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

Gene ID: 343099, updated on 5-Jul-2020

Summary

Official Symbol
CCDC18provided by HGNC
Official Full Name
coiled-coil domain containing 18provided by HGNC
Primary source
HGNC:HGNC:30370
See related
Ensembl:ENSG00000122483
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

Genomic context

See CCDC18 in Genome Data Viewer
Location:
1p22.1
Exon count:
36
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (93179802..93279037)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93646038..93744769)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 123 Neighboring gene Sharpr-MPRA regulatory region 13810 Neighboring gene metal response element binding transcription factor 2 Neighboring gene transmembrane p24 trafficking protein 5 Neighboring gene ribosomal protein L36a pseudogene 11 Neighboring gene uncharacterized LOC107985521 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene CCDC18 antisense RNA 1 Neighboring gene down-regulator of transcription 1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

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_011539663.2
XP_011539674.2
XP_016856643.1
XP_016856644.1
XP_016856645.1
XP_016856646.1
XP_016856648.1
XP_016856649.1
XP_016856650.1
XP_016856651.1
XP_016856652.1
XP_016856653.1
XP_016856656.1
XP_016856657.1
XP_016856658.1
XP_016856659.1
XP_016856660.1
XP_024302439.1
XP_024302440.1
XP_024302441.1

NCBI Reference Sequences (RefSeq)

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_001306076.1NP_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
    UniProtKB/TrEMBL
    Q6PH87, Q7Z659
    Related
    ENSP00000343377.7, ENST00000343253.11
    Conserved Domains (2) summary
    pfam05483
    Location:4781272
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    COG0419
    Location:162679
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
  2. NM_001378204.1NP_001365133.1  coiled-coil domain-containing protein 18 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC126124, AL139421
  3. NM_206886.4NP_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/Swiss-Prot
    Q5T9S5
    UniProtKB/TrEMBL
    E9PFB9, Q6PH87
    Related
    ENSP00000383808.3, ENST00000401026.7
    Conserved Domains (1) summary
    TIGR02168
    Location:5131286
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    93179802..93279037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001164.2XP_016856653.1  coiled-coil domain-containing protein 18 isoform X10

  2. XM_017001162.2XP_016856651.1  coiled-coil domain-containing protein 18 isoform X10

  3. XM_011541361.3XP_011539663.2  coiled-coil domain-containing protein 18 isoform X5

  4. XM_017001161.2XP_016856650.1  coiled-coil domain-containing protein 18 isoform X9

  5. XM_017001154.2XP_016856643.1  coiled-coil domain-containing protein 18 isoform X1

  6. XM_017001160.2XP_016856649.1  coiled-coil domain-containing protein 18 isoform X8

  7. XM_017001159.2XP_016856648.1  coiled-coil domain-containing protein 18 isoform X7

  8. XM_017001155.2XP_016856644.1  coiled-coil domain-containing protein 18 isoform X2

  9. XM_017001157.2XP_016856646.1  coiled-coil domain-containing protein 18 isoform X4

  10. XM_017001156.2XP_016856645.1  coiled-coil domain-containing protein 18 isoform X3

  11. XM_024446671.1XP_024302439.1  coiled-coil domain-containing protein 18 isoform X11

    Conserved Domains (1) summary
    cl25732
    Location:6311404
    SMC_N; RecF/RecN/SMC N terminal domain
  12. XM_017001169.2XP_016856658.1  coiled-coil domain-containing protein 18 isoform X16

  13. XM_011541372.3XP_011539674.2  coiled-coil domain-containing protein 18 isoform X17

  14. XM_017001167.2XP_016856656.1  coiled-coil domain-containing protein 18 isoform X14

  15. XM_024446672.1XP_024302440.1  coiled-coil domain-containing protein 18 isoform X13

    Conserved Domains (1) summary
    cl25732
    Location:4241197
    SMC_N; RecF/RecN/SMC N terminal domain
  16. XM_024446673.1XP_024302441.1  coiled-coil domain-containing protein 18 isoform X13

    Conserved Domains (1) summary
    cl25732
    Location:4241197
    SMC_N; RecF/RecN/SMC N terminal domain
  17. XM_017001163.2XP_016856652.1  coiled-coil domain-containing protein 18 isoform X10

  18. XM_017001168.2XP_016856657.1  coiled-coil domain-containing protein 18 isoform X15

  19. XM_017001171.2XP_016856660.1  coiled-coil domain-containing protein 18 isoform X18

  20. XM_017001170.2XP_016856659.1  coiled-coil domain-containing protein 18 isoform X18

RNA

  1. XR_001737148.2 RNA Sequence

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