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

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

Summary

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

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

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001319157.2NP_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:487
    Robl_LC7; Roadblock/LC7 domain
  2. NM_001382365.1NP_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:393
    Robl_LC7; Roadblock/LC7 domain
  3. NM_001382366.1NP_001369295.1  dynein light chain roadblock-type 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL109923, AL136173
    Conserved Domains (1) summary
    pfam03259
    Location:391
    Robl_LC7; Roadblock/LC7 domain
  4. NM_001382367.1NP_001369296.1  dynein light chain roadblock-type 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL109923, AL136173
    Conserved Domains (1) summary
    pfam03259
    Location:383
    Robl_LC7; Roadblock/LC7 domain
  5. NM_014183.4NP_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:393
    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.