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    Efcc1 EF hand and coiled-coil domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 58229, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Efcc1provided by MGI
    Official Full Name
    EF hand and coiled-coil domain containing 1provided by MGI
    Primary source
    MGI:MGI:3611451
    See related
    Ensembl:ENSMUSG00000068263 AllianceGenome:MGI:3611451
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ccdc48
    Summary
    Predicted to enable calcium ion binding activity. Orthologous to human EFCC1 (EF-hand and coiled-coil domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 3.0), bladder adult (RPKM 1.5) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Efcc1 in Genome Data Viewer
    Location:
    6 D1; 6 39.02 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (87707577..87739410)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (87730590..87762428)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene aprataxin and PNKP like factor Neighboring gene predicted gene, 44097 Neighboring gene STARR-positive B cell enhancer ABC_E9276 Neighboring gene RIKEN cDNA E230015B07 gene Neighboring gene STARR-positive B cell enhancer ABC_E1067 Neighboring gene cilia and flagella associated protein 92 Neighboring gene STARR-seq mESC enhancer starr_16564 Neighboring gene STARR-positive B cell enhancer ABC_E9277 Neighboring gene predicted gene, 34414 Neighboring gene 60S ribosomal protein L3 related Neighboring gene glycoprotein 9 platelet

    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. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    2. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    3. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, et al. Nature, 2002 Dec 5. PMID 12466851
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    EF-hand and coiled-coil domain-containing protein 1
    Names
    EF-hand domain-containing protein ENSP00000381169 homolog
    coiled-coil domain containing 48
    coiled-coil domain-containing protein 48

    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_001159697.1 → NP_001153169.1  EF-hand and coiled-coil domain-containing protein 1

      See identical proteins and their annotated locations for NP_001153169.1

      Status: PROVISIONAL

      Source sequence(s)
      AC158626
      Consensus CDS
      CCDS51840.1
      UniProtKB/Swiss-Prot
      Q9JJF6
      Related
      ENSMUSP00000138649.2, ENSMUST00000159570.9
      Conserved Domains (1) summary
      pfam15799
      Location:7 → 558
      CCD48; Coiled-coil domain-containing protein 48

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      87707577..87739410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506438.3 → XP_006506501.1  EF-hand and coiled-coil domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MQ84
      Related
      ENSMUSP00000032132.9, ENSMUST00000032132.9
      Conserved Domains (1) summary
      pfam15799
      Location:7 → 559
      CCD48; Coiled-coil domain-containing protein 48

    2. XM_006506440.5 → XP_006506503.1  EF-hand and coiled-coil domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      pfam15799
      Location:7 → 447
      CCD48; Coiled-coil domain-containing protein 48

    3. XM_017321691.3 → XP_017177180.1  EF-hand and coiled-coil domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q9JJF6
      Conserved Domains (1) summary
      pfam15799
      Location:7 → 558
      CCD48; Coiled-coil domain-containing protein 48

    4. XM_030255521.2 → XP_030111381.1  EF-hand and coiled-coil domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      B9EIH1
      Conserved Domains (1) summary
      pfam15799
      Location:7 → 362
      CCD48; Coiled-coil domain-containing protein 48

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021418.2: Suppressed sequence

      Description
      NM_021418.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJF6.2 GenPept UniProtKB/Swiss-Prot:Q9JJF6

    Gene LinkOut

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

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