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

Gene ID: 343099, updated on 3-Apr-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
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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Location:
1p22.1
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (93179913..93278730)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (93021277..93124322)
105.20220307 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
  • 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 (17) 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_2023_10

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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