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    Cacfd1 calcium channel flower domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 381356, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cacfd1provided by MGI
    Official Full Name
    calcium channel flower domain containing 1provided by MGI
    Primary source
    MGI:MGI:1924317
    See related
    Ensembl:ENSMUSG00000015488 AllianceGenome:MGI:1924317
    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
    mFwe; 5930434B04Rik
    Summary
    Predicted to be involved in vesicle-mediated transport. Predicted to be located in plasma membrane and vesicle. Orthologous to human CACFD1 (calcium channel flower domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 21.6), ovary adult (RPKM 16.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cacfd1 in Genome Data Viewer
    Location:
    2 A3; 2 19.17 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (26899867..26911102)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (27009855..27021090)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene REX4, 3'-5' exonuclease Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:26819876-26820059 Neighboring gene predicted gene, 36649 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 13 Neighboring gene STARR-positive B cell enhancer ABC_E7799 Neighboring gene STARR-positive B cell enhancer ABC_E5901 Neighboring gene STARR-positive B cell enhancer ABC_E7800 Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 6 Neighboring gene STARR-seq mESC enhancer starr_03998 Neighboring gene ribosomal protein L6 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Flower-deficient mice have reduced susceptibility to skin papilloma formation. Petrova E, et al. Dis Model Mech, 2012 Jul. PMID 22362363, Free PMC Article
    2. Cytotoxic granule endocytosis depends on the Flower protein. Chang HF, et al. J Cell Biol, 2018 Feb 5. PMID 29288152, Free PMC Article
    3. Compromised cell competition exhausts neural stem cells pool. Li C, et al. Cell Prolif, 2024 Dec. PMID 39010274, Free PMC Article
    4. In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Gineste C, et al. Neuromuscul Disord, 2013 Apr. PMID 23375831
    5. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862

    See all (17) 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)
    • Endonuclease-mediated (2) 
    • Targeted (6)  1 citation

    General gene information

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    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 vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    calcium channel flower homolog
    Names
    calcium channel flower domain-containing protein 1
    likely ortholog of H. sapiens chromosome 9 open reading frame 7 (C9orf7)

    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_001243239.1 → NP_001230168.1  calcium channel flower homolog isoform 2

      See identical proteins and their annotated locations for NP_001230168.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and uses an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AK020041, AL845266
      Consensus CDS
      CCDS57160.1
      Related
      ENSMUSP00000109638.3, ENSMUST00000114005.9
      Conserved Domains (1) summary
      cl10918
      Location:34 → 106
      Cg6151-P; Uncharacterized conserved protein CG6151-P

    2. NM_001243240.1 → NP_001230169.1  calcium channel flower homolog isoform 3

      See identical proteins and their annotated locations for NP_001230169.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons and uses an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK034046, AK038728, AL845266, BB262857, BB345271
      Consensus CDS
      CCDS57161.1
      Related
      ENSMUSP00000109637.2, ENSMUST00000114004.8
      Conserved Domains (1) summary
      cl10918
      Location:34 → 106
      Cg6151-P; Uncharacterized conserved protein CG6151-P

    3. NM_029862.4 → NP_084138.1  calcium channel flower homolog isoform 1

      See identical proteins and their annotated locations for NP_084138.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK052562, AL845266
      Consensus CDS
      CCDS38086.1
      UniProtKB/Swiss-Prot
      A2AR22, A2AR23, A6PWX1, Q8BG21, Q8C9W0, Q8CC30, Q9CX69
      Related
      ENSMUSP00000109639.2, ENSMUST00000114006.8
      Conserved Domains (1) summary
      smart01077
      Location:34 → 142
      Cg6151-P; Uncharacterized conserved protein CG6151-P

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      26899867..26911102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498159.4 → XP_006498222.1  calcium channel flower homolog isoform X1

      Conserved Domains (1) summary
      cl10918
      Location:34 → 100
      Cg6151-P; Uncharacterized conserved protein CG6151-P
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BG21.1 GenPept UniProtKB/Swiss-Prot:Q8BG21

    Gene LinkOut

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

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