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Aliases for CFAP126 Gene

Aliases for CFAP126 Gene

  • Cilia And Flagella Associated Protein 126 2 3
  • 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
  • Protein Flattop 3
  • Flattop 3

External Ids for CFAP126 Gene

Previous 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.

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

Genomic Location for CFAP126 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFAP126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP126 Gene

No data available for Regulatory Elements 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
    Secondary Accessions:

    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

No Post-translational modifications

Other Protein References for CFAP126 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP126 Gene

Domains for CFAP126 Gene

Protein Domains for CFAP126 Gene

ProtoNet:

UniProtKB/Swiss-Prot:

FLTOP_HUMAN
Family:
  • Belongs to the Flattop family.:
    • Q5VTH2
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

MGI mutant phenotypes for CFAP126:
inferred from 1 alleles
GenomeRNAi human phenotypes for CFAP126:
genes like me logo Genes that share phenotypes with CFAP126: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting 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:0005737 cytoplasm IEA --
GO:0016324 apical plasma membrane ISS --
GO:0036064 ciliary basal body ISS --
GO:0072372 primary cilium ISS --
genes like me logo Genes that share ontologies with CFAP126: view

Pathways for CFAP126 Gene

SuperPathways for CFAP126 Gene

No Data Available

Interacting Proteins for CFAP126 Gene

Gene Ontology (GO) - Biological Process for CFAP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044782 cilium organization ISS --
genes like me logo Genes that share ontologies with CFAP126: view

No data available for Pathways by source for CFAP126 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CFAP126 Gene

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

Orthologs for CFAP126 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP126 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf192 36
  • 99.62 (n)
  • 98.87 (a)
C1orf192 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1ORF192 37
  • 69 (a)
OneToOne
C3H1orf192 36
  • 89.8 (n)
  • 87.65 (a)
dog
(Canis familiaris)
Mammalia C1orf192 37
  • 53 (a)
OneToOne
C38H1orf192 36
  • 89.39 (n)
  • 87.5 (a)
mouse
(Mus musculus)
Mammalia 1700009P17Rik 36
  • 84.09 (n)
  • 78.98 (a)
1700009P17Rik 16
1700009P17Rik 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1orf192 37
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562658 36
  • 83.33 (n)
  • 76.7 (a)
lizard
(Anolis carolinensis)
Reptilia C1orf192 37
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C23H1orf192 37
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs4345822 -- 161,367,250(+) TGGGT(C/T)GCACT intron-variant
rs4360541 -- 161,367,231(+) aaatt(C/T)aaaat intron-variant
rs4585997 -- 161,367,248(+) TGTGG(C/G)TCGCA intron-variant
rs10494350 -- 161,367,667(+) TAACC(A/C)AGAGA intron-variant
rs10494351 -- 161,367,719(+) GTAAA(A/G)TATTA intron-variant

Relevant External Links for CFAP126 Gene

HapMap Linkage Disequilibrium report
CFAP126

No data available for Structural Variations from Database of Genomic Variants (DGV) for CFAP126 Gene

Disorders for CFAP126 Gene

No disorders were found for CFAP126 Gene.

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

Publications for CFAP126 Gene

  1. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3 4
  2. Flattop regulates basal body docking and positioning in mono- and multiciliated cells. (PMID: 25296022) Gegg M. … Lickert H. (Elife 2014) 2 3
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4
  4. Identification of genes related to Parkinson's disease using expressed sequence tags. (PMID: 17213182) Kim J.M. … Kim N.S. (DNA Res. 2006) 3
  5. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. (PMID: 22275255) Maeda M.H. … Tsuji S. (Ann. Neurol. 2012) 3

Products for CFAP126 Gene

Sources for CFAP126 Gene

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