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    CFAP46 cilia and flagella associated protein 46 [ Homo sapiens (human) ]

    Gene ID: 54777, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CFAP46provided by HGNC
    Official Full Name
    cilia and flagella associated protein 46provided by HGNC
    Primary source
    HGNC:HGNC:25247
    See related
    Ensembl:ENSG00000171811 MIM:618543; AllianceGenome:HGNC:25247
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TTC40; C10orf92; C10orf93; C10orf123; C10orf124; bA288G11.4; bA288G11.5; bB137A17.2; bB137A17.3
    Summary
    Predicted to be involved in axoneme assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 5.8), stomach (RPKM 0.9) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP46 in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (132808392..132942570, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (133757635..133892019, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (134621896..134756074, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134329666-134330173 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134330174-134330682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134330683-134331190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134331699-134332206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134341290-134341790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134354248-134354782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134354783-134355317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134358889-134359475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134359476-134360063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134363612-134364354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134364355-134365095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134368819-134369319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4229 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134383840-134384610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134386150-134386918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134385380-134386149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134386919-134387688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134387689-134388458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134388459-134389228 Neighboring gene inositol polyphosphate-5-phosphatase A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134389229-134389997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134421607-134422108 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:134435556-134436755 Neighboring gene VISTA enhancer hs1763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134447817-134448326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134457392-134457911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134457912-134458430 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:134479264-134480463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134500796-134501540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134523253-134523753 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134547759-134547916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134548289-134548940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134557071-134557606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:134559215-134559750 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134558117-134558298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134562014-134562722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134562723-134563429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134602203-134602997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134605509-134606010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134618799-134619300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134621641-134622614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134630880-134631380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134631381-134631881 Neighboring gene NK6 homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134639797-134640296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134649804-134650334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134650335-134650865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134650866-134651395 Neighboring gene uncharacterized LOC105378571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134671704-134672235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134672236-134672766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134675086-134675618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134676151-134676683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134675619-134676150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134676684-134677215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134702122-134702650 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:134705471-134706670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134717884-134718384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134725531-134726338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134726339-134727144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4237 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134751137-134751864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134751865-134752590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134755387-134755970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134755971-134756554 Neighboring gene uncharacterized LOC105378572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134775339-134776234 Neighboring gene long intergenic non-protein coding RNA 1166 Neighboring gene long intergenic non-protein coding RNA 1167

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel methylated gene in nasopharyngeal carcinoma: TTC40. Ayadi W, et al. Biomed Res Int, 2014. PMID 25101295, Free PMC Article
    2. High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. Cappella M, et al. Cell Death Dis, 2018 Jun 28. PMID 29955039, Free PMC Article
    3. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hypermethylation of 5'-TTC40 gene might play a role in nasopharyngeal carcinoma development; nevertheless, other studies are needed.
      Title: Identification of a novel methylated gene in nasopharyngeal carcinoma: TTC40.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ25954, FLJ46273, MGC182003, MGC182011, DKFZp434A1721

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium movement involved in cell motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 46
    Names
    TPR repeat-containing protein C10orf93
    tetratricopeptide repeat domain 40
    tetratricopeptide repeat protein 40

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001200049.3 → NP_001186978.2  cilia- and flagella-associated protein 46

      See identical proteins and their annotated locations for NP_001186978.2

      Status: VALIDATED

      Source sequence(s)
      AL392043, AL691429, BC034223, BM726635, BX376477, CN285826, DN930461, DV080197, DV080198, DV080461, DV080489, DV080629, DV080663, DV080697, DY654537, EL734348
      Consensus CDS
      CCDS58101.1
      UniProtKB/Swiss-Prot
      B1AP44, B7WPK8, Q5JSF7, Q5SR76, Q5SR77, Q86ST2, Q8IYW2, Q8N777, Q9NTQ5
      UniProtKB/TrEMBL
      A0A1W2PQB9
      Related
      ENSP00000357575.4, ENST00000368586.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      132808392..132942570 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425387.1 → XP_047281343.1  cilia- and flagella-associated protein 46 isoform X2

    2. XM_047425388.1 → XP_047281344.1  cilia- and flagella-associated protein 46 isoform X3

    3. XM_047425390.1 → XP_047281346.1  cilia- and flagella-associated protein 46 isoform X5

      Related
      ENSP00000491877.2, ENST00000639072.2

    4. XM_047425386.1 → XP_047281342.1  cilia- and flagella-associated protein 46 isoform X1

    5. XM_047425389.1 → XP_047281345.1  cilia- and flagella-associated protein 46 isoform X4

    6. XM_047425391.1 → XP_047281347.1  cilia- and flagella-associated protein 46 isoform X6

    7. XM_047425392.1 → XP_047281348.1  cilia- and flagella-associated protein 46 isoform X7

    8. XM_047425393.1 → XP_047281349.1  cilia- and flagella-associated protein 46 isoform X8

    9. XM_047425394.1 → XP_047281350.1  cilia- and flagella-associated protein 46 isoform X9

    10. XM_047425395.1 → XP_047281351.1  cilia- and flagella-associated protein 46 isoform X10

    11. XM_047425396.1 → XP_047281352.1  cilia- and flagella-associated protein 46 isoform X11

    12. XM_047425397.1 → XP_047281353.1  cilia- and flagella-associated protein 46 isoform X12

    13. XM_047425398.1 → XP_047281354.1  cilia- and flagella-associated protein 46 isoform X13

    RNA

    1. XR_007061969.1 RNA Sequence

    2. XR_007061970.1 RNA Sequence

    3. XR_007061971.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      133757635..133892019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366149.1 → XP_054222124.1  cilia- and flagella-associated protein 46 isoform X2

    2. XM_054366150.1 → XP_054222125.1  cilia- and flagella-associated protein 46 isoform X3

    3. XM_054366152.1 → XP_054222127.1  cilia- and flagella-associated protein 46 isoform X5

    4. XM_054366148.1 → XP_054222123.1  cilia- and flagella-associated protein 46 isoform X1

    5. XM_054366151.1 → XP_054222126.1  cilia- and flagella-associated protein 46 isoform X4

    6. XM_054366153.1 → XP_054222128.1  cilia- and flagella-associated protein 46 isoform X6

    7. XM_054366154.1 → XP_054222129.1  cilia- and flagella-associated protein 46 isoform X7

    8. XM_054366155.1 → XP_054222130.1  cilia- and flagella-associated protein 46 isoform X8

    9. XM_054366156.1 → XP_054222131.1  cilia- and flagella-associated protein 46 isoform X9

    10. XM_054366157.1 → XP_054222132.1  cilia- and flagella-associated protein 46 isoform X10

    11. XM_054366158.1 → XP_054222133.1  cilia- and flagella-associated protein 46 isoform X11

    12. XM_054366159.1 → XP_054222134.1  cilia- and flagella-associated protein 46 isoform X12

    13. XM_054366160.1 → XP_054222135.1  cilia- and flagella-associated protein 46 isoform X13

    RNA

    1. XR_008488222.1 RNA Sequence

    2. XR_008488223.1 RNA Sequence

    3. XR_008488224.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017609.4: Suppressed sequence

      Description
      NM_017609.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_173572.3: Suppressed sequence

      Description
      NM_173572.3: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYW2.3 GenPept UniProtKB/Swiss-Prot:Q8IYW2

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