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    EFCC1 EF-hand and coiled-coil domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79825, updated on 17-Jun-2019

    Summary

    Official Symbol
    EFCC1provided by HGNC
    Official Full Name
    EF-hand and coiled-coil domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25692
    See related
    Ensembl:ENSG00000114654
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCDC48; C3orf73
    Expression
    Broad expression in lung (RPKM 5.0), ovary (RPKM 2.3) and 19 other tissues See more
    Orthologs

    Genomic context

    See EFCC1 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (129001545..129040742)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128720131..128759585)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 122 homolog (Chlamydomonas) pseudogene Neighboring gene acyl-CoA dehydrogenase family member 9 Neighboring gene KIAA1257 Neighboring gene jumonji domain containing 4 pseudogene Neighboring gene glycoprotein IX platelet

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of coiled-coil domain containing 48 (CCDC48) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12053, FLJ12057, MGC138400, DKFZp686B0148

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_024768.2NP_079044.2  EF-hand and coiled-coil domain-containing protein 1

      See identical proteins and their annotated locations for NP_079044.2

      Status: VALIDATED

      Source sequence(s)
      AC108673, AC112484, BC093800
      Consensus CDS
      CCDS3054.2
      UniProtKB/Swiss-Prot
      Q9HA90
      Related
      ENSP00000414597.3, ENST00000436022.2
      Conserved Domains (1) summary
      pfam15799
      Location:18598
      CCD48; Coiled-coil domain-containing protein 48

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      129001545..129040742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247781.4XP_005247838.1  EF-hand and coiled-coil domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam15799
      Location:18599
      CCD48; Coiled-coil domain-containing protein 48
    2. XM_011513163.3XP_011511465.1  EF-hand and coiled-coil domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      pfam15799
      Location:18326
      CCD48; Coiled-coil domain-containing protein 48
    3. XM_011513161.2XP_011511463.1  EF-hand and coiled-coil domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      pfam15799
      Location:3370
      CCD48; Coiled-coil domain-containing protein 48
    4. XM_011513164.2XP_011511466.1  EF-hand and coiled-coil domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      pfam15799
      Location:31303
      CCD48; Coiled-coil domain-containing protein 48

    RNA

    1. XR_001740270.2 RNA Sequence

    2. XR_924178.3 RNA Sequence

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