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Aliases for CFAP100 Gene

Aliases for CFAP100 Gene

  • Cilia And Flagella Associated Protein 100 2 3 5
  • Coiled-Coil Domain-Containing Protein 37 3 4
  • Coiled-Coil Domain Containing 37 2 3
  • CCDC37 3 4
  • MIA1 3

External Ids for CFAP100 Gene

Previous HGNC Symbols for CFAP100 Gene

  • CCDC37

Summaries for CFAP100 Gene

GeneCards Summary for CFAP100 Gene

CFAP100 (Cilia And Flagella Associated Protein 100) is a Protein Coding gene. An important paralog of this gene is CCDC38.

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 CFAP100 Gene

Genomics for CFAP100 Gene

Regulatory Elements for CFAP100 Gene

Enhancers for CFAP100 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CFAP100 on UCSC Golden Path with GeneCards custom track

Genomic Location for CFAP100 Gene

Chromosome:
3
Start:
126,394,893 bp from pter
End:
126,436,556 bp from pter
Size:
41,664 bases
Orientation:
Plus strand

Genomic View for CFAP100 Gene

Genes around CFAP100 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP100 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP100 Gene

Proteins for CFAP100 Gene

  • Protein details for CFAP100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q494V2-CP100_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 100
    Protein Accession:
    Q494V2
    Secondary Accessions:
    • D3DNA8
    • Q494V1
    • Q494V4
    • Q8N838

    Protein attributes for CFAP100 Gene

    Size:
    611 amino acids
    Molecular mass:
    71117 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFAP100 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP100 Gene

Proteomics data for CFAP100 Gene at MOPED

Post-translational modifications for CFAP100 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP100 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP100 Gene

Domains & Families for CFAP100 Gene

Protein Domains for CFAP100 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP100 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q494V2

UniProtKB/Swiss-Prot:

CP100_HUMAN :
  • Belongs to the CFAP100 family.
Family:
  • Belongs to the CFAP100 family.
genes like me logo Genes that share domains with CFAP100: view

No data available for Gene Families for CFAP100 Gene

Function for CFAP100 Gene

Phenotypes for CFAP100 Gene

GenomeRNAi human phenotypes for CFAP100:
genes like me logo Genes that share phenotypes with CFAP100: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP100 Gene

Localization for CFAP100 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CFAP100 Gene

Pathways & Interactions for CFAP100 Gene

SuperPathways for CFAP100 Gene

No Data Available

Interacting Proteins for CFAP100 Gene

Selected Interacting proteins: Q494V2-CP100_HUMAN for CFAP100 Gene via MINT I2D

Symbol External ID(s) Details
NCK1
--

Gene Ontology (GO) - Biological Process for CFAP100 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP100 Gene

Drugs & Compounds for CFAP100 Gene

No Compound Related Data Available

Transcripts for CFAP100 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP100 Gene

No ASD Table

Relevant External Links for CFAP100 Gene

GeneLoc Exon Structure for
CFAP100
ECgene alternative splicing isoforms for
CFAP100

Expression for CFAP100 Gene

No Expression Related Data Available

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 , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CFAP100 Gene

Orthologs for CFAP100 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP100 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC37 35
  • 74.9 (n)
  • 67.73 (a)
CCDC37 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC37 35
  • 77.76 (n)
  • 71.38 (a)
CCDC37 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc37 35
  • 74.22 (n)
  • 66.9 (a)
Cfap100 16
Ccdc37 36
  • 62 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC37 35
  • 99.24 (n)
  • 98.69 (a)
CCDC37 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc37 35
  • 75.22 (n)
  • 69.42 (a)
oppossum
(Monodelphis domestica)
Mammalia CCDC37 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC37 36
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC37 35
  • 55.31 (n)
  • 47.49 (a)
CCDC37 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC37 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc37 35
  • 54.8 (n)
  • 47.34 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100537661 35
  • 53.61 (n)
  • 43.1 (a)
ccdc37 36
  • 40 (a)
OneToMany
CCDC37 (2 of 2) 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for CFAP100:
  • 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)
  • 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 CFAP100 Gene

ENSEMBL:
Gene Tree for CFAP100 (if available)
TreeFam:
Gene Tree for CFAP100 (if available)

Paralogs for CFAP100 Gene

Paralogs for CFAP100 Gene

genes like me logo Genes that share paralogs with CFAP100: view

Variants for CFAP100 Gene

Sequence variations from dbSNP and Humsavar for CFAP100 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1065256 -- 126,411,987(-) TGTCA(A/C)ACCTC intron-variant
rs1877967 -- 126,420,046(+) CTGAG(G/T)AGGAG intron-variant
rs2363932 -- 126,400,910(+) ttcac(A/G)atagc intron-variant
rs2363933 -- 126,401,070(+) ggtga(A/T)attag intron-variant
rs4410406 -- 126,420,777(+) ACTAC(A/G)TGGGT intron-variant

Variation tolerance for CFAP100 Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP100 Gene

HapMap Linkage Disequilibrium report
CFAP100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP100 Gene

Disorders for CFAP100 Gene

Relevant External Links for CFAP100

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP100

No disorders were found for CFAP100 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP100 Gene

Publications for CFAP100 Gene

  1. The MIA complex is a conserved and novel dynein regulator essential for normal ciliary motility. (PMID: 23569216) Yamamoto R. … Sale W.S. (J. Cell Biol. 2013) 2 3 67
  2. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3
  3. Genome-wide analysis of DNA methylation and the gene expression change in lung cancer. (PMID: 22011669) Kwon Y.J. … Park J.H. (J Thorac Oncol 2012) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. 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

Products for CFAP100 Gene

Sources for CFAP100 Gene

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