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    Cfap410 cilia and flagella associated protein 410 [ Mus musculus (house mouse) ]

    Gene ID: 67884, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap410provided by MGI
    Official Full Name
    cilia and flagella associated protein 410provided by MGI
    Primary source
    MGI:MGI:1915134
    See related
    Ensembl:ENSMUSG00000020284 AllianceGenome:MGI:1915134
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D10Jhu13e; 1810043G02Rik
    Summary
    Acts upstream of or within cilium assembly and smoothened signaling pathway. Located in ciliary basal body and photoreceptor connecting cilium. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in axial spondylometaphyseal dysplasia. Orthologous to human CFAP410 (cilia and flagella associated protein 410). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 18.2), adrenal adult (RPKM 15.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cfap410 in Genome Data Viewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (77814364..77821272)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (77978530..77985438)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel, subfamily M, member 2 Neighboring gene predicted gene, 22871 Neighboring gene predicted gene, 40705 Neighboring gene STARR-seq mESC enhancer starr_27210 Neighboring gene STARR-positive B cell enhancer ABC_E9033 Neighboring gene phosphofructokinase, liver, B-type Neighboring gene STARR-positive B cell enhancer ABC_E5151 Neighboring gene STARR-seq mESC enhancer starr_27212 Neighboring gene STARR-seq mESC enhancer starr_27213 Neighboring gene STARR-seq mESC enhancer starr_27214 Neighboring gene autoimmune regulator Neighboring gene DNA methyltransferase 3-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. Wang Z, et al. PLoS One, 2016. PMID 26974433, Free PMC Article
    2. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons. Zelina P, et al. Acta Neuropathol Commun, 2024 Sep 4. PMID 39227882, Free PMC Article
    3. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Wheway G, et al. Nat Cell Biol, 2015 Aug. PMID 26167768, Free PMC Article
    4. Functional characterization of putative cilia genes by high-content analysis. Lai CK, et al. Mol Biol Cell, 2011 Apr. PMID 21289087, Free PMC Article
    5. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. Dharmat R, et al. J Cell Biol, 2018 Aug 6. PMID 29899041, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
      Title: ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell shape ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 410
    Names
    protein C21orf2 homolog

    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_026431.2 → NP_080707.2  cilia- and flagella-associated protein 410

      See identical proteins and their annotated locations for NP_080707.2

      Status: VALIDATED

      Source sequence(s)
      AK004032, AK075794, AK153233
      Consensus CDS
      CCDS35954.1
      UniProtKB/Swiss-Prot
      Q8C6G1, Q91Z02
      UniProtKB/TrEMBL
      Q3U699
      Related
      ENSMUSP00000101036.4, ENSMUST00000105397.10
      Conserved Domains (4) summary
      sd00035
      Location:42 → 63
      LRR_NTF; leucine-rich repeat [structural motif]
      pfam12799
      Location:40 → 80
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:19 → 74
      LRR_8; Leucine rich repeat
      pfam16708
      Location:112 → 160
      LppA; Lipoprotein confined to pathogenic Mycobacterium

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      77814364..77821272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514008.1 → XP_006514071.1  cilia- and flagella-associated protein 410 isoform X1

      See identical proteins and their annotated locations for XP_006514071.1

      Conserved Domains (3) summary
      sd00035
      Location:42 → 63
      LRR_NTF; leucine-rich repeat [structural motif]
      pfam13855
      Location:19 → 74
      LRR_8; Leucine rich repeat
      pfam14580
      Location:64 → 130
      LRR_9; Leucine-rich repeat

    2. XM_030245240.2 → XP_030101100.1  cilia- and flagella-associated protein 410 isoform X3

      Conserved Domains (2) summary
      sd00035
      Location:4 → 25
      LRR_NTF; leucine-rich repeat [structural motif]
      cd21340
      Location:2 → 92
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    3. XM_036155967.1 → XP_036011860.1  cilia- and flagella-associated protein 410 isoform X3

      Conserved Domains (2) summary
      sd00035
      Location:4 → 25
      LRR_NTF; leucine-rich repeat [structural motif]
      cd21340
      Location:2 → 92
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    4. XM_006514009.3 → XP_006514072.1  cilia- and flagella-associated protein 410 isoform X2

      Conserved Domains (2) summary
      sd00035
      Location:4 → 25
      LRR_NTF; leucine-rich repeat [structural motif]
      cd21340
      Location:2 → 92
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    5. XM_036155966.1 → XP_036011859.1  cilia- and flagella-associated protein 410 isoform X2

      Conserved Domains (2) summary
      sd00035
      Location:4 → 25
      LRR_NTF; leucine-rich repeat [structural motif]
      cd21340
      Location:2 → 92
      PPP1R42; protein phosphatase 1 regulatory subunit 42
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C6G1.1 GenPept UniProtKB/Swiss-Prot:Q8C6G1

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