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    Cc2d1a coiled-coil and C2 domain containing 1A [ Rattus norvegicus (Norway rat) ]

    Gene ID: 288908, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cc2d1aprovided by RGD
    Official Full Name
    coiled-coil and C2 domain containing 1Aprovided by RGD
    Primary source
    RGD:1306108
    See related
    EnsemblRapid:ENSRNOG00000006747 AllianceGenome:RGD:1306108
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1306108
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of snRNA transcription by RNA polymerase II; positive regulation of canonical NF-kappaB signal transduction; and regulation of postsynapse assembly. Predicted to act 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 nucleus. 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, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 82.3), Lung (RPKM 68.6) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Cc2d1a in Genome Data Viewer
    Location:
    19q11
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 19 NC_086037.1 (40916587..40931702)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 19 NC_051354.1 (24011897..24026937)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 19 NC_005118.4 (25246912..25261965, complement)

    Chromosome 19 - NC_086037.1Genomic Context describing neighboring genes Neighboring gene nanos C2HC-type zinc finger 3 Neighboring gene break repair meiotic recombinase recruitment factor 1 Neighboring gene podocan-like 1 Neighboring gene DDB1 and CUL4 associated factor 15

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in apical dendrite arborization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within apical dendrite arborization ISO
    Inferred from Sequence Orthology
    more info
     
    NOT acts_upstream_of_or_within centrosome cycle ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within dendrite arborization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within endosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of snRNA transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of snRNA transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    NOT acts_upstream_of_or_within regulation of Notch signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of respiratory gaseous exchange ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of respiratory gaseous exchange by nervous system process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of respiratory gaseous exchange by nervous system process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    NOT located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in fibrillar center IEA
    Inferred from Electronic Annotation
    more info
     
    located_in fibrillar center ISO
    Inferred from Sequence Orthology
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    coiled-coil and C2 domain-containing protein 1A
    Names
    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
    freud-1

    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_001013869.2NP_001013891.1  coiled-coil and C2 domain-containing protein 1A isoform 1

      See identical proteins and their annotated locations for NP_001013891.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/TrEMBL
      A6IYA7
      Conserved Domains (2) summary
      smart00685
      Location:296354
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:601755
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
    2. NM_001433990.1NP_001420919.1  coiled-coil and C2 domain-containing protein 1A isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/Swiss-Prot
      Q66HA5
      UniProtKB/TrEMBL
      A6IYA7
    3. NM_001433991.1NP_001420920.1  coiled-coil and C2 domain-containing protein 1A isoform 3

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/TrEMBL
      A0A8L2QP71, A6IYA7
    4. NM_001433992.1NP_001420921.1  coiled-coil and C2 domain-containing protein 1A isoform 4

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/TrEMBL
      A6IYA7

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086037.1 Reference GRCr8

      Range
      40916587..40931702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039097531.2XP_038953459.1  coiled-coil and C2 domain-containing protein 1A isoform X1

      UniProtKB/TrEMBL
      A6IYA7
      Conserved Domains (3) summary
      smart00685
      Location:341399
      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:217486
      PHA03247; large tegument protein UL36; Provisional
    2. XM_006255233.4XP_006255295.1  coiled-coil and C2 domain-containing protein 1A isoform X4

      Related
      ENSRNOP00000045667.4, ENSRNOT00000045180.6
      Conserved Domains (3) summary
      smart00685
      Location:341399
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:647801
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
      pfam07404
      Location:420495
      TEBP_beta; Telomere-binding protein beta subunit (TEBP beta)
    3. XM_039097532.2XP_038953460.1  coiled-coil and C2 domain-containing protein 1A isoform X2

      Conserved Domains (3) summary
      smart00685
      Location:341399
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:643800
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
      PHA03247
      Location:217485
      PHA03247; large tegument protein UL36; Provisional
    4. XM_006255234.4XP_006255296.1  coiled-coil and C2 domain-containing protein 1A isoform X5

      Conserved Domains (2) summary
      smart00685
      Location:341399
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:646800
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
    5. XM_039097533.2XP_038953461.1  coiled-coil and C2 domain-containing protein 1A isoform X3

      UniProtKB/TrEMBL
      A6IYA7
      Conserved Domains (3) summary
      smart00685
      Location:309367
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:612769
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
      PHA03247
      Location:185454
      PHA03247; large tegument protein UL36; Provisional