U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    CC2D1A coiled-coil and C2 domain containing 1A [ Homo sapiens (human) ]

    Gene ID: 54862, updated on 3-Dec-2024

    Summary

    Official Symbol
    CC2D1Aprovided by HGNC
    Official Full Name
    coiled-coil and C2 domain containing 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:30237
    See related
    Ensembl:ENSG00000132024 MIM:610055; AllianceGenome:HGNC:30237
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Lgd2; MRT3; TAPE; Aki-1; FREUD-1; Freud-1/Aki1
    Summary
    This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in duodenum (RPKM 16.8), small intestine (RPKM 12.5) and 25 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:
    19p13.12
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13906201..13930879)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14032358..14057039)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14017014..14041692)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nanos C2HC-type zinc finger 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13993737-13994582 Neighboring gene microRNA 181d Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14000391-14000892 Neighboring gene break repair meiotic recombinase recruitment factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10218 Neighboring gene MPRA-validated peak3378 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14046993-14047750 Neighboring gene podocan like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14069830-14070403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14070404-14070976 Neighboring gene DDB1 and CUL4 associated factor 15 Neighboring gene regulatory factor X1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090312-14090838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090839-14091365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14091366-14091891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14093768-14094294 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14096053-14096944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14097836-14098726 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116358-14116886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116887-14117414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14117415-14117942

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human coiled-coil and C2 domain containing 1A (CC2D1A) at amino acid residues 783-784 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20241, FLJ41160

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    coiled-coil and C2 domain-containing protein 1A
    Names
    Akt kinase-interacting protein 1
    FRE under dual repression-binding protein 1
    TBK1-associated protein in endolysosomes
    five prime repressor element under dual repression-binding protein 1
    five repressor element under dual repression-binding protein 1
    lethal (2) giant discs homolog 2
    putative NF-kappa-B-activating protein 023N
    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.

    Genomic

    1. NG_013089.1 RefSeqGene

      Range
      5059..29737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001411138.1NP_001398067.1  coiled-coil and C2 domain-containing protein 1A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC020916
      Consensus CDS
      CCDS92537.1
      Related
      ENSP00000467526.1, ENST00000589606.5
    2. NM_017721.5NP_060191.3  coiled-coil and C2 domain-containing protein 1A isoform 1

      See identical proteins and their annotated locations for NP_060191.3

      Status: REVIEWED

      Source sequence(s)
      BC064981, DB065701
      Consensus CDS
      CCDS42512.1
      UniProtKB/Swiss-Prot
      Q6P1N0, Q7Z435, Q86XV0, Q8NF89, Q9H603, Q9NXI1
      Related
      ENSP00000313601.6, ENST00000318003.11
      Conserved Domains (2) summary
      smart00685
      Location:349407
      DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
      cd08690
      Location:652809
      C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      13906201..13930879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439012.1XP_047294968.1  coiled-coil and C2 domain-containing protein 1A isoform X1

    2. XM_047439014.1XP_047294970.1  coiled-coil and C2 domain-containing protein 1A isoform X2

    3. XM_047439015.1XP_047294971.1  coiled-coil and C2 domain-containing protein 1A isoform X3

    4. XM_047439017.1XP_047294973.1  coiled-coil and C2 domain-containing protein 1A isoform X5

    5. XM_047439016.1XP_047294972.1  coiled-coil and C2 domain-containing protein 1A isoform X4

    6. XM_047439018.1XP_047294974.1  coiled-coil and C2 domain-containing protein 1A isoform X6

    7. XM_047439019.1XP_047294975.1  coiled-coil and C2 domain-containing protein 1A isoform X7

      UniProtKB/TrEMBL
      A0A7P0Z4M5
    8. XM_047439020.1XP_047294976.1  coiled-coil and C2 domain-containing protein 1A isoform X8

      UniProtKB/TrEMBL
      A0A7P0Z4M5
      Related
      ENSP00000506358.1, ENST00000680977.1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p14 PATCHES

      Range
      118042..142720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332691.1XP_054188666.1  coiled-coil and C2 domain-containing protein 1A isoform X1

    2. XM_054332692.1XP_054188667.1  coiled-coil and C2 domain-containing protein 1A isoform X2

    3. XM_054332693.1XP_054188668.1  coiled-coil and C2 domain-containing protein 1A isoform X3

    4. XM_054332695.1XP_054188670.1  coiled-coil and C2 domain-containing protein 1A isoform X5

    5. XM_054332694.1XP_054188669.1  coiled-coil and C2 domain-containing protein 1A isoform X4

    6. XM_054332696.1XP_054188671.1  coiled-coil and C2 domain-containing protein 1A isoform X6

    7. XM_054332697.1XP_054188672.1  coiled-coil and C2 domain-containing protein 1A isoform X7

      UniProtKB/TrEMBL
      A0A7P0Z4M5
    8. XM_054332698.1XP_054188673.1  coiled-coil and C2 domain-containing protein 1A isoform X8

      UniProtKB/TrEMBL
      A0A7P0Z4M5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14032358..14057039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321331.1XP_054177306.1  coiled-coil and C2 domain-containing protein 1A isoform X1

    2. XM_054321332.1XP_054177307.1  coiled-coil and C2 domain-containing protein 1A isoform X2

    3. XM_054321333.1XP_054177308.1  coiled-coil and C2 domain-containing protein 1A isoform X3

    4. XM_054321335.1XP_054177310.1  coiled-coil and C2 domain-containing protein 1A isoform X5

    5. XM_054321334.1XP_054177309.1  coiled-coil and C2 domain-containing protein 1A isoform X4

    6. XM_054321336.1XP_054177311.1  coiled-coil and C2 domain-containing protein 1A isoform X6

    7. XM_054321337.1XP_054177312.1  coiled-coil and C2 domain-containing protein 1A isoform X7

      UniProtKB/TrEMBL
      A0A7P0Z4M5
    8. XM_054321338.1XP_054177313.1  coiled-coil and C2 domain-containing protein 1A isoform X8

      UniProtKB/TrEMBL
      A0A7P0Z4M5