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Aliases for CFAP74 Gene

Aliases for CFAP74 Gene

  • Cilia And Flagella Associated Protein 74 2 3 5
  • KIAA1751 2 3 4
  • C1orf222 3 4
  • Cilia- And Flagella-Associated Protein 74 3
  • Chromosome 1 Open Reading Frame 222 2

External Ids for CFAP74 Gene

Previous HGNC Symbols for CFAP74 Gene

  • C1orf222
  • KIAA1751

Summaries for CFAP74 Gene

GeneCards Summary for CFAP74 Gene

CFAP74 (Cilia And Flagella Associated Protein 74) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CFAP74 Gene

  • As part of the central apparatus of the cilium axoneme may play a role in cilium movement.

Additional gene information for CFAP74 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 CFAP74 Gene

Genomics for CFAP74 Gene

GeneHancer (GH) Regulatory Elements for CFAP74 Gene

Promoters and enhancers for CFAP74 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
GH01I002003 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.8 0.0 0 1 HDAC1 RB1 ARID4B SIN3A BMI1 ZBTB40 EGR1 ATF7 SP5 MBD2 CFAP74 PIR40513
GH01I002001 Enhancer 0.8 ENCODE 550.8 +1.8 1820 0.2 HDAC1 PKNOX1 SIN3A HSF1 ATF7 CEBPB HDAC8 ZNF217 MEF2D ATF4 CFAP74 CCNL2 ENSG00000240731 LOC100288379 INTS11 ATAD3B ENSG00000234396 MXRA8 SDF4 SLC35E2
GH01I001913 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.5 +86.3 86263 7.7 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF143 SP3 SP5 TMEM52 LOC105378949 CALML6 CFAP74 LOC105378589 GABRD
GH01I001906 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +95.7 95650 4.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 LOC105378949 INTS11 ENSG00000240731 CALML6 CCNL2 CDK11A LOC100288379 C1orf159 TMEM52 NOC2L
GH01I002069 Promoter/Enhancer 1.2 EPDnew ENCODE 11.8 -68.0 -67960 4.3 MXI1 ATF1 ATF2 BCL11B RARA TEAD3 ZFHX2 POLR2A BCL11A NR2C1 PRKCZ GC01M002070 GABRD LOC105378589 CFAP74 SCNN1D GC01P002058
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP74 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP74 Gene

Genomic Locations for CFAP74 Gene
chr1:1,921,951-2,003,837
(GRCh38/hg38)
Size:
81,887 bases
Orientation:
Minus strand
chr1:1,884,752-1,935,276
(GRCh37/hg19)

Genomic View for CFAP74 Gene

Genes around CFAP74 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP74 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP74 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP74 Gene

Proteins for CFAP74 Gene

  • Protein details for CFAP74 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0B2-CFA74_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 74
    Protein Accession:
    Q9C0B2
    Secondary Accessions:
    • A4VCI2
    • H7C4E1
    • Q5T2D9
    • Q5T2E0
    • Q69YW0
    • Q6ZSJ4

    Protein attributes for CFAP74 Gene

    Size:
    1584 amino acids
    Molecular mass:
    178589 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI14927.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB21842.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=CAH10703.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP74 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP74 Gene

Post-translational modifications for CFAP74 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CFAP74 Gene

Domains & Families for CFAP74 Gene

Gene Families for CFAP74 Gene

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

Protein Domains for CFAP74 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP74 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0B2

UniProtKB/Swiss-Prot:

CFA74_HUMAN :
  • Belongs to the CFAP74 family.
Family:
  • Belongs to the CFAP74 family.
genes like me logo Genes that share domains with CFAP74: view

Function for CFAP74 Gene

Molecular function for CFAP74 Gene

UniProtKB/Swiss-Prot Function:
As part of the central apparatus of the cilium axoneme may play a role in cilium movement.

