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CCDC138 coiled-coil domain containing 138 [ Homo sapiens (human) ]

Gene ID: 165055, updated on 7-Apr-2024

Summary

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Official Symbol
CCDC138provided by HGNC
Official Full Name
coiled-coil domain containing 138provided by HGNC
Primary source
HGNC:HGNC:26531
See related
Ensembl:ENSG00000163006 AllianceGenome:HGNC:26531
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
Expression
Broad expression in testis (RPKM 1.8), lymph node (RPKM 0.7) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
2q13
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (108786750..108885485)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (109247356..109346048)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109403206..109501941)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109334881-109335811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109335812-109336741 Neighboring gene NANOG hESC enhancer GRCh37_chr2:109343044-109343584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11852 Neighboring gene ribosomal protein L10 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109407142-109407316 Neighboring gene RAN binding protein 2 Neighboring gene MPRA-validated peak3811 silencer Neighboring gene MPRA-validated peak3812 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109526299-109526800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109545693-109546192 Neighboring gene ribosomal protein L39 pseudogene 16 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109588237-109589436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109589833-109590332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109604149-109604650 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:109636621-109637336 Neighboring gene ectodysplasin A receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109663535-109664035 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109685726-109686670 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109705183-109705390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:109719016-109719749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11857 Neighboring gene SH3RF3 antisense RNA 1 Neighboring gene SH3 domain containing ring finger 3

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. Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. Drew K, et al. Mol Syst Biol, 2017 Jun 8. PMID 28596423, Free PMC Article
  2. Decoding the fine-scale structure of a breast cancer genome and transcriptome. Volik S, et al. Genome Res, 2006 Mar. PMID 16461635, Free PMC Article
  3. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article
  4. Proximity interactions among centrosome components identify regulators of centriole duplication. Firat-Karalar EN, et al. Curr Biol, 2014 Mar 17. PMID 24613305, Free PMC Article
  5. 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

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Clone Names

  • FLJ32745

General protein information

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Preferred Names
coiled-coil domain-containing protein 138

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_001303105.2 → NP_001290034.1  coiled-coil domain-containing protein 138 isoform 2

    See identical proteins and their annotated locations for NP_001290034.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC010095, AC073415
    Consensus CDS
    CCDS77447.1
    UniProtKB/Swiss-Prot
    Q96M89
    Related
    ENSP00000411800.2, ENST00000412964.6
    Conserved Domains (2) summary
    pfam12718
    Location:213 → 320
    Tropomyosin_1; Tropomyosin like
    cl19511
    Location:212 → 315
    DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

  2. NM_001303106.2 → NP_001290035.1  coiled-coil domain-containing protein 138 isoform 3

    See identical proteins and their annotated locations for NP_001290035.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR which results in the use of a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to variant 1. Variants 3 and 16 both encode the same isoform (3).
    Source sequence(s)
    AC010095, AC073415

  3. NM_001351544.2 → NP_001338473.1  coiled-coil domain-containing protein 138 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) encodes the longest isoform (4).
    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (1) summary
    cl25732
    Location:169 → 346
    SMC_N; RecF/RecN/SMC N terminal domain

  4. NM_001351545.1 → NP_001338474.1  coiled-coil domain-containing protein 138 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415, BG216415, BQ007723
    Conserved Domains (1) summary
    cl25732
    Location:158 → 335
    SMC_N; RecF/RecN/SMC N terminal domain

  5. NM_001351548.1 → NP_001338477.1  coiled-coil domain-containing protein 138 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415, BG216415, BQ007723
    Conserved Domains (1) summary
    cl25732
    Location:121 → 298
    SMC_N; RecF/RecN/SMC N terminal domain

  6. NM_001351549.2 → NP_001338478.1  coiled-coil domain-containing protein 138 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (1) summary
    cl25732
    Location:163 → 340
    SMC_N; RecF/RecN/SMC N terminal domain

  7. NM_001351551.2 → NP_001338480.1  coiled-coil domain-containing protein 138 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (1) summary
    cl25732
    Location:164 → 320
    SMC_N; RecF/RecN/SMC N terminal domain

  8. NM_001351553.2 → NP_001338482.1  coiled-coil domain-containing protein 138 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (1) summary
    cl25732
    Location:169 → 346
    SMC_N; RecF/RecN/SMC N terminal domain

