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    DYNLT5 dynein light chain Tctex-type family member 5 [ Homo sapiens (human) ]

    Gene ID: 200132, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DYNLT5provided by HGNC
    Official Full Name
    dynein light chain Tctex-type family member 5provided by HGNC
    Primary source
    HGNC:HGNC:26882
    See related
    Ensembl:ENSG00000152760 MIM:619994; AllianceGenome:HGNC:26882
    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
    TCTEX1D1
    Summary
    Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in placenta (RPKM 2.7), liver (RPKM 2.4) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p31.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (66752459..66779047)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (66629993..66656589)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (67218142..67244730)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SH3GL interacting endocytic adaptor 1 Neighboring gene uncharacterized LOC124904196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1166 Neighboring gene microRNA 3117 Neighboring gene insulin like 5 Neighboring gene dynein axonemal intermediate chain 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1167

    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. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Spitali P, et al. Eur J Hum Genet, 2020 Jun. PMID 31896777, Free PMC Article
    2. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. Cho KJ, et al. PLoS Genet, 2018 Mar. PMID 29601588, Free PMC Article
    3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
      Title: TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
    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

    Clone Names

    • FLJ40873, MGC125768

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dynein light chain Tctex-type 5
    Names
    Tctex1 domain containing 1
    tctex1 domain-containing protein 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_152665.3 → NP_689878.2  dynein light chain Tctex-type 5

      See identical proteins and their annotated locations for NP_689878.2

      Status: VALIDATED

      Source sequence(s)
      AI016360, AK098192, AL354978
      Consensus CDS
      CCDS633.1
      UniProtKB/Swiss-Prot
      Q06YR9, Q5VYE1, Q8N7M0
      Related
      ENSP00000282670.2, ENST00000282670.7
      Conserved Domains (1) summary
      pfam03645
      Location:81 → 177
      Tctex-1; Tctex-1 family

    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
      66752459..66779047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448667.1 → XP_047304623.1  dynein light chain Tctex-type 5 isoform X2

    2. XM_047448668.1 → XP_047304624.1  dynein light chain Tctex-type 5 isoform X2

    3. XM_047448675.1 → XP_047304631.1  dynein light chain Tctex-type 5 isoform X2

    4. XM_047448666.1 → XP_047304622.1  dynein light chain Tctex-type 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      66629993..66656589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334936.1 → XP_054190911.1  dynein light chain Tctex-type 5 isoform X2

    2. XM_054334937.1 → XP_054190912.1  dynein light chain Tctex-type 5 isoform X2

    3. XM_054334938.1 → XP_054190913.1  dynein light chain Tctex-type 5 isoform X2

    4. XM_054334935.1 → XP_054190910.1  dynein light chain Tctex-type 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7M0.2 GenPept UniProtKB/Swiss-Prot:Q8N7M0

    Gene LinkOut

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

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