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    CCDC18 coiled-coil domain containing 18 [ Homo sapiens (human) ]

    Gene ID: 343099, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CCDC18provided by HGNC
    Official Full Name
    coiled-coil domain containing 18provided by HGNC
    Primary source
    HGNC:HGNC:30370
    See related
    Ensembl:ENSG00000122483 AllianceGenome:HGNC:30370
    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
    Also known as
    NY-SAR-41
    Summary
    Located in centriolar satellite. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 2.5), lymph node (RPKM 1.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC18 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (93179913..93278730)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (93021277..93124322)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93646273..93744287)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1325 Neighboring gene Sharpr-MPRA regulatory region 13810 Neighboring gene metal response element binding transcription factor 2 Neighboring gene Sharpr-MPRA regulatory region 11191 Neighboring gene MPRA-validated peak321 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1082 Neighboring gene transmembrane p24 trafficking protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1328 Neighboring gene ribosomal protein L36a pseudogene 11 Neighboring gene uncharacterized LOC107985521 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:93742305-93743272 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene CCDC18 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1329 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:93811059-93811594

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Immunomic analysis of human sarcoma. Lee SY, et al. Proc Natl Acad Sci U S A, 2003 Mar 4. PMID 12601173, Free PMC Article
    2. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article
    3. Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B. Hunter MR, et al. J Mol Biol, 2018 Jul 6. PMID 29778605, Free PMC Article
    4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. Lambert JP, et al. J Proteomics, 2015 Apr 6. PMID 25281560, Free PMC Article
    5. A central chaperone-like role for 14-3-3 proteins in human cells. Segal D, et al. Mol Cell, 2023 Mar 16. PMID 36931259

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 18
    Names
    sarcoma antigen NY-SAR-24
    sarcoma antigen NY-SAR-41
    NP_001293005.1
    NP_001365133.1
    NP_996769.3
    XP_011539663.3
    XP_011539674.3
    XP_016856643.2
    XP_016856644.2
    XP_016856645.2
    XP_016856646.2
    XP_016856648.2
    XP_016856649.2
    XP_016856650.2
    XP_016856651.1
    XP_016856653.1
    XP_016856656.1
    XP_016856658.2
    XP_016856660.1
    XP_047275400.1
    XP_047275405.1
    XP_047275415.1
    XP_047275424.1
    XP_047275432.1
    XP_047275438.1
    XP_047275439.1
    XP_047275444.1
    XP_047275446.1
    XP_047275448.1
    XP_047275449.1
    XP_047275463.1
    XP_047275464.1
    XP_047275466.1
    XP_047275468.1
    XP_047275469.1
    XP_047275470.1
    XP_047275472.1
    XP_047275476.1
    XP_047275481.1
    XP_047275482.1
    XP_047275483.1
    XP_047275484.1
    XP_047275495.1
    XP_054192287.1
    XP_054192288.1
    XP_054192289.1
    XP_054192290.1
    XP_054192291.1
    XP_054192292.1
    XP_054192293.1
    XP_054192294.1
    XP_054192295.1
    XP_054192296.1
    XP_054192297.1
    XP_054192298.1
    XP_054192299.1
    XP_054192300.1
    XP_054192301.1
    XP_054192302.1
    XP_054192303.1
    XP_054192304.1
    XP_054192305.1
    XP_054192306.1
    XP_054192307.1
    XP_054192308.1
    XP_054192309.1
    XP_054192310.1
    XP_054192311.1
    XP_054192312.1
    XP_054192313.1
    XP_054192314.1
    XP_054192315.1
    XP_054192316.1
    XP_054192317.1
    XP_054192318.1
    XP_054192319.1
    XP_054192320.1
    XP_054192321.1
    XP_054192322.1
    XP_054192323.1

    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_001306076.1 → NP_001293005.1  coiled-coil domain-containing protein 18 isoform a

      See identical proteins and their annotated locations for NP_001293005.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). The exon combination of this variant is inferred from partial transcript alignments.
      Source sequence(s)
      AC126124, AK126045, AL139421, BC056667, BM149875, BX099893, BX538286, CA428763, DB345139
      Consensus CDS
      CCDS76180.1
      UniProtKB/Swiss-Prot
      Q5T9S5, Q6ZU17
      UniProtKB/TrEMBL
      J3KP97
      Related
      ENSP00000359299.2, ENST00000370276.6
      Conserved Domains (2) summary
      pfam05483
      Location:478 → 1272
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      COG0419
      Location:162 → 679
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    2. NM_001378204.1 → NP_001365133.1  coiled-coil domain-containing protein 18 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC126124, AL139421
      Consensus CDS
      CCDS91004.1
      UniProtKB/TrEMBL
      A0A8I5KWA2, J3KP97
      Related
      ENSP00000510597.1, ENST00000690025.1
      Conserved Domains (1) summary
      TIGR02168
      Location:513 → 1286
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. NM_206886.4 → NP_996769.3  coiled-coil domain-containing protein 18 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. The exon combination of this variant is inferred from partial transcript alignments.
      Source sequence(s)
      AC126124, AK126045, AL139421, BC056667, BX099893, CA428763
      Consensus CDS
      CCDS41356.2
      UniProtKB/TrEMBL
      E9PFB9, J3KP97
      Related
      ENSP00000383808.3, ENST00000401026.7
      Conserved Domains (1) summary
      TIGR02168
      Location:513 → 1286
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      93179913..93278730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001164.3 → XP_016856653.1  coiled-coil domain-containing protein 18 isoform X1

