02463
      Location:9101655
      SMC_N; RecF/RecN/SMC N terminal domain
      sd00039
      Location:348385
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:344453
      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_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      104129888..104232364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      105017999..105120456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)