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Cfap418 cilia and flagella associated protein 418 [ Mus musculus (house mouse) ]

Gene ID: 67157, updated on 5-Mar-2024

Summary

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Official Symbol
Cfap418provided by MGI
Official Full Name
cilia and flagella associated protein 418provided by MGI
Primary source
MGI:MGI:1914407
See related
Ensembl:ENSMUSG00000059482 AllianceGenome:MGI:1914407
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
2610301B20Rik
Summary
Involved in photoreceptor cell morphogenesis. Located in cytoplasm and photoreceptor inner segment. Used to study cone-rod dystrophy 16 and retinitis pigmentosa. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 21 and cone-rod dystrophy 16. Orthologous to human CFAP418 (cilia and flagella associated protein 418). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 15.2), frontal lobe adult (RPKM 10.8) and 23 other tissues See more
Orthologs
human all
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Genomic context

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Location:
4 A1; 4 4.85 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (10874249..10899425)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (10874044..10899425)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene karyopherin (importin) alpha 2 pseudogene Neighboring gene nuclear encoded tRNA serine 9 (anticodon AGA) Neighboring gene STARR-seq mESC enhancer starr_09561 Neighboring gene STARR-seq mESC enhancer starr_09566 Neighboring gene STARR-seq mESC enhancer starr_09569 Neighboring gene predicted gene, 54234 Neighboring gene ribosomal protein S11, pseudogene 3

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. C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis. Sharif AS, et al. J Neurosci, 2018 Mar 28. PMID 29440555, Free PMC Article
  2. The Wheels mutation in the mouse causes vascular, hindbrain, and inner ear defects. Alavizadeh A, et al. Dev Biol, 2001 Jun 1. PMID 11356033
  3. Functional consequences of necdin nucleocytoplasmic localization. Lavi-Itzkovitz A, et al. PLoS One, 2012. PMID 22442722, Free PMC Article
  4. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Collin GB, et al. Cells, 2020 Apr 10. PMID 32290105, Free PMC Article
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

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 photoreceptor cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell junction ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary base ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
 PubMed 
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 418
Names
protein C8orf37 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_026005.3 → NP_080281.3  cilia- and flagella-associated protein 418

    See identical proteins and their annotated locations for NP_080281.3

    Status: VALIDATED

    Source sequence(s)
    AI840411, AK003887, BM948390, CX220600
    Consensus CDS
    CCDS17961.1
    UniProtKB/Swiss-Prot
    Q3UJP5, Q6PDD5
    UniProtKB/TrEMBL
    B1AV75
    Related
    ENSMUSP00000079361.8, ENSMUST00000080517.14
    Conserved Domains (1) summary
    pfam14996
    Location:64 → 209
    RMP; Retinal Maintenance

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_000070.7 Reference GRCm39 C57BL/6J

    Range
    10874249..10899425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006538200.5 → XP_006538263.1  cilia- and flagella-associated protein 418 isoform X1

    Conserved Domains (1) summary
    pfam14996
    Location:53 → 135
    RMP; Retinal Maintenance
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UJP5.1 GenPept UniProtKB/Swiss-Prot:Q3UJP5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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