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Aliases for CFAP45 Gene

Aliases for CFAP45 Gene

  • Cilia And Flagella Associated Protein 45 2 3 5
  • Nasopharyngeal Epithelium-Specific Protein 1 3 4
  • Cilia- And Flagella-Associated Protein 45 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
  • 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 Nasopharyngeal Disease 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
GH01J159908 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 600.4 -17.3 -17318 18.5 SP1 ZFX ELF3 ZKSCAN8 CBFA2T2 ZNF148 NKRF MLLT1 ZNF121 POLR2A TAGLN2 GC01M159919 GC01M159886 CFAP45 ENSG00000228606 SLAMF8 RAD1P2 NCSTN ENSG00000272668 SNHG28
GH01J159899 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 600.7 -0.7 -725 2.5 SP1 MLLT1 CSDE1 RFX1 HDAC1 CTBP1 POLR2A KLF9 BMI1 ZSCAN29 CFAP45 MIR4259 ENSG00000272668 SNHG28 GC01P159904 PIR60584 GC01M159886
GH01J159898 Enhancer 0.6 ENCODE dbSUPER 600.7 +1.5 1460 1.2 ZNF24 SCRT2 MIR4259 CFAP45 ENSG00000272668 SNHG28 VSIG8 GC01M159886 ENSG00000256029
GH01J160187 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 5.3 -290.6 -290612 6.7 ZNF473 CC2D1A CTCF ZNF148 MLLT1 CEBPG ZSCAN21 CDC5L MCM2 SP7 CASQ1 USP21 PPOX ENSG00000228606 LOC729867 NCSTN SNHG28 COPA RPSAP18 SLAMF8
GH01J159936 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 -41.4 -41409 10.5 CC2D1A SP1 CTCF SIX5 ZNF148 ZNF121 CSDE1 NFIB ZSCAN21 MYC IGSF9 ATP1A4 KCNJ10 NHLH1 LINC01133 VSIG8 CFAP45 VANGL2 TAGLN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP45 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP45 Gene

Genomic Locations for CFAP45 Gene
chr1:159,872,364-159,900,165
(GRCh38/hg38)
Size:
27,802 bases
Orientation:
Minus strand
chr1:159,842,154-159,869,953
(GRCh37/hg19)
Size:
27,800 bases
Orientation:
Minus strand

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:
  • Nasopharyngeal epithelium-specific protein 1 (CCD19_HUMAN)

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

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

Animal Model Products

CRISPR Products

miRNA for CFAP45 Gene

miRTarBase miRNAs that target CFAP45

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP45

Clone Products

  • Applied Biological Materials (abm): Clones for CFAP45 - Now 50% OFF >
  • * CFAP45 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CFAP45 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 2
cytosol 0

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

PathCards logo

SuperPathways for CFAP45 Gene

No Data Available

Interacting Proteins for CFAP45 Gene

STRING Interaction Network Preview (showing top 3 STRING interactants - click image to see details)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000357079%0d9606.ENSP00000331044%0d9606.ENSP00000317379%0d9606.ENSP00000339299%0d
Selected Interacting proteins: ENSP00000357079 Q9UL16-CFA45_HUMAN for CFAP45 Gene via STRING IID

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

mRNA/cDNA for CFAP45 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP45

Clone Products

  • Applied Biological Materials (abm): Clones for CFAP45 - Now 50% OFF >
  • * CFAP45 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CFAP45 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

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 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)

No data available for mRNA expression in normal human tissues , 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 35 34
  • 90.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC19 35 34
  • 89.44 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc19 34
  • 85.77 (n)
mouse
(Mus musculus)
Mammalia Ccdc19 35 34
  • 84.75 (n)
OneToOne
Cfap45 17
dog
(Canis familiaris)
Mammalia CCDC19 34 35
  • 84.46 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC19 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 52 (a)
OneToMany
-- 35
  • 47 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC19 34 35
  • 65.86 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC19 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc19 34
  • 64.5 (n)
MGC76242 34
zebrafish
(Danio rerio)
Actinopterygii ccdc19 35 34
  • 57.02 (n)
OneToOne
wufc64b08 34
fruit fly
(Drosophila melanogaster)
Insecta CG11449 35 34
  • 45.46 (n)
OneToMany
CG5062 35
  • 17 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001112 34
  • 43.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP45: view image

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/G 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

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

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

Disorders for CFAP45 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nasopharyngeal disease
  • nasopharyngeal diseases
nasopharyngeal carcinoma
  • npc
pharynx cancer
  • pharyngeal cancer
- 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. Long noncoding RNA MAGI2-AS3 regulates CCDC19 expression by sponging miR-15b-5p and suppresses bladder cancer progression. (PMID: 30442369) Wang F … Li G (Biochemical and biophysical research communications 2018) 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for CFAP45 Gene

Sources for CFAP45 Gene

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