Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CFAP53 Gene

Aliases for CFAP53 Gene

  • Cilia And Flagella Associated Protein 53 2 3 5
  • Coiled-Coil Domain Containing 11 2 3
  • CCDC11 3 4
  • Cilia- And Flagella-Associated Protein 53 3
  • Coiled-Coil Domain-Containing Protein 11 4
  • HTX6 3

External Ids for CFAP53 Gene

Previous HGNC Symbols for CFAP53 Gene

  • CCDC11

Summaries for CFAP53 Gene

Entrez Gene Summary for CFAP53 Gene

  • 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]

GeneCards Summary for CFAP53 Gene

CFAP53 (Cilia And Flagella Associated Protein 53) is a Protein Coding gene. Diseases associated with CFAP53 include Heterotaxy, Visceral, 6, Autosomal Recessive and Visceral Heterotaxy.

UniProtKB/Swiss-Prot for CFAP53 Gene

  • May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP53 Gene

Genomics for CFAP53 Gene

Regulatory Elements for CFAP53 Gene

Enhancers for CFAP53 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G050306 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -41.5 -41500 2.2 HDAC1 ZSCAN4 ARID4B SIN3A BMI1 RAD21 RFX5 YY1 SP3 SMAD5 CFAP53 SKA1 MBD1 ENSG00000267695 ENSG00000274930
GH18G050297 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.5 -31.9 -31906 1.7 HDGF MXI1 WRNIP1 SIN3A BMI1 ZBTB40 ZBTB48 ELK1 POLR2A ETV6 CFAP53 ENSG00000263916 MBD1 ENSG00000267695 CXXC1
GH18G050239 0.8 ENCODE 16 +26.1 26097 1.8 ZSCAN5A KLF1 JUN INSM2 ZNF223 KLF17 SALL2 HIC1 ZNF791 RBAK SMAD4 MEX3C RPL17 CFAP53 SKA1 ELAC1 CXXC1 ENSG00000277310 RN7SL310P
GH18G050277 1.6 Ensembl ENCODE dbSUPER 6.3 -13.3 -13347 5.4 HDGF PKNOX1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SMAD4 RPL17 CXXC1 CFAP53 MBD1
GH18G050283 1.4 ENCODE dbSUPER 5.4 -19.6 -19634 5.0 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 SMAD4 RPL17 ELAC1 DYM CXXC1 CFAP53 MBD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP53 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP53 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000286084 121 1200 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 ELK1 ZNF143 PAF1 SP3

Genomic Location for CFAP53 Gene

Chromosome:
18
Start:
50,227,193 bp from pter
End:
50,266,522 bp from pter
Size:
39,330 bases
Orientation:
Minus strand

Genomic View for CFAP53 Gene

Genes around CFAP53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP53 Gene

Proteins for CFAP53 Gene

  • Protein details for CFAP53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96M91-CFA53_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 53
    Protein Accession:
    Q96M91
    Secondary Accessions:
    • B4DXT1

    Protein attributes for CFAP53 Gene

    Size:
    514 amino acids
    Molecular mass:
    61835 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71418.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CFAP53 Gene

Post-translational modifications for CFAP53 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP53 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP53 Gene

Domains & Families for CFAP53 Gene

Protein Domains for CFAP53 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP53 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96M91

UniProtKB/Swiss-Prot:

CFA53_HUMAN :
  • Belongs to the CFAP53 family.
Family:
  • Belongs to the CFAP53 family.
genes like me logo Genes that share domains with CFAP53: view

No data available for Gene Families for CFAP53 Gene

Function for CFAP53 Gene

Molecular function for CFAP53 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis.

