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

Gene ID: 67157, updated on 9-Dec-2024

Summary

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. Is expressed in cerebral cortex ventricular layer and cortical plate. 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, Dec 2024]
Expression
Broad expression in testis adult (RPKM 15.2), frontal lobe adult (RPKM 10.8) and 23 other tissues See more
Orthologs
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Genomic context

See Cfap418 in Genome Data Viewer
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

Expression

  • 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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
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

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_026005.3NP_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:64209
    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_006538200.5XP_006538263.1  cilia- and flagella-associated protein 418 isoform X1

    Conserved Domains (1) summary
    pfam14996
    Location:53135
    RMP; Retinal Maintenance