      UniProtKB/TrEMBL
      J3KP97
      Conserved Domains (1) summary
      TIGR02168
      Location:513 → 1286
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. XM_017001162.3 → XP_016856651.1  coiled-coil domain-containing protein 18 isoform X1

      UniProtKB/TrEMBL
      J3KP97
      Conserved Domains (1) summary
      TIGR02168
      Location:513 → 1286
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. XM_011541361.4 → XP_011539663.3  coiled-coil domain-containing protein 18 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KWA2

    4. XM_017001161.3 → XP_016856650.2  coiled-coil domain-containing protein 18 isoform X13

    5. XM_047419516.1 → XP_047275472.1  coiled-coil domain-containing protein 18 isoform X20

    6. XM_047419507.1 → XP_047275463.1  coiled-coil domain-containing protein 18 isoform X14

    7. XM_047419514.1 → XP_047275470.1  coiled-coil domain-containing protein 18 isoform X19

    8. XM_047419492.1 → XP_047275448.1  coiled-coil domain-containing protein 18 isoform X11

    9. XM_017001154.3 → XP_016856643.2  coiled-coil domain-containing protein 18 isoform X1

    10. XM_017001160.3 → XP_016856649.2  coiled-coil domain-containing protein 18 isoform X8

    11. XM_017001159.3 → XP_016856648.2  coiled-coil domain-containing protein 18 isoform X6

    12. XM_017001155.3 → XP_016856644.2  coiled-coil domain-containing protein 18 isoform X2

    13. XM_047419482.1 → XP_047275438.1  coiled-coil domain-containing protein 18 isoform X9

    14. XM_047419476.1 → XP_047275432.1  coiled-coil domain-containing protein 18 isoform X7

    15. XM_017001157.3 → XP_016856646.2  coiled-coil domain-containing protein 18 isoform X3

    16. XM_047419520.1 → XP_047275476.1  coiled-coil domain-containing protein 18 isoform X21

    17. XM_047419493.1 → XP_047275449.1  coiled-coil domain-containing protein 18 isoform X12

    18. XM_047419449.1 → XP_047275405.1  coiled-coil domain-containing protein 18 isoform X4

    19. XM_017001169.3 → XP_016856658.2  coiled-coil domain-containing protein 18 isoform X25

    20. XM_011541372.4 → XP_011539674.3  coiled-coil domain-containing protein 18 isoform X26

    21. XM_047419539.1 → XP_047275495.1  coiled-coil domain-containing protein 18 isoform X28

    22. XM_047419510.1 → XP_047275466.1  coiled-coil domain-containing protein 18 isoform X16

      UniProtKB/TrEMBL
      E9PFB9

    23. XM_047419526.1 → XP_047275482.1  coiled-coil domain-containing protein 18 isoform X20

    24. XM_047419483.1 → XP_047275439.1  coiled-coil domain-containing protein 18 isoform X10

      UniProtKB/Swiss-Prot
      Q5T9S5, Q6ZU17
      Related
      ENSP00000343377.7, ENST00000343253.11

    25. XM_047419513.1 → XP_047275469.1  coiled-coil domain-containing protein 18 isoform X14

    26. XM_017001156.3 → XP_016856645.2  coiled-coil domain-containing protein 18 isoform X1

    27. XM_047419488.1 → XP_047275444.1  coiled-coil domain-containing protein 18 isoform X6

    28. XM_047419444.1 → XP_047275400.1  coiled-coil domain-containing protein 18 isoform X2

    29. XM_047419490.1 → XP_047275446.1  coiled-coil domain-containing protein 18 isoform X7

    30. XM_047419459.1 → XP_047275415.1  coiled-coil domain-containing protein 18 isoform X3

    31. XM_047419468.1 → XP_047275424.1  coiled-coil domain-containing protein 18 isoform X4

    32. XM_017001167.3 → XP_016856656.1  coiled-coil domain-containing protein 18 isoform X18

      UniProtKB/TrEMBL
      J3KP97

    33. XM_047419508.1 → XP_047275464.1  coiled-coil domain-containing protein 18 isoform X15

    34. XM_047419525.1 → XP_047275481.1  coiled-coil domain-containing protein 18 isoform X22

    35. XM_047419512.1 → XP_047275468.1  coiled-coil domain-containing protein 18 isoform X17

    36. XM_047419527.1 → XP_047275483.1  coiled-coil domain-containing protein 18 isoform X23

    37. XM_047419528.1 → XP_047275484.1  coiled-coil domain-containing protein 18 isoform X24

    38. XM_017001171.3 → XP_016856660.1  coiled-coil domain-containing protein 18 isoform X27

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      93021277..93124322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336332.1 → XP_054192307.1  coiled-coil domain-containing protein 18 isoform X1

