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Aliases for CFAP126 Gene

Aliases for CFAP126 Gene

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

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.

Additional gene information for CFAP126 Gene

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

Genomics for CFAP126 Gene

GeneHancer (GH) Regulatory Elements for CFAP126 Gene

Promoters and enhancers for CFAP126 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
GH01I161367 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.8 -0.1 -102 1.5 HDAC1 ELF3 FOXA2 ARID4B SIN3A BMI1 RAD21 YY1 THAP11 MIXL1 CFAP126 SDHC RRM2P2
GH01I161388 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -22.1 -22052 2.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 SDHC USP21 PPOX DUSP12 ATF6 CFAP126 NR1I3 APOA2 TOMM40L DEDD
GH01I161213 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 11.4 +150.7 150719 6.4 PKNOX1 FOXA2 MLX ARID4B DMAP1 IRF4 ZNF48 YY1 ATF7 RUNX3 FCER1G B4GALT3 NDUFS2 CFAP126 MPZ SDHC DEDD TOMM40L NCSTN ADAMTS4
GH01I161209 Enhancer 0.8 ENCODE 11.9 +158.1 158054 0.8 HDGF ELF3 RB1 ARID4B ZNF2 ZNF48 ZBTB40 RAD21 RARA RFX5 NR1I3 CFAP126 SDHC NDUFS2 FCER1G ADAMTS4
GH01I161528 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.4 -163.3 -163277 4.7 PKNOX1 ARNT SIN3A FEZF1 ZNF2 IRF4 YY1 ZNF213 ZNF207 ZNF143 TRG-TCC2-6 TRL-CAG1-6 DUSP12 USP21 FCGR2C FCGR2A PPOX FCRLA FCGR2B HSPA6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP126 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP126 Gene

Genomic Locations for CFAP126 Gene
chr1:161,364,731-161,367,883
(GRCh38/hg38)
Size:
3,153 bases
Orientation:
Minus strand
chr1:161,334,521-161,337,664
(GRCh37/hg19)

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

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

Gene Families for CFAP126 Gene

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

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

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 From GWAS Catalog for CFAP126 Gene

Phenotypes for CFAP126 Gene

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

Animal Model Products

Inhibitory RNA 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}.

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 CFAP126 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 2

Gene Ontology (GO) - Cellular Components for CFAP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005929 cilium ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CFAP126: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0044782 cilium organization IEA,ISS --
genes like me logo Genes that share ontologies with CFAP126: view

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 :

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of CFAP126 Gene:

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

No data available for mRNA differential expression in normal tissues , Protein 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 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
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf192 33
  • 99.62 (n)
C1orf192 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C3H1orf192 33
  • 89.8 (n)
C1ORF192 34
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C38H1orf192 33
  • 89.39 (n)
C1orf192 34
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700009P17Rik 33 34
  • 84.09 (n)
Cfap126 16
rat
(Rattus norvegicus)
Mammalia RGD1562658 33
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf192 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf192 34
  • 53 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C23H1orf192 34
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToOne
Species where no ortholog for CFAP126 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1045975852 uncertain-significance, Pheochromocytoma 161,364,331(-) C/A/T downstream_transcript_variant
rs1048770245 uncertain-significance, Pheochromocytoma 161,364,697(-) G/C/T downstream_transcript_variant
rs115166758 likely-benign, Pheochromocytoma 161,364,544(-) C/T downstream_transcript_variant
rs116668612 benign, Pheochromocytoma 161,364,589(-) A/C downstream_transcript_variant
rs12239492 benign, Pheochromocytoma 161,364,485(-) C/G/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP126 Gene

Variant ID Type Subtype PubMed ID
nsv1010776 CNV gain 25217958

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)

Additional Variant Information for CFAP126 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP126 Gene

Disorders for CFAP126 Gene

Additional Disease Information for CFAP126

No disorders were found for CFAP126 Gene.

No data available for MalaCards , 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 58
  2. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3 4 58
  3. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. (PMID: 22275255) Maeda MH … Tsuji S (Annals of neurology 2012) 3 58
  4. Identification of genes related to Parkinson's disease using expressed sequence tags. (PMID: 17213182) Kim JM … Kim NS (DNA research : an international journal for rapid publication of reports on genes and genomes 2006) 3 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58

Products for CFAP126 Gene

Sources for CFAP126 Gene

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