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

Gene ID: 285331, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 7.3), endometrium (RPKM 5.1) and 25 other tissues See more
Orthologs
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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: 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?

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)

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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_001012506.5NP_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:377528
    CCDC66; Coiled-coil domain-containing protein 66
  2. NM_001141947.3NP_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:411562
    CCDC66; Coiled-coil domain-containing protein 66
  3. NM_001353147.1NP_001340076.1  coiled-coil domain-containing protein 66 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:411562
    CCDC66; Coiled-coil domain-containing protein 66
  4. NM_001353148.1NP_001340077.1  coiled-coil domain-containing protein 66 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:411556
    CCDC66; Coiled-coil domain-containing protein 66
  5. NM_001353149.1NP_001340078.1  coiled-coil domain-containing protein 66 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:404555
    CCDC66; Coiled-coil domain-containing protein 66
  6. NM_001353150.1NP_001340079.1  coiled-coil domain-containing protein 66 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:388539
    CCDC66; Coiled-coil domain-containing protein 66
  7. NM_001353151.1NP_001340080.1  coiled-coil domain-containing protein 66 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:378529
    CCDC66; Coiled-coil domain-containing protein 66
  8. NM_001353152.1NP_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:377528
    CCDC66; Coiled-coil domain-containing protein 66
  9. NM_001353153.1NP_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:377528
    CCDC66; Coiled-coil domain-containing protein 66
  10. NM_001353154.1NP_001340083.1  coiled-coil domain-containing protein 66 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (2) summary
    pfam15236
    Location:368519
    CCDC66; Coiled-coil domain-containing protein 66
    cl25732
    Location:218511
    SMC_N; RecF/RecN/SMC N terminal domain
  11. NM_001353155.1NP_001340084.1  coiled-coil domain-containing protein 66 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:361512
    CCDC66; Coiled-coil domain-containing protein 66
  12. NM_001353156.1NP_001340085.1  coiled-coil domain-containing protein 66 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:112263
    CCDC66; Coiled-coil domain-containing protein 66
  13. NM_001353158.1NP_001340087.1  coiled-coil domain-containing protein 66 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:69220
    CCDC66; Coiled-coil domain-containing protein 66
  14. NM_001353160.1NP_001340089.1  coiled-coil domain-containing protein 66 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC098478, AC099781, BM874633
    Conserved Domains (1) summary
    pfam15236
    Location:47198
    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_047448017.1XP_047303973.1  coiled-coil domain-containing protein 66 isoform X3

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

  3. XM_011533616.4XP_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:377528
    CCDC66; Coiled-coil domain-containing protein 66
  4. XM_011533615.3XP_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:378529
    CCDC66; Coiled-coil domain-containing protein 66
  5. XM_005265083.5XP_005265140.1  coiled-coil domain-containing protein 66 isoform X5

    Conserved Domains (1) summary
    pfam15236
    Location:368519
    CCDC66; Coiled-coil domain-containing protein 66
  6. XM_005265082.5XP_005265139.1  coiled-coil domain-containing protein 66 isoform X1

    Conserved Domains (1) summary
    pfam15236
    Location:404555
    CCDC66; Coiled-coil domain-containing protein 66
  7. XM_047448019.1XP_047303975.1  coiled-coil domain-containing protein 66 isoform X6

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

    Conserved Domains (1) summary
    pfam15236
    Location:377528
    CCDC66; Coiled-coil domain-containing protein 66
  9. XM_047448021.1XP_047303977.1  coiled-coil domain-containing protein 66 isoform X10

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

    Conserved Domains (1) summary
    pfam15236
    Location:211362
    CCDC66; Coiled-coil domain-containing protein 66
  11. XM_017006239.2XP_016861728.1  coiled-coil domain-containing protein 66 isoform X8

    Conserved Domains (1) summary
    pfam15236
    Location:112263
    CCDC66; Coiled-coil domain-containing protein 66
  12. XM_047448020.1XP_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_054346304.1XP_054202279.1  coiled-coil domain-containing protein 66 isoform X3

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

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

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

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

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

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

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

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

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

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

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

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