  9. NM_001351554.2 → NP_001338483.1  coiled-coil domain-containing protein 138 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (1) summary
    cl25732
    Location:170 → 326
    SMC_N; RecF/RecN/SMC N terminal domain

  10. NM_001351555.2 → NP_001338484.1  coiled-coil domain-containing protein 138 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (1) summary
    cl25732
    Location:164 → 320
    SMC_N; RecF/RecN/SMC N terminal domain

  11. NM_001351557.1 → NP_001338486.1  coiled-coil domain-containing protein 138 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (2) summary
    cl19252
    Location:208 → 464
    MreC; rod shape-determining protein MreC
    cl25732
    Location:158 → 335
    SMC_N; RecF/RecN/SMC N terminal domain

  12. NM_001351559.2 → NP_001338488.1  coiled-coil domain-containing protein 138 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415
    Conserved Domains (1) summary
    cl25732
    Location:163 → 340
    SMC_N; RecF/RecN/SMC N terminal domain

  13. NM_001351561.1 → NP_001338490.1  coiled-coil domain-containing protein 138 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415, BG216415, BQ007723
    Conserved Domains (1) summary
    cl25732
    Location:158 → 335
    SMC_N; RecF/RecN/SMC N terminal domain

  14. NM_001351565.2 → NP_001338494.1  coiled-coil domain-containing protein 138 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variant 3, encodes isoform 3.
    Source sequence(s)
    AC010095, AC073415

  15. NM_144978.3 → NP_659415.1  coiled-coil domain-containing protein 138 isoform 1

    See identical proteins and their annotated locations for NP_659415.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC010095, AC073415
    Consensus CDS
    CCDS2080.1
    UniProtKB/Swiss-Prot
    Q05DF1, Q4ZG07, Q53TE1, Q6ZUY5, Q86VL7, Q96M89
    Related
    ENSP00000295124.4, ENST00000295124.9
    Conserved Domains (2) summary
    pfam12718
    Location:213 → 320
    Tropomyosin_1; Tropomyosin like
    cl19511
    Location:212 → 315
    DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

RNA

  1. NR_130121.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC010095, AC073415
    Related
    ENST00000409529.6

  2. NR_147236.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415

  3. NR_147237.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415

  4. NR_147238.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010095, AC073415

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    108786750..108885485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443558.1 → XP_047299514.1  coiled-coil domain-containing protein 138 isoform X23

  2. XM_047443542.1 → XP_047299498.1  coiled-coil domain-containing protein 138 isoform X6

  3. XM_047443553.1 → XP_047299509.1  coiled-coil domain-containing protein 138 isoform X18

  4. XM_017003492.2 → XP_016858981.1  coiled-coil domain-containing protein 138 isoform X2

  5. XM_047443559.1 → XP_047299515.1  coiled-coil domain-containing protein 138 isoform X24

  6. XM_047443543.1 → XP_047299499.1  coiled-coil domain-containing protein 138 isoform X7

  7. XM_047443554.1 → XP_047299510.1  coiled-coil domain-containing protein 138 isoform X19

  8. XM_047443551.1 → XP_047299507.1  coiled-coil domain-containing protein 138 isoform X16

  9. XM_047443549.1 → XP_047299505.1  coiled-coil domain-containing protein 138 isoform X14

  10. XM_047443547.1 → XP_047299503.1  coiled-coil domain-containing protein 138 isoform X12

  11. XM_017003493.3 → XP_016858982.1  coiled-coil domain-containing protein 138 isoform X8

  12. XM_047443555.1 → XP_047299511.1  coiled-coil domain-containing protein 138 isoform X20

  13. XM_047443540.1 → XP_047299496.1  coiled-coil domain-containing protein 138 isoform X3

  14. XM_047443550.1 → XP_047299506.1  coiled-coil domain-containing protein 138 isoform X15

  15. XM_047443544.1 → XP_047299500.1  coiled-coil domain-containing protein 138 isoform X9

  16. XM_011510761.3 → XP_011509063.1  coiled-coil domain-containing protein 138 isoform X10

    Conserved Domains (2) summary
    pfam12718
    Location:219 → 326
    Tropomyosin_1; Tropomyosin like
    cl19511
    Location:218 → 321
    DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

  17. XM_017003498.2 → XP_016858987.1  coiled-coil domain-containing protein 138 isoform X22

  18. XM_011510760.3 → XP_011509062.1  coiled-coil domain-containing protein 138 isoform X4

    Conserved Domains (3) summary
    pfam12718
    Location:219 → 326
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:256 → 475
    MreC; rod shape-determining protein MreC
    cl19511
    Location:218 → 321
    DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

