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    CFAP53 cilia and flagella associated protein 53 [ Homo sapiens (human) ]

    Gene ID: 220136, updated on 17-Jun-2019

    Summary

    Official Symbol
    CFAP53provided by HGNC
    Official Full Name
    cilia and flagella associated protein 53provided by HGNC
    Primary source
    HGNC:HGNC:26530
    See related
    Ensembl:ENSG00000172361 MIM:614759
    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
    HTX6; CCDC11
    Summary
    This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
    Expression
    Restricted expression toward testis (RPKM 45.5) See more
    Orthologs

    Genomic context

    See CFAP53 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (50227193..50266495, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47753563..47792865, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene myosin VB Neighboring gene microRNA 4320 Neighboring gene RNA, 7SL, cytoplasmic 310, pseudogene Neighboring gene methyl-CpG binding domain protein 1 Neighboring gene CXXC finger protein 1

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ32743

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelial cilium movement involved in determination of left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    cilium IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cilia- and flagella-associated protein 53
    Names
    coiled-coil domain containing 11

    NCBI Reference Sequences (RefSeq)

    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_042815.1 RefSeqGene

      Range
      5001..44330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_145020.5NP_659457.2  cilia- and flagella-associated protein 53

      See identical proteins and their annotated locations for NP_659457.2

      Status: REVIEWED

      Source sequence(s)
      AK302114, BC030606
      Consensus CDS
      CCDS11940.2
      UniProtKB/Swiss-Prot
      Q96M91
      Related
      ENSP00000381553.3, ENST00000398545.5
      Conserved Domains (2) summary
      cd00187
      Location:54171
      TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
      pfam13868
      Location:130451
      TPH; Trichohyalin-plectin-homology domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      50227193..50266495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451100.1XP_024306868.1  cilia- and flagella-associated protein 53 isoform X1

      Conserved Domains (1) summary
      cl25742
      Location:4261
      ERM; Ezrin/radixin/moesin family
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