Gene Ontology (GO) - Molecular Function for CFAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CFAP53: view
genes like me logo Genes that share phenotypes with CFAP53: view

Human Phenotype Ontology for CFAP53 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CFAP53 Gene

miRTarBase miRNAs that target CFAP53

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP53 Gene

Localization for CFAP53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP53 Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFAP53 gene
Compartment Confidence
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for CFAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP53: view

Pathways & Interactions for CFAP53 Gene

SuperPathways for CFAP53 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS --
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry IMP 26531781
GO:0060271 cilium assembly IEA --
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry ISS --
genes like me logo Genes that share ontologies with CFAP53: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP53 Gene

Drugs & Compounds for CFAP53 Gene

No Compound Related Data Available

Transcripts for CFAP53 Gene

mRNA/cDNA for CFAP53 Gene

(1) REFSEQ mRNAs :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP53 Gene

No ASD Table

Relevant External Links for CFAP53 Gene

GeneLoc Exon Structure for
CFAP53
ECgene alternative splicing isoforms for
CFAP53

Expression for CFAP53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP53 Gene

Protein differential expression in normal tissues from HIPED for CFAP53 Gene

This gene is overexpressed in Urine (32.7), Islet of Langerhans (15.3), Heart (7.4), and Cerebrospinal fluid (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFAP53 Gene



NURSA nuclear receptor signaling pathways regulating expression of CFAP53 Gene:

CFAP53

mRNA Expression by UniProt/SwissProt for CFAP53 Gene:

Q96M91-CFA53_HUMAN
Tissue specificity: Expressed in skin fibroblasts (at protein level).

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP53 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • lymphatic
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with CFAP53: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for CFAP53 Gene

Orthologs for CFAP53 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC11 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia CCDC11 34 35
  • 87.16 (n)
cow
(Bos Taurus)
Mammalia CCDC11 35
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc11 34
  • 78.8 (n)
mouse
(Mus musculus)
Mammalia Ccdc11 34 35
  • 78.1 (n)
Cfap53 16
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC11 35
  • 48 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC11 35
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC11 35
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc11 34
  • 52.37 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101883738 34
  • 49.01 (n)
ccdc11 35
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
Species where no ortholog for CFAP53 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFAP53 Gene

ENSEMBL:
Gene Tree for CFAP53 (if available)
TreeFam:
Gene Tree for CFAP53 (if available)

Paralogs for CFAP53 Gene

Pseudogenes.org Pseudogenes for CFAP53 Gene

genes like me logo Genes that share paralogs with CFAP53: view

No data available for Paralogs for CFAP53 Gene

Variants for CFAP53 Gene

Sequence variations from dbSNP and Humsavar for CFAP53 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_077590 Heterotaxy, visceral, 6, autosomal (HTX6) [MIM:614779]
rs375801610 Pathogenic 50,262,168(+) GCGTC(A/G)GATTC reference, stop-gained
rs886037751 Likely pathogenic 50,261,065(-) AATTC(A/G)GGTAA reference, missense
rs112087763 Likely benign 50,262,174(+) GATTC(G/T)TTCTA reference, synonymous-codon
rs180778332 Likely benign 50,266,348(+) ACCAC(C/T)TTGGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CFAP53 Gene

Variant ID Type Subtype PubMed ID
esv3416788 CNV insertion 20981092
nsv1057599 CNV gain 25217958
nsv576889 CNV loss 21841781

Variation tolerance for CFAP53 Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.09; 92.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP53 Gene

Human Gene Mutation Database (HGMD)
CFAP53
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP53 Gene

Disorders for CFAP53 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CFAP53 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
heterotaxy, visceral, 6, autosomal recessive
  • heterotaxy, visceral, 6, autosomal
visceral heterotaxy
  • heterotaxia
dextrocardia with situs inversus
  • situs inversus
heterotaxy
  • heterotaxia
situs inversus
  • complete transposition
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CFA53_HUMAN
  • Heterotaxy, visceral, 6, autosomal (HTX6) [MIM:614779]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. {ECO:0000269 PubMed:22577226, ECO:0000269 PubMed:26531781}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CFAP53

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP53
genes like me logo Genes that share disorders with CFAP53: view

No data available for Genatlas for CFAP53 Gene

Publications for CFAP53 Gene

  1. A human laterality disorder associated with recessive CCDC11 mutation. (PMID: 22577226) Perles Z. … Elpeleg O. (J. Med. Genet. 2012) 2 3 4 64
  2. A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function. (PMID: 26531781) NoAl E.S. … Bakkers J. (Hum. Mutat. 2016) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left-Right Organizer. (PMID: 25504577) Narasimhan V. … Omran H. (Hum. Mutat. 2015) 3 64

Products for CFAP53 Gene

Sources for CFAP53 Gene

Content
Loading form....