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    Cc2d1a coiled-coil and C2 domain containing 1A [ Mus musculus (house mouse) ]

    Gene ID: 212139, updated on 27-Nov-2024

    Summary

    Official Symbol
    Cc2d1aprovided by MGI
    Official Full Name
    coiled-coil and C2 domain containing 1Aprovided by MGI
    Primary source
    MGI:MGI:2384831
    See related
    Ensembl:ENSMUSG00000036686 AllianceGenome:MGI:2384831
    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
    Tape; Freud-1
    Summary
    Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in regulation of postsynapse assembly. Acts upstream of or within several processes, including apical dendrite arborization; negative regulation of transcription by RNA polymerase II; and regulation of respiratory gaseous exchange by nervous system process. Located in cytosol and endosome membrane. Is active in glutamatergic synapse. Is expressed in brain. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 3 and intellectual disability. Orthologous to human CC2D1A (coiled-coil and C2 domain containing 1A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 20.2), CNS E18 (RPKM 19.8) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Cc2d1a in Genome Data Viewer
    Location:
    8 C2; 8 40.32 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (84859457..84874546, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (84132828..84147917, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene regulatory factor X, 1 (influences HLA class II expression) Neighboring gene microRNA 709 Neighboring gene STARR-positive B cell enhancer mm9_chr8:86628640-86628941 Neighboring gene predicted gene, 39210 Neighboring gene DDB1 and CUL4 associated factor 15 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:86650788-86650941 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:86651237-86651346 Neighboring gene podocan-like 1 Neighboring gene break repair meiotic recombinase recruitment factor 1 Neighboring gene nanos C2HC-type zinc finger 3 Neighboring gene microRNA 181d

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (6)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC27560, MGC38983

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    NOT located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in fibrillar center IEA
    Inferred from Electronic Annotation
    more info
     
    located_in fibrillar center ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    coiled-coil and C2 domain-containing protein 1A
    Names
    5-HT1A receptor
    FRE under dual repression-binding protein 1
    five prime repressor element under dual repression-binding protein 1
    five' repressor element under dual repression binding protein 1
    putative NFkB activating protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001381871.1NP_001368800.1  coiled-coil and C2 domain-containing protein 1A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC159266
      UniProtKB/TrEMBL
      E9PX94
      Related
      ENSMUSP00000112556.3, ENSMUST00000117424.9
      Conserved Domains (3) summary
      smart00685
      Location:342400
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:644801
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
      PHA03247
      Location:191481
      PHA03247; large tegument protein UL36; Provisional
    2. NM_001381872.1NP_001368801.1  coiled-coil and C2 domain-containing protein 1A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC159266
      UniProtKB/TrEMBL
      E9PX94
      Conserved Domains (3) summary
      smart00685
      Location:273331
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:576733
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
      pfam05109
      Location:105411
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    3. NM_001381873.1NP_001368802.1  coiled-coil and C2 domain-containing protein 1A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC159266
      UniProtKB/TrEMBL
      E9PX94
      Conserved Domains (3) summary
      smart00685
      Location:310368
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:613770
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
      pfam05109
      Location:142448
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    4. NM_145970.2NP_666082.2  coiled-coil and C2 domain-containing protein 1A isoform 1

      See identical proteins and their annotated locations for NP_666082.2

      Status: VALIDATED

      Source sequence(s)
      AC159266
      Consensus CDS
      CCDS40407.1
      UniProtKB/Swiss-Prot
      Q2MJB5, Q8K1A6, Q8R3Z4
      UniProtKB/TrEMBL
      E9PX94
      Related
      ENSMUSP00000046449.9, ENSMUST00000040383.9
      Conserved Domains (3) summary
      smart00685
      Location:342400
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:645802
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
      pfam07404
      Location:442496
      TEBP_beta; Telomere-binding protein beta subunit (TEBP beta)

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      84859457..84874546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)