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    DYNLRB1 dynein light chain roadblock-type 1 [ Homo sapiens (human) ]

    Gene ID: 83658, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DYNLRB1provided by HGNC
    Official Full Name
    dynein light chain roadblock-type 1provided by HGNC
    Primary source
    HGNC:HGNC:15468
    See related
    Ensembl:ENSG00000125971 MIM:607167; AllianceGenome:HGNC:15468
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BLP; BITH; DNCL2A; DNLC2A; ROBLD1
    Summary
    This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in brain (RPKM 34.0), kidney (RPKM 31.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DYNLRB1 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34515602..34540958)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36238779..36264135)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33103407..33128762)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene itchy E3 ubiquitin protein ligase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12835 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33061893-33062837 Neighboring gene microRNA 644a Neighboring gene ferredoxin 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 10290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33104047-33104912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33110743-33111242 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33113424-33114623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12840 Neighboring gene microtubule associated protein 1 light chain 3 alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33153261-33153762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33170999-33171500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33171501-33172000 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class U Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33264364-33265250

    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. Decreased tumor progression and invasion by a novel anti-cell motility target for human colorectal carcinoma cells. Jin Q, et al. PLoS One, 2013. PMID 23755307, Free PMC Article
    2. km23, a transforming growth factor-beta signaling component, is infrequently mutated in human colorectal and gastric cancers. Kang HC, et al. Cancer Genet Cytogenet, 2007 Jun. PMID 17556076
    3. Crystal structure of human dynein light chain Dnlc2A: structural insights into the interaction with IC74. Liu JF, et al. Biochem Biophys Res Commun, 2006 Oct 27. PMID 16970917
    4. Genetic and epigenetic analysis of the putative tumor suppressor km23 in primary ovarian, breast, and colorectal cancers. Campbell IG, et al. Clin Cancer Res, 2006 Jun 15. PMID 16778097
    5. Requirement for protein kinase A in the phosphorylation of the TGFβ receptor-interacting protein km23-1 as a component of TGFβ downstream effects. Jin Q, et al. Exp Cell Res, 2013 Apr 1. PMID 23333499, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human colorectal carcinoma cells display decreased tumor progression and invasion when a novel anti-cell motility target, DYNLRB1, is being silenced.
      Title: Decreased tumor progression and invasion by a novel anti-cell motility target for human colorectal carcinoma cells.
    2. TGFbeta regulates km23-1 interaction with the R1beta regulatory subunit of protein kinase A.
      Title: Requirement for protein kinase A in the phosphorylation of the TGFβ receptor-interacting protein km23-1 as a component of TGFβ downstream effects.
    3. these findings demonstrate that km23-1 regulates RhoA and motility-associated actin modulating proteins, suggesting that km23-1 may represent a novel target for anti-metastatic therapy.
      Title: Role of km23-1 in RhoA/actin-based cell migration.
    4. km23-1 is required for TGFbeta1 autoinduction through Smad2-independent Ras/ERK/JNK pathways
      Title: The TGFβ receptor-interacting protein km23-1/DYNLRB1 plays an adaptor role in TGFβ1 autoinduction via its association with Ras.
    5. Findings indicate that km23-2 (DYNLRB2) is required for Smad3-dependent TGFbeta signaling. Km23-2 has functions in TGFbeta signaling that are distinct from those for km23-1 (DYNLRB1).
      Title: Requirement of a dynein light chain in TGFbeta/Smad3 signaling.
    6. Identification of dynein light chain road block-1 as a novel interaction partner with the human reduced folate carrier.
      Title: Identification of dynein light chain road block-1 as a novel interaction partner with the human reduced folate carrier.
    7. DYNLRB1 specifically interacts with all three Rab6 isoforms and co-localises at the Golgi.
      Title: Rab6 family proteins interact with the dynein light chain protein DYNLRB1.
    8. Silencing of km23, either through somatic genetic mutation or promoter hypermethylation, is rare in ovarian, breast, and colorectal cancers.
      Title: Genetic and epigenetic analysis of the putative tumor suppressor km23 in primary ovarian, breast, and colorectal cancers.
    9. Infrequently mutated in human colorectal and gastric cancers.
      Title: km23, a transforming growth factor-beta signaling component, is infrequently mutated in human colorectal and gastric cancers.
    10. report the 2.1-A crystal structure of Dnlc2A using single anomalous diffraction
      Title: Crystal structure of human dynein light chain Dnlc2A: structural insights into the interaction with IC74.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule motor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    involved_in microtubule-based movement NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in visual behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
    		  
    located_in cilium TAS
    Traceable Author Statement
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of cytoplasmic dynein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of dynein complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein light chain roadblock-type 1
    Names
    ROBL/LC7-like 1
    bithoraxoid-like protein
    dynein, cytoplasmic, light polypeptide 2A
    dynein-associated protein Km23
    roadblock 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_001319157.2 → NP_001306086.1  dynein light chain roadblock-type 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an exon and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) is longer and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL109923, AL136173
      UniProtKB/TrEMBL
      B4DFR2
      Conserved Domains (1) summary
      smart00960
      Location:4 → 87
      Robl_LC7; Roadblock/LC7 domain

    2. NM_001382365.1 → NP_001369294.1  dynein light chain roadblock-type 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AL109923, AL136173
      Consensus CDS
      CCDS13235.1
      UniProtKB/Swiss-Prot
      B1AKR5, Q5TC72, Q96IV3, Q9NP97, Q9NQM2
      Conserved Domains (1) summary
      pfam03259
      Location:3 → 93
      Robl_LC7; Roadblock/LC7 domain

    3. NM_001382366.1 → NP_001369295.1  dynein light chain roadblock-type 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173
      Conserved Domains (1) summary
      pfam03259
      Location:3 → 91
      Robl_LC7; Roadblock/LC7 domain

    4. NM_001382367.1 → NP_001369296.1  dynein light chain roadblock-type 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173
      Conserved Domains (1) summary
      pfam03259
      Location:3 → 83
      Robl_LC7; Roadblock/LC7 domain

    5. NM_014183.4 → NP_054902.1  dynein light chain roadblock-type 1 isoform a

      See identical proteins and their annotated locations for NP_054902.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), as well as variant 8, encodes isoform a.
      Source sequence(s)
      AL109923, AL136173
      Consensus CDS
      CCDS13235.1
      UniProtKB/Swiss-Prot
      B1AKR5, Q5TC72, Q96IV3, Q9NP97, Q9NQM2
      Related
      ENSP00000349679.2, ENST00000357156.7
      Conserved Domains (1) summary
      pfam03259
      Location:3 → 93
      Robl_LC7; Roadblock/LC7 domain

    RNA

    1. NR_104032.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173

    2. NR_168131.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173
      Related
      ENST00000696986.1

    3. NR_168132.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173

    4. NR_168133.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173

    5. NR_168134.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173
      Related
      ENST00000480759.1

    6. NR_168136.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173

    7. NR_168137.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173

    8. NR_168138.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173

    9. NR_168139.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL109923, AL136173

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      34515602..34540958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36238779..36264135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177954.1: Suppressed sequence

      Description
      NM_177954.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NP97.3 GenPept UniProtKB/Swiss-Prot:Q9NP97

    Gene LinkOut

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

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