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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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