  19. XM_047443552.1 → XP_047299508.1  coiled-coil domain-containing protein 138 isoform X17

  20. XM_047443548.1 → XP_047299504.1  coiled-coil domain-containing protein 138 isoform X13

  21. XM_011510757.3 → XP_011509059.1  coiled-coil domain-containing protein 138 isoform X1

    Conserved Domains (2) summary
    pfam12718
    Location:219 → 325
    Tropomyosin_1; Tropomyosin like
    cl19252
    Location:235 → 364
    MreC; rod shape-determining protein MreC

  22. XM_047443545.1 → XP_047299501.1  coiled-coil domain-containing protein 138 isoform X11

  23. XM_047443541.1 → XP_047299497.1  coiled-coil domain-containing protein 138 isoform X5

  24. XM_047443560.1 → XP_047299516.1  coiled-coil domain-containing protein 138 isoform X25

  25. XM_047443556.1 → XP_047299512.1  coiled-coil domain-containing protein 138 isoform X21

  26. XM_047443561.1 → XP_047299517.1  coiled-coil domain-containing protein 138 isoform X26

RNA

  1. XR_007069665.1 RNA Sequence

  2. XR_007069664.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    109247356..109346048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340845.1 → XP_054196820.1  coiled-coil domain-containing protein 138 isoform X23

  2. XM_054340828.1 → XP_054196803.1  coiled-coil domain-containing protein 138 isoform X6

  3. XM_054340840.1 → XP_054196815.1  coiled-coil domain-containing protein 138 isoform X18

  4. XM_054340824.1 → XP_054196799.1  coiled-coil domain-containing protein 138 isoform X2

  5. XM_054340846.1 → XP_054196821.1  coiled-coil domain-containing protein 138 isoform X24

  6. XM_054340829.1 → XP_054196804.1  coiled-coil domain-containing protein 138 isoform X7

  7. XM_054340841.1 → XP_054196816.1  coiled-coil domain-containing protein 138 isoform X19

  8. XM_054340838.1 → XP_054196813.1  coiled-coil domain-containing protein 138 isoform X16

  9. XM_054340836.1 → XP_054196811.1  coiled-coil domain-containing protein 138 isoform X14

  10. XM_054340834.1 → XP_054196809.1  coiled-coil domain-containing protein 138 isoform X12

  11. XM_054340830.1 → XP_054196805.1  coiled-coil domain-containing protein 138 isoform X8

  12. XM_054340842.1 → XP_054196817.1  coiled-coil domain-containing protein 138 isoform X20

  13. XM_054340825.1 → XP_054196800.1  coiled-coil domain-containing protein 138 isoform X3

  14. XM_054340837.1 → XP_054196812.1  coiled-coil domain-containing protein 138 isoform X15

  15. XM_054340831.1 → XP_054196806.1  coiled-coil domain-containing protein 138 isoform X9

  16. XM_054340832.1 → XP_054196807.1  coiled-coil domain-containing protein 138 isoform X10

  17. XM_054340844.1 → XP_054196819.1  coiled-coil domain-containing protein 138 isoform X22

  18. XM_054340826.1 → XP_054196801.1  coiled-coil domain-containing protein 138 isoform X4

  19. XM_054340839.1 → XP_054196814.1  coiled-coil domain-containing protein 138 isoform X17

  20. XM_054340835.1 → XP_054196810.1  coiled-coil domain-containing protein 138 isoform X13

  21. XM_054340823.1 → XP_054196798.1  coiled-coil domain-containing protein 138 isoform X1

  22. XM_054340833.1 → XP_054196808.1  coiled-coil domain-containing protein 138 isoform X11

  23. XM_054340827.1 → XP_054196802.1  coiled-coil domain-containing protein 138 isoform X5

  24. XM_054340847.1 → XP_054196822.1  coiled-coil domain-containing protein 138 isoform X25

  25. XM_054340843.1 → XP_054196818.1  coiled-coil domain-containing protein 138 isoform X21

  26. XM_054340848.1 → XP_054196823.1  coiled-coil domain-containing protein 138 isoform X26

RNA

  1. XR_008486298.1 RNA Sequence

  2. XR_008486297.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96M89.1 GenPept UniProtKB/Swiss-Prot:Q96M89

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