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    CDRT15 CMT1A duplicated region transcript 15 [ Homo sapiens (human) ]

    Gene ID: 146822, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CDRT15provided by HGNC
    Official Full Name
    CMT1A duplicated region transcript 15provided by HGNC
    Primary source
    HGNC:HGNC:14395
    See related
    Ensembl:ENSG00000223510 AllianceGenome:HGNC:14395
    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
    Biased expression in testis (RPKM 6.0), lymph node (RPKM 0.6) and 2 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CDRT15 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (14235673..14236862, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (14143439..14144628, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (14138990..14140179, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene COX10 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11742 Neighboring gene cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Neighboring gene distal CMT1A-REP Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47071 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:14109359-14109859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:14139403-14139910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:14206998-14207498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:14213102-14213622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:14213623-14214143 Neighboring gene heparan sulfate-glucosamine 3-sulfotransferase 3B1 Neighboring gene uncharacterized protein MGC12916 Neighboring gene NANOG hESC enhancer GRCh37_chr17:14226810-14227361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:14256381-14257207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8210 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:14276639-14277838 Neighboring gene uncharacterized LOC107985080

    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. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Inoue K, et al. Genome Res, 2001 Jun. PMID 11381029, Free PMC Article
    2. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bioinformatic analysis the expression and clinical significance of CDRT15 in cholangiocarcinoma using TCGA database.
      Title: Bioinformatic analysis the expression and clinical significance of CDRT15 in cholangiocarcinoma using TCGA database.
    Submit: New GeneRIF Correction

    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

    General protein information

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    Preferred Names
    CMT1A duplicated region transcript 15 protein

    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_001007530.3 → NP_001007531.1  CMT1A duplicated region transcript 15 protein isoform 1

      See identical proteins and their annotated locations for NP_001007531.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA854007, AC005224, BC071823, BC146859, HY197844
      Consensus CDS
      CCDS32569.1
      UniProtKB/Swiss-Prot
      B2RUU5, Q96T59
      Related
      ENSP00000402355.3, ENST00000420162.7

    2. NM_001348781.2 → NP_001335710.1  CMT1A duplicated region transcript 15 protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA854007, AC005224, BC071823, HY197844
      Consensus CDS
      CCDS86577.1
      UniProtKB/TrEMBL
      F2Z3C1
      Related
      ENSP00000399575.2, ENST00000431716.2

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      14235673..14236862 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      14143439..14144628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96T59.1 GenPept UniProtKB/Swiss-Prot:Q96T59

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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