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

CFAP43 Gene(Protein Coding)

Cilia And Flagella Associated Protein 43

GCID:
GC10M104129
GIFtS:
37
Genes Participants
UDN Logo

Aliases for CFAP43 Gene

Aliases for CFAP43 Gene

  • Cilia And Flagella Associated Protein 43 2 3 5
  • WD Repeat-Containing Protein 96 3 4
  • WD Repeat Domain 96 2 3
  • C10orf79 3 4
  • WDR96 3 4
  • Cilia- And Flagella-Associated Protein 43 3
  • 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

Entrez Gene Summary for CFAP43 Gene

  • This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]

GeneCards Summary for CFAP43 Gene

CFAP43 (Cilia And Flagella Associated Protein 43) is a Protein Coding gene. Diseases associated with CFAP43 include Epithelial Recurrent Erosion Dystrophy.

No data available for CIViC 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

Products:

  1. Regulatory Element

Regulatory Elements for CFAP43 Gene

Enhancers for CFAP43 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
GH10G104109 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8 +122.2 122212 1.6 HDAC1 PKNOX1 JUN SIN3A EBF1 FOSL1 GATA2 PRDM10 FOS IKZF2 SFR1 COL17A1 MIR936 STN1 CFAP43 GSTO1 CFAP58 SLK
GH10G104219 0.8 ENCODE 16.1 +12.1 12050 2.6 ZFP64 ZNF140 MAX ZNF101 RARA ZNF697 TEAD3 HNF4G ZNF680 BHLHE40 SLK CFAP43 INA TAF5 PDCD11 ENSG00000260461 MIR609
GH10G104115 1.6 Ensembl ENCODE dbSUPER 7.6 +112.8 112831 8.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 ZNF143 MIR936 CFAP43 SFR1 COL17A1
GH10G103848 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +379.6 379584 7.6 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS SP3 SH3PXD2A ENSG00000260461 STN1 CFAP43 SH3PXD2A-AS1
GH10G104092 1.3 Ensembl ENCODE dbSUPER 6.4 +138.9 138856 2.5 JUN ZEB1 ZNF7 RFX5 FOSL1 HIC1 ZNF366 ZNF143 FOS ZNF639 MIR936 SFR1 CFAP43 COL17A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP43 on UCSC Golden Path with GeneCards custom track

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

Genes around CFAP43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP43 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CFAP43 Gene

Proteins for CFAP43 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CFAP43 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CFAP43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP43 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP43 Gene

Domains & Families for CFAP43 Gene

Gene Families for CFAP43 Gene

HGNC:

Protein Domains for CFAP43 Gene

InterPro:
ProtoNet:

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.
Family:
  • Belongs to the CFAP43 family.
genes like me logo Genes that share domains with CFAP43: view

Function for CFAP43 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
genes like me logo Genes that share phenotypes with CFAP43: view

Animal Model Products

miRNA for CFAP43 Gene

miRTarBase miRNAs that target CFAP43

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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.

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 CFAP43 gene
Compartment Confidence
nucleus 2
cytosol 2

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

Pathways & Interactions for CFAP43 Gene

SuperPathways for CFAP43 Gene

PathCards logo More details on SuperPathways for CFAP43
No Data Available

Interacting Proteins for CFAP43 Gene

Selected Interacting proteins: Q8NDM7-CFA43_HUMAN for CFAP43 Gene via IID

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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CFAP43 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CFAP43 Gene

(15) REFSEQ mRNAs :
(55) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP43 Gene

mRNA expression in normal human tissues for CFAP43 Gene
mRNA expression by GTEx for CFAP43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for CFAP43 Gene



NURSA nuclear receptor signaling pathways regulating expression of CFAP43 Gene:

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

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia WDR96 35 34
  • 99.56 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia WDR96 35 34
  • 86.34 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia WDR96 35 34
  • 85.72 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Wdr96 34
  • 78.07 (n)
mouse
(Mus musculus)
 Mammalia Wdr96 35 34
  • 76.97 (n)
 OneToOne
Cfap43 16
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 59 (a)
 OneToMany
-- 35
  • 52 (a)
 OneToMany
-- 35
  • 49 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia WDR96 35
  • 59 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves WDR96 35 34
  • 58.99 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia WDR96 35
  • 48 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia wdr96 34
  • 58.05 (n)
zebrafish
(Danio rerio)
 Actinopterygii wdr96 35 34
  • 51.89 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003166 34
  • 38.05 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG17687 35
  • 17 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 39 (a)
 OneToOne
Species where no ortholog for CFAP43 was found in the sources mined by GeneCards:
  • 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
rs193921081 Uncertain significance 104,185,106(-) GGGTC(A/G)TGGGA reference, missense, utr-variant-5-prime
rs1000000961 -- 104,170,899(+) TCCCA(C/T)CCACG intron-variant
rs1000041148 -- 104,171,203(+) GAAAT(A/G)TGTCT intron-variant
rs1000097070 -- 104,215,270(+) TGAAG(G/T)AAAAG intron-variant, upstream-variant-2KB
rs1000125507 -- 104,159,164(+) CGATA(C/G)AAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP43 Gene

Variant ID Type Subtype PubMed ID
nsv7533 CNV insertion 18451855
nsv831971 CNV gain 17160897
nsv948176 CNV duplication 23825009

Variation tolerance for CFAP43 Gene

Residual Variation Intolerance Score: 73.7% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP43 Gene

Disorders for CFAP43 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFAP43 Gene - From: GeneCards

Disorder Aliases PubMed IDs
epithelial recurrent erosion dystrophy
  • dystrophia helsinglandica
- elite association - COSMIC cancer census association via MalaCards

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 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 3 4 64
  2. Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED). (PMID: 25676728) Jonsson F. … Golovleva I. (Hum. Mutat. 2015) 4 64
  3. 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) 3 64
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3 64
  5. 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) 3 64

Products for CFAP43 Gene

Sources for CFAP43 Gene

Content
Loading form....