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

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
  • Cilia- And Flagella-Associated Protein 100 3
  • 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.

UniProtKB/Swiss-Prot for CFAP100 Gene

  • May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.

No data available for Entrez Gene Summary , CIViC summary , 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 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
GH03G126266 1.4 Ensembl ENCODE dbSUPER 10 -127.0 -126981 3.4 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 FOS MXD4 SMARCB1 KAT8 KLF15 CCDC37-AS1 CFAP100 ALDH1L1 ALDH1L1-AS2 ENPP7P4 ENSG00000250934 ENSG00000251448
GH03G126373 0.8 ENCODE dbSUPER 11.4 -20.8 -20780 0.6 ZFP64 HNF4A RAD21 NR2F2 CCDC37-AS1 CFAP100 KLF15
GH03G126420 0.6 ENCODE 12.7 +25.7 25740 0.2 JUND SAP130 ETV4 THRB RARA RXRB CCDC37-AS1 CFAP100 LOC105374089
GH03G126338 0.9 dbSUPER 5 -54.4 -54425 4.4 FOXA2 ARID4B YY1 PPARG KAT8 ETV4 HNF4A CTCF KLF1 ZIC2 KLF15 CFAP100 LOC105374088
GH03G125989 1.6 FANTOM5 Ensembl ENCODE 2.3 -404.2 -404193 1.8 ARID4B SIN3A RAD21 ZBTB40 YY1 ETS1 ELK1 THAP11 SP3 ZNF362 ALG1L FAM86JP ROPN1B SLC41A3 CFAP100 ZXDC PIR42058 ENSG00000248607
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for CFAP100 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Molecular function for CFAP100 Gene

UniProtKB/Swiss-Prot Function:
May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.

Gene Ontology (GO) - Molecular Function for CFAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070840 dynein complex binding ISS --
genes like me logo Genes that share ontologies with CFAP100: view

Phenotypes for CFAP100 Gene

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

Animal Model Products

Inhibitory RNA Products

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

Localization for CFAP100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP100 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

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 CFAP100 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CFAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0031514 motile cilium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP100: view

Pathways & Interactions for CFAP100 Gene

SuperPathways for CFAP100 Gene

No Data Available

Interacting Proteins for CFAP100 Gene

Gene Ontology (GO) - Biological Process for CFAP100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS --
GO:0036159 inner dynein arm assembly ISS --
GO:2000574 regulation of microtubule motor activity ISS --
genes like me logo Genes that share ontologies with CFAP100: view

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

Inhibitory RNA Products

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

NURSA nuclear receptor signaling pathways regulating expression of CFAP100 Gene:

CFAP100

Evidence on tissue expression from TISSUES for CFAP100 Gene

  • Adrenal gland(2.7)
No Expression Related Data Available

Primer Products

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CCDC37 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia CCDC37 34 35
  • 77.76 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc37 34
  • 75.22 (n)
cow
(Bos Taurus)
Mammalia CCDC37 34 35
  • 74.9 (n)
mouse
(Mus musculus)
Mammalia Ccdc37 34 35
  • 74.22 (n)
Cfap100 16
oppossum
(Monodelphis domestica)
Mammalia CCDC37 35
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC37 35
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC37 34 35
  • 55.31 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC37 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc37 34
  • 54.8 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537661 34
  • 53.61 (n)
ccdc37 35
  • 40 (a)
OneToMany
CCDC37 (2 of 2) 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for CFAP100 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)
  • 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
rs1000038244 -- 126,430,500(+) AAAAT(-/AA)AAATA intron-variant
rs1000163692 -- 126,424,218(+) AGGAC(A/G)TGGGC intron-variant
rs1000310973 -- 126,396,974(+) AAGGC(A/T)TACAG intron-variant
rs1000313787 -- 126,435,808(+) CTCCC(A/G)GGACC intron-variant, upstream-variant-2KB
rs1000356812 -- 126,408,012(+) GCTCC(A/G)TGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP100 Gene

Variant ID Type Subtype PubMed ID
esv3597682 CNV loss 21293372
nsv829717 CNV loss 17160897
nsv955336 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64
  4. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. (PMID: 26598620) Dart A.E. … Wells C.M. (J. Cell Biol. 2015) 3 64
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 64

Products for CFAP100 Gene

Sources for CFAP100 Gene

Content
Loading form....