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

Gene ID: 83658, updated on 3-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
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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 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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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

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

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