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

Gene ID: 58229, updated on 5-Mar-2024

Summary

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. Predicted to be active in cytosol. Orthologous to human EFCC1 (EF-hand and coiled-coil domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 3.0), bladder adult (RPKM 1.5) and 24 other tissues See more
Orthologs
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Genomic context

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

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 (3) 

General protein information

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_001159697.1NP_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:7558
    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_006506438.3XP_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:7559
    CCD48; Coiled-coil domain-containing protein 48
  2. XM_006506440.5XP_006506503.1  EF-hand and coiled-coil domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    pfam15799
    Location:7447
    CCD48; Coiled-coil domain-containing protein 48
  3. XM_017321691.3XP_017177180.1  EF-hand and coiled-coil domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9JJF6
    Conserved Domains (1) summary
    pfam15799
    Location:7558
    CCD48; Coiled-coil domain-containing protein 48
  4. XM_030255521.2XP_030111381.1  EF-hand and coiled-coil domain-containing protein 1 isoform X4

    UniProtKB/TrEMBL
    B9EIH1
    Conserved Domains (1) summary
    pfam15799
    Location:7362
    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.