Phenotypes From GWAS Catalog for CFAP74 Gene

genes like me logo Genes that share phenotypes with CFAP74: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP74 Gene

Localization for CFAP74 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP74 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 CFAP74 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CFAP74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP74: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP74 Gene

Pathways & Interactions for CFAP74 Gene

SuperPathways for CFAP74 Gene

No Data Available

Interacting Proteins for CFAP74 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000417061%0d%0a9606.ENSP00000307766%0d%0a9606.ENSP00000216714%0d%0a9606.ENSP00000354958%0d%0a
Selected Interacting proteins: ENSP00000417061 Q9C0B2-CFA74_HUMAN for CFAP74 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CFAP74 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035082 axoneme assembly ISS --
genes like me logo Genes that share ontologies with CFAP74: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP74 Gene

Drugs & Compounds for CFAP74 Gene

No Compound Related Data Available

Transcripts for CFAP74 Gene

mRNA/cDNA for CFAP74 Gene

(10) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP74 Gene

No ASD Table

Relevant External Links for CFAP74 Gene

GeneLoc Exon Structure for
CFAP74
ECgene alternative splicing isoforms for
CFAP74

Expression for CFAP74 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP74 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP74 Gene

This gene is overexpressed in Amniocyte (42.4) and Bone marrow mesenchymal stem cell (25.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFAP74 Gene



NURSA nuclear receptor signaling pathways regulating expression of CFAP74 Gene:

CFAP74

Evidence on tissue expression from TISSUES for CFAP74 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with CFAP74: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP74 Gene

Orthologs for CFAP74 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP74 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia KIAA1751 33
  • 76.36 (n)
C1orf222 34
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100362748 33
  • 73.9 (n)
mouse
(Mus musculus)
Mammalia 2010015L04Rik 33
  • 73.62 (n)
Cfap74 16
cow
(Bos Taurus)
Mammalia C1orf222 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1orf222 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1751 33
  • 54.4 (n)
C1orf222 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf222 34
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf222 33
  • 53.69 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-87a12.1 33
  • 48.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToMany
-- 34
  • 11 (a)
OneToMany
Species where no ortholog for CFAP74 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 CFAP74 Gene

ENSEMBL:
Gene Tree for CFAP74 (if available)
TreeFam:
Gene Tree for CFAP74 (if available)

Paralogs for CFAP74 Gene

No data available for Paralogs for CFAP74 Gene

Variants for CFAP74 Gene

Sequence variations from dbSNP and Humsavar for CFAP74 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000003267 -- 1,981,331(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000034351 -- 1,960,405(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000099552 -- 1,961,352(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000120274 -- 1,934,628(-) C/T intron_variant
rs1000123498 -- 1,995,015(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP74 Gene

Variant ID Type Subtype PubMed ID
dgv43n54 CNV loss 21841781
esv1576320 CNV insertion 17803354
esv1718201 CNV insertion 17803354
esv2381744 CNV deletion 18987734
esv25575 CNV gain+loss 19812545
esv2668919 CNV deletion 23128226
esv2758913 CNV gain+loss 17122850
esv3385175 CNV duplication 20981092
esv3559676 CNV deletion 23714750
esv3585019 CNV loss 21293372
esv994854 CNV loss 20482838
nsv1074477 CNV deletion 25765185
nsv1113060 CNV deletion 24896259
nsv482937 CNV loss 15286789
nsv545044 CNV gain 21841781
nsv834335 CNV loss 17160897
nsv834446 CNV loss 17160897
nsv958160 CNV deletion 24416366

Variation tolerance for CFAP74 Gene

Gene Damage Index Score: 19.45; 98.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP74 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP74

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP74 Gene

Disorders for CFAP74 Gene

Additional Disease Information for CFAP74

No disorders were found for CFAP74 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP74 Gene

Publications for CFAP74 Gene

  1. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 3 4 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. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CFAP74 Gene

Sources for CFAP74 Gene

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