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

Aliases for CFAP45 Gene

Aliases for CFAP45 Gene

  • Cilia And Flagella Associated Protein 45 2 3 5
  • Nasopharyngeal Epithelium-Specific Protein 1 3 4
  • Coiled-Coil Domain Containing 19 2 3
  • CCDC19 3 4
  • NESG1 3 4
  • Coiled-Coil Domain-Containing Protein 19, Mitochondrial 3
  • Nasopharyngeal Epithelium Specific Protein 1 (NESG1) 3
  • Cilia- And Flagella-Associated Protein 45 3
  • Coiled-Coil Domain-Containing Protein 19 4
  • Protein CFAP45, Mitochondrial 3

External Ids for CFAP45 Gene

Previous HGNC Symbols for CFAP45 Gene

  • CCDC19

Summaries for CFAP45 Gene

GeneCards Summary for CFAP45 Gene

CFAP45 (Cilia And Flagella Associated Protein 45) is a Protein Coding gene. Diseases associated with CFAP45 include Pharynx Cancer and Nasopharyngeal Carcinoma.

Additional gene information for CFAP45 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP45 Gene

Genomics for CFAP45 Gene

GeneHancer (GH) Regulatory Elements for CFAP45 Gene

Promoters and enhancers for CFAP45 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I159899 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.7 -727 2.5 CTCF HDAC1 MEIS2 SIN3A BMI1 E2F1 CTBP1 GATA3 POLR2A VEZF1 CFAP45 MIR4259 ENSG00000272668 SNHG28 GC01P159904 PIR60584 GC01M159886
GH01I159898 Enhancer 0.8 Ensembl ENCODE dbSUPER 550.8 +1.5 1458 1.2 SCRT2 ZNF24 CFAP45 MIR4259 ENSG00000272668 SNHG28 VSIG8 GC01M159886 ENSG00000256029
GH01I159936 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 -41.3 -41294 10.5 PKNOX1 CLOCK SIN3A ZNF2 ZBTB7B YY1 ZNF143 KLF13 SP3 NFYC IGSF9 ATP1A4 KCNJ10 NHLH1 LINC01133 VSIG8 CFAP45 VANGL2 TAGLN2
GH01I160187 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 5.3 -290.6 -290614 6.7 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF143 ZNF548 KLF13 CASQ1 USP21 LOC100287049 PPOX LOC729867 NCSTN SNHG28 RPSAP18 SLAMF8 B4GALT3
GH01I159888 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 0.4 +9.7 9680 3 HDGF ATF1 SIN3A ZNF2 IRF4 GLIS2 ARID2 ZNF207 ZNF143 ATF7 ENSG00000272668 SLAMF8 SNHG28 FCRL6 VSIG8 ENSG00000212161 IGSF9 DUSP23 PIGM SLAMF9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP45 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP45 Gene

Genomic Locations for CFAP45 Gene
chr1:159,872,364-159,900,163
(GRCh38/hg38)
Size:
27,800 bases
Orientation:
Minus strand
chr1:159,842,154-159,869,953
(GRCh37/hg19)

Genomic View for CFAP45 Gene

Genes around CFAP45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP45 Gene

Proteins for CFAP45 Gene

  • Protein details for CFAP45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL16-CFA45_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 45
    Protein Accession:
    Q9UL16
    Secondary Accessions:
    • C9JH28
    • Q05BA3
    • Q5VU18

    Protein attributes for CFAP45 Gene

    Size:
    551 amino acids
    Molecular mass:
    65730 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD55817.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD55817.1; Type=Frameshift; Positions=441; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP45 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP45 Gene

Post-translational modifications for CFAP45 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP45 Gene

No data available for DME Specific Peptides for CFAP45 Gene

Domains & Families for CFAP45 Gene

Gene Families for CFAP45 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CFAP45 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP45 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UL16

UniProtKB/Swiss-Prot:

CFA45_HUMAN :
  • Belongs to the CFAP45 family.
Family:
  • Belongs to the CFAP45 family.
genes like me logo Genes that share domains with CFAP45: view

Function for CFAP45 Gene

Phenotypes From GWAS Catalog for CFAP45 Gene

Phenotypes for CFAP45 Gene

genes like me logo Genes that share phenotypes with CFAP45: view

Animal Model Products

miRNA for CFAP45 Gene

miRTarBase miRNAs that target CFAP45

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP45 Gene

Localization for CFAP45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP45 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 CFAP45 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFAP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10524255
GO:0005654 nucleoplasm IDA --
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP45: view

