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    CCDC66 coiled-coil domain containing 66 [ Homo sapiens (human) ]

    Gene ID: 285331, updated on 10-Dec-2024

    Summary

    Official Symbol
    CCDC66provided by HGNC
    Official Full Name
    coiled-coil domain containing 66provided by HGNC
    Primary source
    HGNC:HGNC:27709
    See related
    Ensembl:ENSG00000180376 MIM:619287; AllianceGenome:HGNC:27709
    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
    Summary
    Enables microtubule binding activity. Involved in cilium assembly; microtubule bundle formation; and regulation of protein localization to cilium. Located in several cellular components, including Flemming body; microtubule cytoskeleton; and photoreceptor inner segment. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.3), endometrium (RPKM 5.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC66 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (56557156..56621837)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (56597679..56662164)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (56591184..56655865)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ELKS/RAB6-interacting/CAST family member 2 Neighboring gene RNA, 5S ribosomal pseudogene 133 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56288084-56288696 Neighboring gene NANOG hESC enhancer GRCh37_chr3:56469501-56470002 Neighboring gene uncharacterized LOC105377099 Neighboring gene Sharpr-MPRA regulatory region 10072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56590646-56591318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:56591319-56591990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:56716124-56717068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14471 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:56796980-56797857 Neighboring gene transcription activation suppressor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14472 Neighboring gene Sharpr-MPRA regulatory region 9253 Neighboring gene Rho guanine nucleotide exchange factor 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:56886037-56887236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14474 Neighboring gene Sharpr-MPRA regulatory region 9226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56949810-56950362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:56950363-56950913 Neighboring gene ARHGEF3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57040522-57041053 Neighboring gene Sharpr-MPRA regulatory region 6639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:57049075-57049840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086410-57086910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57086911-57087411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57097817-57098598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19985 Neighboring gene spermatogenesis associated 12

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686C0433

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of light stimulus involved in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule bundle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retina homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Flemming body IDA
    Inferred from Direct Assay
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT colocalizes_with ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in photoreceptor inner segment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 66

    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_001012506.5 → NP_001012524.4  coiled-coil domain-containing protein 66 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098478, AL833326, BC047509, BC132827, BM874633, BU674751, CU456552, DA017177
      Consensus CDS
      CCDS33770.2
      UniProtKB/Swiss-Prot
      A2RUB6
      Related
      ENSP00000326050.7, ENST00000326595.11
      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66
    2. NM_001141947.3 → NP_001135419.1  coiled-coil domain-containing protein 66 isoform 1

      See identical proteins and their annotated locations for NP_001135419.1

      Status: VALIDATED

      Source sequence(s)
      AC098478, AL833326, BC132827, BM874633, BU674751, CU456552, DA017177
      Consensus CDS
      CCDS46852.1
      UniProtKB/Swiss-Prot
      A2RUB6, B3KWL8, Q4VC34, Q8N949
      Related
      ENSP00000378167.3, ENST00000394672.8
      Conserved Domains (1) summary
      pfam15236
      Location:411 → 562
      CCDC66; Coiled-coil domain-containing protein 66
    3. NM_001353147.1 → NP_001340076.1  coiled-coil domain-containing protein 66 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:411 → 562
      CCDC66; Coiled-coil domain-containing protein 66
    4. NM_001353148.1 → NP_001340077.1  coiled-coil domain-containing protein 66 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:411 → 556
      CCDC66; Coiled-coil domain-containing protein 66
    5. NM_001353149.1 → NP_001340078.1  coiled-coil domain-containing protein 66 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:404 → 555
      CCDC66; Coiled-coil domain-containing protein 66
    6. NM_001353150.1 → NP_001340079.1  coiled-coil domain-containing protein 66 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:388 → 539
      CCDC66; Coiled-coil domain-containing protein 66
    7. NM_001353151.1 → NP_001340080.1  coiled-coil domain-containing protein 66 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:378 → 529
      CCDC66; Coiled-coil domain-containing protein 66
    8. NM_001353152.1 → NP_001340081.1  coiled-coil domain-containing protein 66 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Consensus CDS
      CCDS33770.2
      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66
    9. NM_001353153.1 → NP_001340082.1  coiled-coil domain-containing protein 66 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Consensus CDS
      CCDS33770.2
      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66
    10. NM_001353154.1 → NP_001340083.1  coiled-coil domain-containing protein 66 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (2) summary
      pfam15236
      Location:368 → 519
      CCDC66; Coiled-coil domain-containing protein 66
      cl25732
      Location:218 → 511
      SMC_N; RecF/RecN/SMC N terminal domain
    11. NM_001353155.1 → NP_001340084.1  coiled-coil domain-containing protein 66 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:361 → 512
      CCDC66; Coiled-coil domain-containing protein 66
    12. NM_001353156.1 → NP_001340085.1  coiled-coil domain-containing protein 66 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:112 → 263
      CCDC66; Coiled-coil domain-containing protein 66
    13. NM_001353158.1 → NP_001340087.1  coiled-coil domain-containing protein 66 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:69 → 220
      CCDC66; Coiled-coil domain-containing protein 66
    14. NM_001353160.1 → NP_001340089.1  coiled-coil domain-containing protein 66 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Conserved Domains (1) summary
      pfam15236
      Location:47 → 198
      CCDC66; Coiled-coil domain-containing protein 66

