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.

Additional gene information for CFAP100 Gene

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

GeneHancer (GH) Regulatory Elements for CFAP100 Gene

Promoters and enhancers for CFAP100 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
GH03J126394 Promoter 0.5 EPDnew 650.7 +0.1 112 0.1 CFAP100 CCDC37-DT LOC105374089
GH03J126266 Enhancer 1.3 Ensembl ENCODE dbSUPER 10 -127.0 -126980 3.4 ATF1 ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 FOS ATF7 RXRA ENSG00000250934 KLF15 CFAP100 CCDC37-DT ALDH1L1 ALDH1L1-AS2 ENPP7P4 ENSG00000251448 GC03P126153
GH03J126373 Enhancer 0.7 ENCODE dbSUPER 11.4 -20.8 -20779 0.6 SP1 RXRA ZNF184 ZFP64 HNF4A RAD21 NR2F2 CCDC37-DT CFAP100 KLF15
GH03J126420 Enhancer 0.6 ENCODE 12.7 +25.7 25740 0.2 SAP130 EBF1 ETV5 THRB RARA GABPA ETS1 ETV4 RXRB CCDC37-DT CFAP100 LOC105374089
GH03J125989 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 2.3 -404.2 -404192 1.8 ARID4B SIN3A ZBTB40 RAD21 YY1 ETS1 ZNF335 POLR2B EGR1 THAP11 ALG1L PIR42058 FAM86JP ROPN1B SLC41A3 CFAP100 ZXDC ENSG00000248607
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP100 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP100 Gene

Genomic Locations for CFAP100 Gene
chr3:126,394,893-126,436,556
(GRCh38/hg38)
Size:
41,664 bases
Orientation:
Plus strand
chr3:126,113,782-126,155,399
(GRCh37/hg19)

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

Gene Families for CFAP100 Gene

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

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

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP100

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP100 Gene

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

mRNA/cDNA for CFAP100 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP100

Clone 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 33
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC37 34 33
  • 77.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc37 33
  • 75.22 (n)
cow
(Bos Taurus)
Mammalia CCDC37 34 33
  • 74.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc37 34 33
  • 74.22 (n)
OneToOne
Cfap100 16
oppossum
(Monodelphis domestica)
Mammalia CCDC37 34
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC37 34
  • 29 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC37 34 33
  • 55.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC37 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc37 33
  • 54.8 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537661 33
  • 53.61 (n)
ccdc37 34
  • 40 (a)
OneToMany
CCDC37 (2 of 2) 34
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP100: view image

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 Variation AA Info Type
rs1000038244 -- 126,430,500(+) AAAAA/AAA genic_downstream_transcript_variant, intron_variant
rs1000163692 -- 126,424,218(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000310973 -- 126,396,974(+) A/T intron_variant
rs1000313787 -- 126,435,808(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000356812 -- 126,408,012(+) A/G 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)

Additional Variant Information 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

Additional Disease Information for 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 WS (The Journal of cell biology 2013) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. (PMID: 26598620) Dart AE … Wells CM (The Journal of cell biology 2015) 3 58
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M … Stelzl U (Nature methods 2013) 3 58

Products for CFAP100 Gene

Sources for CFAP100 Gene

Content
Loading form....