U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 220136, updated on 14-Nov-2024

    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; AllianceGenome:HGNC:26530
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CFAP53 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50227193..50266495, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50428917..50468237, complement)
    RS_2024_09 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47653727-47654926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13312 Neighboring gene microRNA 4320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13313 Neighboring gene RNA, 7SL, cytoplasmic 310, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:47766185-47767384 Neighboring gene uncharacterized LOC124904300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47792269-47793114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47801678-47802178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9457 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47807971-47808551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47808552-47809132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13319 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 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32743

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial cilium movement involved in determination of left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in manchette assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sperm flagellum assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in axonemal A 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in manchette ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    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_042815.1 RefSeqGene

      Range
      5028..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
      B4DXT1, 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: 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_000018.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      50428917..50468237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)