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Aliases for CFAP126 Gene

Aliases for CFAP126 Gene

  • Cilia And Flagella Associated Protein 126 2 3 5
  • Cilia- And Flagella-Associated Protein 126 3 4
  • C1orf192 3 4
  • Fltp 3 4
  • Chromosome 1 Open Reading Frame 192 2
  • UPF0740 Protein C1orf192 3
  • Flattop 3

External Ids for CFAP126 Gene

Previous HGNC Symbols for CFAP126 Gene

  • C1orf192

Summaries for CFAP126 Gene

GeneCards Summary for CFAP126 Gene

CFAP126 (Cilia And Flagella Associated Protein 126) is a Protein Coding gene. Diseases associated with CFAP126 include charcot-marie-tooth disease.

UniProtKB/Swiss-Prot for CFAP126 Gene

  • Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP126 Gene

Genomics for CFAP126 Gene

Regulatory Elements for CFAP126 Gene

Enhancers for CFAP126 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CFAP126 on UCSC Golden Path with GeneCards custom track

Genomic Location for CFAP126 Gene

Chromosome:
1
Start:
161,364,731 bp from pter
End:
161,367,883 bp from pter
Size:
3,153 bases
Orientation:
Minus strand

Genomic View for CFAP126 Gene

Genes around CFAP126 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP126 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP126 Gene

Proteins for CFAP126 Gene

  • Protein details for CFAP126 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VTH2-FLTOP_HUMAN
    Recommended name:
    Protein Flattop
    Protein Accession:
    Q5VTH2

    Protein attributes for CFAP126 Gene

    Size:
    177 amino acids
    Molecular mass:
    19293 Da
    Quaternary structure:
    • Interacts with DLG3.

neXtProt entry for CFAP126 Gene

Proteomics data for CFAP126 Gene at MOPED

Post-translational modifications for CFAP126 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP126 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP126 Gene

Domains & Families for CFAP126 Gene

Protein Domains for CFAP126 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CFAP126 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VTH2

UniProtKB/Swiss-Prot:

FLTOP_HUMAN :
  • Belongs to the Flattop family.
Family:
  • Belongs to the Flattop family.
genes like me logo Genes that share domains with CFAP126: view

No data available for Gene Families for CFAP126 Gene

Function for CFAP126 Gene

Molecular function for CFAP126 Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear.

Phenotypes for CFAP126 Gene

genes like me logo Genes that share phenotypes with CFAP126: view

Animal Model 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 CFAP126 Gene

Localization for CFAP126 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP126 Gene

Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Apical cell membrane. Note=Localizes to the apical cell membrane, the basal body and the primary cilium in monociliated node cells. {ECO:0000250 UniProtKB:Q6P8X9}.

Gene Ontology (GO) - Cellular Components for CFAP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane IEA,ISS --
GO:0036064 ciliary basal body IEA,ISS --
genes like me logo Genes that share ontologies with CFAP126: view

No data available for Subcellular locations from COMPARTMENTS for CFAP126 Gene

Pathways & Interactions for CFAP126 Gene

SuperPathways for CFAP126 Gene

No Data Available

Interacting Proteins for CFAP126 Gene

Gene Ontology (GO) - Biological Process for CFAP126 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP126 Gene

Drugs & Compounds for CFAP126 Gene

No Compound Related Data Available

Transcripts for CFAP126 Gene

mRNA/cDNA for CFAP126 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP126 Gene

No ASD Table

Relevant External Links for CFAP126 Gene

GeneLoc Exon Structure for
CFAP126
ECgene alternative splicing isoforms for
CFAP126

Expression for CFAP126 Gene

mRNA expression in normal human tissues for CFAP126 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP126 Gene



genes like me logo Genes that share expression patterns with CFAP126: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CFAP126 Gene

Orthologs for CFAP126 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP126 Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia RGD1562658 35
  • 83.33 (n)
  • 76.7 (a)
mouse
(Mus musculus)
Mammalia Cfap126 16
1700009P17Rik 36
  • 73 (a)
OneToOne
1700009P17Rik 35
  • 84.09 (n)
  • 78.98 (a)
oppossum
(Monodelphis domestica)
Mammalia C1orf192 36
  • 42 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf192 36
  • 53 (a)
OneToOne
C38H1orf192 35
  • 89.39 (n)
  • 87.5 (a)
cow
(Bos Taurus)
Mammalia C1ORF192 36
  • 69 (a)
OneToOne
C3H1orf192 35
  • 89.8 (n)
  • 87.65 (a)
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf192 35
  • 99.62 (n)
  • 98.87 (a)
C1orf192 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf192 36
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C23H1orf192 36
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for CFAP126:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFAP126 Gene

ENSEMBL:
Gene Tree for CFAP126 (if available)
TreeFam:
Gene Tree for CFAP126 (if available)

Paralogs for CFAP126 Gene

No data available for Paralogs for CFAP126 Gene

Variants for CFAP126 Gene

Sequence variations from dbSNP and Humsavar for CFAP126 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs4360541 -- 161,367,231(+) aaatt(C/T)aaaat intron-variant
rs4585997 -- 161,367,248(+) TGTGG(C/G)TCGCA intron-variant
rs4345822 -- 161,367,250(+) TGGGT(C/T)GCACT intron-variant
rs10494350 -- 161,367,667(+) TAACC(A/C)AGAGA intron-variant
rs10494351 -- 161,367,719(+) GTAAA(A/G)TATTA intron-variant

Variation tolerance for CFAP126 Gene

Residual Variation Intolerance Score: 71.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP126 Gene

HapMap Linkage Disequilibrium report
CFAP126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP126 Gene

Disorders for CFAP126 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFAP126 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • dejerine-sottas disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CFAP126

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP126
genes like me logo Genes that share disorders with CFAP126: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP126 Gene

Publications for CFAP126 Gene

  1. Flattop regulates basal body docking and positioning in mono- and multiciliated cells. (PMID: 25296022) Gegg M. … Lickert H. (Elife 2014) 2 3 67
  2. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. (PMID: 22275255) Maeda M.H. … Tsuji S. (Ann. Neurol. 2012) 3
  3. Identification of genes related to Parkinson's disease using expressed sequence tags. (PMID: 17213182) Kim J.M. … Kim N.S. (DNA Res. 2006) 3
  4. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3

Products for CFAP126 Gene

Sources for CFAP126 Gene

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