Pathways & Interactions for CFAP45 Gene

SuperPathways for CFAP45 Gene

No Data Available

Interacting Proteins for CFAP45 Gene

Gene Ontology (GO) - Biological Process for CFAP45 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP45 Gene

Drugs & Compounds for CFAP45 Gene

No Compound Related Data Available

Transcripts for CFAP45 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP45 Gene

No ASD Table

Relevant External Links for CFAP45 Gene

GeneLoc Exon Structure for
CFAP45
ECgene alternative splicing isoforms for
CFAP45

Expression for CFAP45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP45 Gene

Protein differential expression in normal tissues from HIPED for CFAP45 Gene

This gene is overexpressed in Plasma (48.9) and Liver, secretome (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFAP45 Gene



Protein tissue co-expression partners for CFAP45 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP45 Gene:

CFAP45

mRNA Expression by UniProt/SwissProt for CFAP45 Gene:

Q9UL16-CFA45_HUMAN
Tissue specificity: Expressed in nasopharyngeal epithelium and trachea but not in esophagus, stomach, large intestine, liver, cerebrum, heart, bladder, kidney, thymus, or lung.

Evidence on tissue expression from TISSUES for CFAP45 Gene

  • Blood(2)
genes like me logo Genes that share expression patterns with CFAP45: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP45 Gene

Orthologs for CFAP45 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP45 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC19 33 34
  • 90.98 (n)
cow
(Bos Taurus)
Mammalia CCDC19 33 34
  • 89.44 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc19 33
  • 85.77 (n)
mouse
(Mus musculus)
Mammalia Ccdc19 33 34
  • 84.75 (n)
Cfap45 16
dog
(Canis familiaris)
Mammalia CCDC19 33 34
  • 84.46 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC19 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 52 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC19 33 34
  • 65.86 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC19 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc19 33
  • 64.5 (n)
MGC76242 33
zebrafish
(Danio rerio)
Actinopterygii ccdc19 33 34
  • 57.02 (n)
wufc64b08 33
fruit fly
(Drosophila melanogaster)
Insecta CG11449 33 34
  • 45.46 (n)
CG5062 34
  • 17 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001112 33
  • 43.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
Species where no ortholog for CFAP45 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 CFAP45 Gene

ENSEMBL:
Gene Tree for CFAP45 (if available)
TreeFam:
Gene Tree for CFAP45 (if available)

Paralogs for CFAP45 Gene

No data available for Paralogs for CFAP45 Gene

Variants for CFAP45 Gene

Sequence variations from dbSNP and Humsavar for CFAP45 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000004436 -- 159,896,640(-) A/C intron_variant
rs1000107619 -- 159,874,516(-) GGGGG/GGGGGG intron_variant
rs1000324876 -- 159,894,041(-) A/G intron_variant
rs1000344421 -- 159,878,176(-) T/A intron_variant
rs1000607023 -- 159,895,161(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP45 Gene

Variant ID Type Subtype PubMed ID
esv3578218 CNV loss 25503493
nsv1005195 CNV gain 25217958
nsv464150 CNV gain 19166990
nsv548052 CNV gain 21841781

Variation tolerance for CFAP45 Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.53; 82.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP45 Gene

Human Gene Mutation Database (HGMD)
CFAP45
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP45

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP45 Gene

Disorders for CFAP45 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CFAP45 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pharynx cancer
  • pharyngeal cancer
nasopharyngeal carcinoma
  • npca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP45

genes like me logo Genes that share disorders with CFAP45: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP45 Gene

Publications for CFAP45 Gene

  1. Molecular cloning of a novel tissue-specific gene from human nasopharyngeal epithelium. (PMID: 10524255) Li Z … Cao Y (Gene 1999) 2 3 4 58
  2. Decreased expression of updated NESG1 in nasopharyngeal carcinoma: its potential role and preliminarily functional mechanism. (PMID: 20715168) Liu Z … Fang W (International journal of cancer 2011) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  5. Candidate tumour suppressor CCDC19 regulates miR-184 direct targeting of C-Myc thereby suppressing cell growth in non-small cell lung cancers. (PMID: 24976536) Liu Z … Fang W (Journal of cellular and molecular medicine 2014) 3 58

Products for CFAP45 Gene

Sources for CFAP45 Gene

Content
Loading form....