    2. XM_054336331.1 → XP_054192306.1  coiled-coil domain-containing protein 18 isoform X1

    3. XM_054336320.1 → XP_054192295.1  coiled-coil domain-containing protein 18 isoform X5

    4. XM_054336330.1 → XP_054192305.1  coiled-coil domain-containing protein 18 isoform X13

    5. XM_054336340.1 → XP_054192315.1  coiled-coil domain-containing protein 18 isoform X20

    6. XM_054336333.1 → XP_054192308.1  coiled-coil domain-containing protein 18 isoform X14

    7. XM_054336339.1 → XP_054192314.1  coiled-coil domain-containing protein 18 isoform X19

    8. XM_054336328.1 → XP_054192303.1  coiled-coil domain-containing protein 18 isoform X11

    9. XM_054336323.1 → XP_054192298.1  coiled-coil domain-containing protein 18 isoform X8

    10. XM_054336324.1 → XP_054192299.1  coiled-coil domain-containing protein 18 isoform X9

    11. XM_054336312.1 → XP_054192287.1  coiled-coil domain-containing protein 18 isoform X1

    12. XM_054336321.1 → XP_054192296.1  coiled-coil domain-containing protein 18 isoform X6

    13. XM_054336313.1 → XP_054192288.1  coiled-coil domain-containing protein 18 isoform X2

    14. XM_054336322.1 → XP_054192297.1  coiled-coil domain-containing protein 18 isoform X7

    15. XM_054336316.1 → XP_054192291.1  coiled-coil domain-containing protein 18 isoform X3

    16. XM_054336329.1 → XP_054192304.1  coiled-coil domain-containing protein 18 isoform X12

    17. XM_054336317.1 → XP_054192292.1  coiled-coil domain-containing protein 18 isoform X4

    18. XM_054336341.1 → XP_054192316.1  coiled-coil domain-containing protein 18 isoform X21

    19. XM_054336346.1 → XP_054192321.1  coiled-coil domain-containing protein 18 isoform X25

    20. XM_054336347.1 → XP_054192322.1  coiled-coil domain-containing protein 18 isoform X26

    21. XM_054336335.1 → XP_054192310.1  coiled-coil domain-containing protein 18 isoform X16

    22. XM_054336343.1 → XP_054192318.1  coiled-coil domain-containing protein 18 isoform X20

    23. XM_054336325.1 → XP_054192300.1  coiled-coil domain-containing protein 18 isoform X10

    24. XM_054336337.1 → XP_054192312.1  coiled-coil domain-containing protein 18 isoform X14

    25. XM_054336314.1 → XP_054192289.1  coiled-coil domain-containing protein 18 isoform X1

    26. XM_054336326.1 → XP_054192301.1  coiled-coil domain-containing protein 18 isoform X6

    27. XM_054336315.1 → XP_054192290.1  coiled-coil domain-containing protein 18 isoform X2

    28. XM_054336327.1 → XP_054192302.1  coiled-coil domain-containing protein 18 isoform X7

    29. XM_054336318.1 → XP_054192293.1  coiled-coil domain-containing protein 18 isoform X3

    30. XM_054336319.1 → XP_054192294.1  coiled-coil domain-containing protein 18 isoform X4

    31. XM_054336338.1 → XP_054192313.1  coiled-coil domain-containing protein 18 isoform X18

    32. XM_054336344.1 → XP_054192319.1  coiled-coil domain-containing protein 18 isoform X23

    33. XM_054336334.1 → XP_054192309.1  coiled-coil domain-containing protein 18 isoform X15

    34. XM_054336342.1 → XP_054192317.1  coiled-coil domain-containing protein 18 isoform X22

    35. XM_054336336.1 → XP_054192311.1  coiled-coil domain-containing protein 18 isoform X17

    36. XM_054336345.1 → XP_054192320.1  coiled-coil domain-containing protein 18 isoform X24

    37. XM_054336348.1 → XP_054192323.1  coiled-coil domain-containing protein 18 isoform X27

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T9S5.1 GenPept UniProtKB/Swiss-Prot:Q5T9S5

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