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CFAP43 Gene(Protein Coding)

Cilia And Flagella Associated Protein 43

GCID:
GC10M104129
GIFtS:
36
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
  • SPGF19 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 Spermatogenic Failure 19 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder.

Additional gene information for CFAP43 Gene

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

GeneHancer (GH) Regulatory Elements for CFAP43 Gene

Promoters and enhancers for CFAP43 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
GH10I104231 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 557.5 0.0 -20 1.6 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ZNF143 CFAP43 PDCD11 TAF5 RPEL1 GSTO2 GSTO1
GH10I104115 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 7.6 +112.8 112830 8.3 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B SFR1 PDCD11 ENSG00000260461 MIR936 CFAP43 COL17A1
GH10I103848 Promoter/Enhancer 2.7 EPDnew 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
GH10I104109 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 8 +122.2 122212 1.6 HDAC1 MEIS2 PKNOX1 FOXA2 JUN SIN3A EBF1 FOSL1 PRDM10 FOSL2 SFR1 COL17A1 MIR936 STN1 CFAP43 GSTO1 CFAP58 SLK
GH10I104219 Enhancer 0.6 ENCODE 16.1 +12.0 12049 2.6 MAX ZNF623 RARA TEAD3 POLR2A ZFP36 HNF4G HNF4A MIR609 CFAP43
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP43 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP43 Gene

Genomic Locations for CFAP43 Gene
chr10:104,129,888-104,232,366
(GRCh38/hg38)
Size:
102,479 bases
Orientation:
Minus strand
chr10:105,889,646-105,992,120
(GRCh37/hg19)

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

No Post-translational modifications

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

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

Phenotypes From GWAS Catalog for CFAP43 Gene

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

Animal Model Products

CRISPR 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP43 Gene

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 :

CRISPR Products

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 34 33
  • 99.56 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia WDR96 34 33
  • 86.34 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia WDR96 34 33
  • 85.72 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Wdr96 33
  • 78.07 (n)
mouse
(Mus musculus)
 Mammalia Wdr96 34 33
  • 76.97 (n)
 OneToOne
Cfap43 16
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 59 (a)
 OneToMany
-- 34
  • 52 (a)
 OneToMany
-- 34
  • 49 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia WDR96 34
  • 59 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves WDR96 34 33
  • 58.99 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia WDR96 34
  • 48 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia wdr96 33
  • 58.05 (n)
zebrafish
(Danio rerio)
 Actinopterygii wdr96 34 33
  • 51.89 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003166 33
  • 38.05 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG17687 34
  • 17 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 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 Variation AA Info Type
rs193921081 uncertain-significance, Malignant tumor of prostate 104,185,106(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs373911488 pathogenic, SPERMATOGENIC FAILURE 19 104,167,627(-) A/G/T coding_sequence_variant, intron_variant, stop_gained, synonymous_variant
rs376788209 pathogenic, SPERMATOGENIC FAILURE 19 104,230,656(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs768831533 pathogenic, SPERMATOGENIC FAILURE 19 104,143,452(-) G/A/C/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, stop_gained, synonymous_variant
rs1000000961 -- 104,170,899(-) T/C 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)

Additional Variant Information for CFAP43 Gene

Human Gene Mutation Database (HGMD)
CFAP43
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

(3) MalaCards diseases for CFAP43 Gene - From: HGMD, OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 19
  • spgf19
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
epithelial recurrent erosion dystrophy
  • ered
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP43

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature genetics 2004) 2 3 4 58
  2. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. (PMID: 28552195) Tang S … Zhang F (American journal of human genetics 2017) 3 58
  3. Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). (PMID: 25676728) Jonsson F … Golovleva I (Human mutation 2015) 4 58
  4. 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 (Journal of proteome research 2010) 3 58
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 58

Products for CFAP43 Gene

Sources for CFAP43 Gene

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