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Aliases for CFAP53 Gene

Aliases for CFAP53 Gene

  • Cilia And Flagella Associated Protein 53 2 3
  • CCDC11 3 4 6
  • Coiled-Coil Domain-Containing Protein 11 3 4
  • Coiled-Coil Domain Containing 11 2 3
  • HTX6 3 6
  • Cilia- And Flagella-Associated Protein 53 3

External Ids for CFAP53 Gene

Previous HGNC Symbols for CFAP53 Gene

  • CCDC11

Summaries for CFAP53 Gene

GeneCards Summary for CFAP53 Gene

CFAP53 (Cilia And Flagella Associated Protein 53) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP53 Gene

Genomics for CFAP53 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CFAP53 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFAP53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP53 Gene

No data available for Regulatory Elements 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

Proteomics data for CFAP53 Gene at MOPED

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 for CFAP53 Gene

Protein Domains for CFAP53 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96M91

UniProtKB/Swiss-Prot:

CFA53_HUMAN :
  • Q96M91
Family:
  • Belongs to the CFAP53 family.
genes like me logo Genes that share domains with CFAP53: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for CFAP53 Gene

Function for CFAP53 Gene

Gene Ontology (GO) - Molecular Function for CFAP53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CFAP53: view

miRNA for CFAP53 Gene

miRTarBase miRNAs that target CFAP53

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CFAP53 Gene

Localization for CFAP53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP53 Gene

Cell projection, cilium.

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 --
genes like me logo Genes that share ontologies with CFAP53: view

No data available for Subcellular locations from COMPARTMENTS for CFAP53 Gene

Pathways 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:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CFAP53: view

No data available for Pathways by source for CFAP53 Gene

Transcripts for CFAP53 Gene

mRNA/cDNA for CFAP53 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFAP53

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CFAP53
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 for CFAP53 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CFAP53 Gene

mRNA Expression by UniProt/SwissProt for CFAP53 Gene

Q96M91-CFA53_HUMAN
Tissue specificity: Expressed in skin fibroblasts (at protein level).
genes like me logo Genes that share expressions with CFAP53: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal 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 35
  • 99.81 (n)
  • 99.42 (a)
CCDC11 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC11 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC11 35
  • 87.16 (n)
  • 81.52 (a)
CCDC11 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc11 35
  • 78.1 (n)
  • 70.18 (a)
Ccdc11 16
Ccdc11 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC11 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC11 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc11 35
  • 78.8 (n)
  • 70.84 (a)
lizard
(Anolis carolinensis)
Reptilia CCDC11 36
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc11 35
  • 52.37 (n)
  • 40.51 (a)
zebrafish
(Danio rerio)
Actinopterygii ccdc11 36
  • 31 (a)
OneToOne
LOC101883738 35
  • 49.01 (n)
  • 35.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for CFAP53:
  • 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 MAF
rs698617 -- 50,261,886(+) ATAAA(C/T)ATCTC intron-variant
rs768360 -- 50,237,703(+) ATGGT(A/G)TAAGA intron-variant
rs894770 -- 50,227,099(+) GCATA(C/T)GGGTA downstream-variant-500B
rs894771 -- 50,227,121(+) GCAAA(C/T)GGAGC downstream-variant-500B
rs920789 -- 50,251,222(-) TTTCT(C/G)TTTAT intron-variant

Relevant External Links for CFAP53 Gene

HapMap Linkage Disequilibrium report
CFAP53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP53 Gene

Disorders for CFAP53 Gene

(1) OMIM Diseases for CFAP53 Gene (614759)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

No disorders were found 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for CFAP53 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CFAP53
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for CFAP53
    • Block miRNA regulation of CFAP53 using miScript Target Protectors

    Sources for CFAP53 Gene

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