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

    Gene ID: 165055, updated on 15-Jun-2019

    Summary

    Official Symbol
    CCDC138provided by HGNC
    Official Full Name
    coiled-coil domain containing 138provided by HGNC
    Primary source
    HGNC:HGNC:26531
    See related
    Ensembl:ENSG00000163006
    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

    Genomic context

    See CCDC138 in Genome Data Viewer
    Location:
    2q13
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (108786733..108885477)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109403208..109493047)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial pseudogene Neighboring gene ribosomal protein L10 pseudogene 5 Neighboring gene RAN binding protein 2 Neighboring gene ribosomal protein L39 pseudogene 16 Neighboring gene ectodysplasin A receptor Neighboring gene SH3RF3 antisense RNA 1 Neighboring gene SH3 domain containing ring finger 3

    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

    Clone Names

    • FLJ32745

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 138

    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_001303105.1NP_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)
      AC073415, BC050579, BG216415, DN919595, HY368192
      Consensus CDS
      CCDS77447.1
      UniProtKB/Swiss-Prot
      Q96M89
      Related
      ENSP00000411800.2, ENST00000412964.6
      Conserved Domains (2) summary
      pfam12718
      Location:213320
      Tropomyosin_1; Tropomyosin like
      cl19511
      Location:212315
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
    2. NM_001303106.1NP_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)
      AC073415, BC038421, BG216415, DN919595, HY368192
    3. NM_001351544.1NP_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, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:169346
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_001351545.1NP_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:158335
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001351548.1NP_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:121298
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001351549.1NP_001338478.1  coiled-coil domain-containing protein 138 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:163340
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_001351551.1NP_001338480.1  coiled-coil domain-containing protein 138 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:164320
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001351553.1NP_001338482.1  coiled-coil domain-containing protein 138 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:169346
      SMC_N; RecF/RecN/SMC N terminal domain
    9. NM_001351554.1NP_001338483.1  coiled-coil domain-containing protein 138 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:170326
      SMC_N; RecF/RecN/SMC N terminal domain
    10. NM_001351555.1NP_001338484.1  coiled-coil domain-containing protein 138 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:164320
      SMC_N; RecF/RecN/SMC N terminal domain
    11. NM_001351557.1NP_001338486.1  coiled-coil domain-containing protein 138 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (2) summary
      cl19252
      Location:208464
      MreC; rod shape-determining protein MreC
      cl25732
      Location:158335
      SMC_N; RecF/RecN/SMC N terminal domain
    12. NM_001351559.1NP_001338488.1  coiled-coil domain-containing protein 138 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:163340
      SMC_N; RecF/RecN/SMC N terminal domain
    13. NM_001351561.1NP_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:158335
      SMC_N; RecF/RecN/SMC N terminal domain
    14. NM_001351565.1NP_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, BG216415, BQ007723
    15. NM_144978.3NP_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
      Q96M89
      Related
      ENSP00000295124.4, ENST00000295124.9
      Conserved Domains (2) summary
      pfam12718
      Location:213320
      Tropomyosin_1; Tropomyosin like
      cl19511
      Location:212315
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

    RNA

    1. NR_130121.1 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)
      AC073415, AK125199, BG216415, DN919595, HY368192
      Related
      ENST00000409529.6
    2. NR_147236.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
    3. NR_147237.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
    4. NR_147238.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723

    RefSeqs of Annotated Genomes: Homo sapiens 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_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      108786733..108885485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452737.1XP_024308505.1  coiled-coil domain-containing protein 138 isoform X9

      Conserved Domains (2) summary
      cl19252
      Location:208464
      MreC; rod shape-determining protein MreC
      cl25732
      Location:158335
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_017003493.2XP_016858982.1  coiled-coil domain-containing protein 138 isoform X4

    3. XM_017003503.1XP_016858992.1  coiled-coil domain-containing protein 138 isoform X8

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

    5. XM_011510761.2XP_011509063.1  coiled-coil domain-containing protein 138 isoform X5

      Conserved Domains (2) summary
      pfam12718
      Location:219326
      Tropomyosin_1; Tropomyosin like
      cl19511
      Location:218321
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
    6. XM_017003498.1XP_016858987.1  coiled-coil domain-containing protein 138 isoform X6

    7. XM_011510760.2XP_011509062.1  coiled-coil domain-containing protein 138 isoform X3

      Conserved Domains (3) summary
      pfam12718
      Location:219326
      Tropomyosin_1; Tropomyosin like
      cl19252
      Location:256475
      MreC; rod shape-determining protein MreC
      cl19511
      Location:218321
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)
    8. XM_011510762.2XP_011509064.1  coiled-coil domain-containing protein 138 isoform X7

      Conserved Domains (2) summary
      pfam12718
      Location:219326
      Tropomyosin_1; Tropomyosin like
      cl19252
      Location:219365
      MreC; rod shape-determining protein MreC
    9. XM_011510757.2XP_011509059.1  coiled-coil domain-containing protein 138 isoform X1

      Conserved Domains (2) summary
      pfam12718
      Location:219325
      Tropomyosin_1; Tropomyosin like
      cl19252
      Location:235364
      MreC; rod shape-determining protein MreC
    10. XM_017003504.1XP_016858993.1  coiled-coil domain-containing protein 138 isoform X8

    11. XM_017003502.1XP_016858991.1  coiled-coil domain-containing protein 138 isoform X8

    RNA

    1. XR_001738653.1 RNA Sequence

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