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Aliases for CFAP43 Gene

Aliases for CFAP43 Gene

  • Cilia And Flagella Associated Protein 43 2 3
  • WD Repeat-Containing Protein 96 3 4
  • WD Repeat Domain 96 2 3
  • C10orf79 3 4
  • WDR96 3 4
  • WD Repeat-Containing Protein C10orf79 3
  • Chromosome 10 Open Reading Frame 79 2
  • BA373N18.2 3

External Ids for CFAP43 Gene

Previous HGNC Symbols for CFAP43 Gene

  • C10orf79
  • WDR96

Summaries for CFAP43 Gene

GeneCards Summary for CFAP43 Gene

CFAP43 (Cilia And Flagella Associated Protein 43) is a Protein Coding gene.

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 CFAP43 Gene

Genomics for CFAP43 Gene

Genomic Location for CFAP43 Gene

Chromosome:
10
Start:
104,129,888 bp from pter
End:
104,232,366 bp from pter
Size:
102,479 bases
Orientation:
Minus strand

Genomic View for CFAP43 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFAP43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP43 Gene

No data available for Regulatory Elements for CFAP43 Gene

Proteins for CFAP43 Gene

  • Protein details for CFAP43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDM7-CFA43_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 43
    Protein Accession:
    Q8NDM7
    Secondary Accessions:
    • Q8N9Z8
    • Q8NE17
    • Q9H085
    • Q9H5W3

    Protein attributes for CFAP43 Gene

    Size:
    1665 amino acids
    Molecular mass:
    191984 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66835.1; Type=Frameshift; Positions=34, 625, 849, 1232, 1348, 1351, 1460, 1473, 1524, 1577; Evidence={ECO:0000305}; Sequence=CAI17220.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17221.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40457.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP43 Gene

Proteomics data for CFAP43 Gene at MOPED

Post-translational modifications for CFAP43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP43 Gene

No data available for DME Specific Peptides for CFAP43 Gene

Domains & Families for CFAP43 Gene

Gene Families for CFAP43 Gene

Protein Domains for CFAP43 Gene

Suggested Antigen Peptide Sequences for CFAP43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NDM7

UniProtKB/Swiss-Prot:

CFA43_HUMAN :
  • Belongs to the CFAP43 family.
  • Contains 9 WD repeats.
Family:
  • Belongs to the CFAP43 family.
Similarity:
  • Contains 9 WD repeats.
genes like me logo Genes that share domains with CFAP43: view

Function for CFAP43 Gene

Gene Ontology (GO) - Molecular Function for CFAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CFAP43: view

Phenotypes for CFAP43 Gene

genes like me logo Genes that share phenotypes with CFAP43: view

miRNA for CFAP43 Gene

miRTarBase miRNAs that target CFAP43

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP43 Gene

Localization for CFAP43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP43 Gene

Cell projection, cilium, flagellum.

Gene Ontology (GO) - Cellular Components for CFAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP43: view

No data available for Subcellular locations from COMPARTMENTS for CFAP43 Gene

Pathways & Interactions for CFAP43 Gene

SuperPathways for CFAP43 Gene

No Data Available

Interacting Proteins for CFAP43 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000349568%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q8NDM7-CFA43_HUMAN ENSP00000349568 for CFAP43 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for CFAP43 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP43 Gene

Drugs & Compounds for CFAP43 Gene

No Compound Related Data Available

Transcripts for CFAP43 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP43 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b
SP1: - - - -
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CFAP43 Gene

GeneLoc Exon Structure for
CFAP43
ECgene alternative splicing isoforms for
CFAP43

Expression for CFAP43 Gene

mRNA expression in normal human tissues for CFAP43 Gene

Protein differential expression in normal tissues from HIPED for CFAP43 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (40.3), Spinal cord (15.7), and Lung (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFAP43 Gene



genes like me logo Genes that share expression patterns with CFAP43: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CFAP43 Gene

Orthologs for CFAP43 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP43 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WDR96 35
  • 85.72 (n)
  • 80.11 (a)
WDR96 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR96 35
  • 86.34 (n)
  • 80.17 (a)
WDR96 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr96 35
  • 76.97 (n)
  • 73.96 (a)
Wdr96 16
Wdr96 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WDR96 35
  • 99.56 (n)
  • 98.92 (a)
WDR96 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr96 35
  • 78.07 (n)
  • 75.05 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 49 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia WDR96 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR96 35
  • 58.99 (n)
  • 46.91 (a)
WDR96 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR96 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr96 35
  • 58.05 (n)
  • 47.68 (a)
zebrafish
(Danio rerio)
Actinopterygii wdr96 35
  • 51.89 (n)
  • 40.87 (a)
wdr96 36
  • 39 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003166 35
  • 38.05 (n)
  • 24.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17687 36
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for CFAP43:
  • 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 CFAP43 Gene

ENSEMBL:
Gene Tree for CFAP43 (if available)
TreeFam:
Gene Tree for CFAP43 (if available)

Paralogs for CFAP43 Gene

No data available for Paralogs for CFAP43 Gene

Variants for CFAP43 Gene

Sequence variations from dbSNP and Humsavar for CFAP43 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs479879 -- 104,186,227(+) ATAAA(A/C)TGATA intron-variant, upstream-variant-2KB
rs480185 -- 104,223,851(-) tgcat(A/G)tatgt intron-variant
rs502295 -- 104,229,771(-) GCTGC(A/G)GTGAT intron-variant
rs503980 -- 104,229,616(-) catga(C/T)cttgg intron-variant
rs515910 -- 104,206,646(+) CCTAA(A/G)GTTGT intron-variant

Variation tolerance for CFAP43 Gene

Residual Variation Intolerance Score: 73.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP43 Gene

HapMap Linkage Disequilibrium report
CFAP43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP43 Gene

Disorders for CFAP43 Gene

Relevant External Links for CFAP43

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP43
genes like me logo Genes that share disorders with CFAP43: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP43 Gene

Publications for CFAP43 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 67
  2. 14-3-3 epsilon dynamically interacts with key components of mitogen-activated protein kinase signal module for selective modulation of the TNF-alpha-induced time course-dependent NF-kappaB activity. (PMID: 20462248) Zuo S. … Chen X. (J. Proteome Res. 2010) 67
  3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 67
  4. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch K.P. … Jacob C. (J Neural Transm 2008) 67
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 67

Products for CFAP43 Gene

Sources for CFAP43 Gene

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