    RNA

    1. NR_024460.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AL832692, AL833326, BC132827, BM874633, BU674751, DA017177
      Related
      ENST00000341455.10
    2. NR_148366.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    3. NR_148367.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    4. NR_148368.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    5. NR_148369.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    6. NR_148370.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
      Related
      ENST00000471681.5
    7. NR_148371.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    8. NR_148372.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    9. NR_148373.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    10. NR_148374.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    11. NR_148375.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    12. NR_148376.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    13. NR_148377.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633
    14. NR_148378.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098478, AC099781, BM874633

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      56557156..56621837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448017.1 → XP_047303973.1  coiled-coil domain-containing protein 66 isoform X3

    2. XM_047448018.1 → XP_047303974.1  coiled-coil domain-containing protein 66 isoform X4

    3. XM_011533616.4 → XP_011531918.1  coiled-coil domain-containing protein 66 isoform X3

      See identical proteins and their annotated locations for XP_011531918.1

      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66
    4. XM_011533615.3 → XP_011531917.1  coiled-coil domain-containing protein 66 isoform X2

      See identical proteins and their annotated locations for XP_011531917.1

      Conserved Domains (1) summary
      pfam15236
      Location:378 → 529
      CCDC66; Coiled-coil domain-containing protein 66
    5. XM_005265083.5 → XP_005265140.1  coiled-coil domain-containing protein 66 isoform X5

      Conserved Domains (1) summary
      pfam15236
      Location:368 → 519
      CCDC66; Coiled-coil domain-containing protein 66
    6. XM_005265082.5 → XP_005265139.1  coiled-coil domain-containing protein 66 isoform X1

      Conserved Domains (1) summary
      pfam15236
      Location:404 → 555
      CCDC66; Coiled-coil domain-containing protein 66
    7. XM_047448019.1 → XP_047303975.1  coiled-coil domain-containing protein 66 isoform X6

    8. XM_024453462.2 → XP_024309230.1  coiled-coil domain-containing protein 66 isoform X3

      Conserved Domains (1) summary
      pfam15236
      Location:377 → 528
      CCDC66; Coiled-coil domain-containing protein 66
    9. XM_047448021.1 → XP_047303977.1  coiled-coil domain-containing protein 66 isoform X10

    10. XM_024453464.2 → XP_024309232.1  coiled-coil domain-containing protein 66 isoform X7

      Conserved Domains (1) summary
      pfam15236
      Location:211 → 362
      CCDC66; Coiled-coil domain-containing protein 66
    11. XM_017006239.2 → XP_016861728.1  coiled-coil domain-containing protein 66 isoform X8

      Conserved Domains (1) summary
      pfam15236
      Location:112 → 263
      CCDC66; Coiled-coil domain-containing protein 66
    12. XM_047448020.1 → XP_047303976.1  coiled-coil domain-containing protein 66 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      56597679..56662164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346304.1 → XP_054202279.1  coiled-coil domain-containing protein 66 isoform X3

    2. XM_054346305.1 → XP_054202280.1  coiled-coil domain-containing protein 66 isoform X4

    3. XM_054346303.1 → XP_054202278.1  coiled-coil domain-containing protein 66 isoform X3

    4. XM_054346302.1 → XP_054202277.1  coiled-coil domain-containing protein 66 isoform X2

    5. XM_054346306.1 → XP_054202281.1  coiled-coil domain-containing protein 66 isoform X12

    6. XM_054346301.1 → XP_054202276.1  coiled-coil domain-containing protein 66 isoform X11

    7. XM_054346307.1 → XP_054202282.1  coiled-coil domain-containing protein 66 isoform X13

    8. XM_054346308.1 → XP_054202283.1  coiled-coil domain-containing protein 66 isoform X3

    9. XM_054346313.1 → XP_054202288.1  coiled-coil domain-containing protein 66 isoform X15

    10. XM_054346309.1 → XP_054202284.1  coiled-coil domain-containing protein 66 isoform X7

    11. XM_054346310.1 → XP_054202285.1  coiled-coil domain-containing protein 66 isoform X8

    12. XM_054346311.1 → XP_054202286.1  coiled-coil domain-containing protein 66 isoform X9

    13. XM_054346312.1 → XP_054202287.1  coiled-coil domain-containing protein 66 isoform X14