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Cfap300 cilia and flagella associated protein 300 [ Mus musculus (house mouse) ]

Gene ID: 234912, updated on 26-Sep-2022

Summary

Official Symbol
Cfap300provided by MGI
Official Full Name
cilia and flagella associated protein 300provided by MGI
Primary source
MGI:MGI:3045346
See related
Ensembl:ENSMUSG00000053070 AllianceGenome:MGI:3045346
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
9230110C19Rik
Summary
Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 38. Orthologous to human CFAP300 (cilia and flagella associated protein 300). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 16.9), whole brain E14.5 (RPKM 4.3) and 16 other tissues See more
Orthologs
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Genomic context

See Cfap300 in Genome Data Viewer
Location:
9; 9 A1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (8021673..8042876, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (8021672..8042875, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene baculoviral IAP repeat-containing 3 Neighboring gene yes-associated protein 1 Neighboring gene centrosomal protein 126 Neighboring gene angiopoietin-related protein 5 pseudogene Neighboring gene predicted gene 7495

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)
  • Endonuclease-mediated (2) 

General gene information

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 biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cellular_component ND
No biological Data available
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 300
Names
uncharacterized protein C11orf70 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_001358295.1NP_001345224.1  cilia- and flagella-associated protein 300 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC139885
    Conserved Domains (1) summary
    pfam14926
    Location:14218
    DUF4498; Domain of unknown function (DUF4498)
  2. NM_199017.3NP_950182.1  cilia- and flagella-associated protein 300 isoform 1

    See identical proteins and their annotated locations for NP_950182.1

    Status: VALIDATED

    Source sequence(s)
    AK033793, BB855089, BY786171
    Consensus CDS
    CCDS22813.1
    UniProtKB/Swiss-Prot
    Q8CC70
    UniProtKB/TrEMBL
    Q8CC70
    Related
    ENSMUSP00000063450.2, ENSMUST00000065291.2
    Conserved Domains (1) summary
    pfam14926
    Location:14259
    DUF4498; Domain of unknown function (DUF4498)

RNA

  1. NR_152396.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) is represented as non-coding because it lacks a large portion of the CDS found in variant 1.
    Source sequence(s)
    AK033793, BB855089, BC115525, BY786171
  2. NR_152397.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) is represented as non-coding because it lacks a large portion of the CDS found in variant 1.
    Source sequence(s)
    AK033793, BB855089, BC127165, BY786171

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    8021673..8042876 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006509861.2XP_006509924.1  cilia- and flagella-associated protein 300 isoform X1

    Conserved Domains (1) summary
    pfam14926
    Location:1221
    DUF4498; Domain of unknown function (DUF4498)