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

Gene ID: 220136, updated on 13-Sep-2025
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
mouse all
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See CFAP53 in Genome Data Viewer
Location:
18q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50227193..50266495, complement)
RS_2025_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

Go to nucleotide: Graphics FASTA GenBank

  • 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

Related articles in PubMed

  1. A human laterality disorder associated with recessive CCDC11 mutation. Perles Z, et al. J Med Genet, 2012 Jun. PMID 22577226
  2. Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans. Gur M, et al. Int J Dev Biol, 2017. PMID 28621423
  3. Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. Narasimhan V, et al. Hum Mutat, 2015 Mar. PMID 25504577
  4. Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry. Silva E, et al. Mol Biol Cell, 2016 Jan 1. PMID 26538025, Free PMC Article
  5. Uncovering structural themes across cilia microtubule inner proteins with implications for human cilia function. Andersen JS, et al. Nat Commun, 2024 Mar 27. PMID 38538594, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CCDC11 is a cilium-associated gene with a role in left-right patterning in Xenopus and in laterality disorders in humans
    Title: Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.
  2. Cfap53 is a conserved regulator of organ laterality in both humans and zebrafish.
    Title: A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
  3. CCDC11 has a conserved essential function in cilia of the vertebrate left-right organizer during embryogenesis.
    Title: Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.
  4. The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member.
    Title: A human laterality disorder associated with recessive CCDC11 mutation.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Heterotaxy, visceral, 6, autosomal
MedGen: C3553676 OMIM: 614779 GeneReviews: Not available
Compare labs
Tetralogy of Fallot
MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
Compare labs

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
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 cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriolar satellite IEA
Inferred from Electronic Annotation
more info
  
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 cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in manchette ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  
located_in polymeric cytoskeletal fiber IEA
Inferred from Electronic Annotation
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 
located_in spindle pole IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
cilia- and flagella-associated protein 53
Names
coiled-coil domain containing 11

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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.

Genomic

  1. NG_042815.1 RefSeqGene

    Range
    5028..44330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_145020.5 → NP_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:54 → 171
    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:130 → 451
    TPH; Trichohyalin-plectin-homology domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96M91.2 GenPept UniProtKB/Swiss-Prot:Q96M91

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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