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

Gene ID: 54777, updated on 6-Nov-2022

Summary

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, Apr 2022]
Expression
Biased expression in testis (RPKM 5.8), stomach (RPKM 0.9) and 3 other tissues See more
Orthologs
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Genomic context

See CFAP46 in Genome Data Viewer
Location:
10q26.3
Exon count:
65
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (132808392..132942570, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (133757635..133892019, complement)
105.20220307 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 inositol polyphosphate-5-phosphatase A Neighboring gene VISTA enhancer hs1763 Neighboring gene NK6 homeobox 2 Neighboring gene uncharacterized LOC105378571 Neighboring gene uncharacterized LOC105378572 Neighboring gene long intergenic non-protein coding RNA 1166 Neighboring gene long intergenic non-protein coding RNA 1167

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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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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_001200049.3NP_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
    Q8IYW2, Q9NTQ5
    Related
    ENSP00000357575.4, ENST00000368586.10

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047425387.1XP_047281343.1  cilia- and flagella-associated protein 46 isoform X2

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

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

    Related
    ENSP00000491877.2, ENST00000639072.2
  4. XM_047425386.1XP_047281342.1  cilia- and flagella-associated protein 46 isoform X1

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

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

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

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

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

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

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

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

  13. XM_047425398.1XP_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)

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.