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

Gene ID: 83658, updated on 4-Nov-2018

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; Vega:OTTHUMG00000032302
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

Genomic context

See DYNLRB1 in Genome Data Viewer
Location:
20q11.22
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (34516384..34540958)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33104193..33128762)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene itchy E3 ubiquitin protein ligase Neighboring gene microRNA 644a Neighboring gene ferredoxin 1 pseudogene 1 Neighboring gene microtubule associated protein 1 light chain 3 alpha Neighboring gene phosphatidylinositol glycan anchor biosynthesis class U

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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)

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_001281727.1NP_001268656.1  dynein light chain roadblock-type 1 isoform b

    See identical proteins and their annotated locations for NP_001268656.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3, and 4 encode the same isoform.
    Source sequence(s)
    AF165516, CB149456
    UniProtKB/Swiss-Prot
    Q9NP97
    Conserved Domains (1) summary
    smart00960
    Location:158
    Robl_LC7; Roadblock/LC7 domain
  2. NM_001281728.1NP_001268657.1  dynein light chain roadblock-type 1 isoform b

    See identical proteins and their annotated locations for NP_001268657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3, and 4 encode the same isoform.
    Source sequence(s)
    AF165516, BQ639804, CB149456
    UniProtKB/Swiss-Prot
    Q9NP97
    Conserved Domains (1) summary
    smart00960
    Location:158
    Robl_LC7; Roadblock/LC7 domain
  3. NM_001281729.1NP_001268658.1  dynein light chain roadblock-type 1 isoform c

    See identical proteins and their annotated locations for NP_001268658.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a longer and distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AF165516, BM561321, CB149456
    UniProtKB/Swiss-Prot
    Q9NP97
    Conserved Domains (1) summary
    smart00960
    Location:2798
    Robl_LC7; Roadblock/LC7 domain
  4. NM_001319157.1NP_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)
    AK294214, AL136173, CB149456
    UniProtKB/TrEMBL
    B4DFR2
    Conserved Domains (1) summary
    smart00960
    Location:487
    Robl_LC7; Roadblock/LC7 domain
  5. NM_014183.3NP_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) encodes isoform a.
    Source sequence(s)
    AF165516, CB149456
    Consensus CDS
    CCDS13235.1
    UniProtKB/Swiss-Prot
    Q9NP97
    Related
    ENSP00000349679.2, OTTHUMP00000030691, ENST00000357156.6, OTTHUMT00000078791
    Conserved Domains (1) summary
    smart00960
    Location:491
    Robl_LC7; Roadblock/LC7 domain
  6. NM_177953.2NP_808852.1  dynein light chain roadblock-type 1 isoform b

    See identical proteins and their annotated locations for NP_808852.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3, and 4 encode the same isoform.
    Source sequence(s)
    AF165516, BM791453, CB149456
    UniProtKB/Swiss-Prot
    Q9NP97
    Conserved Domains (1) summary
    smart00960
    Location:158
    Robl_LC7; Roadblock/LC7 domain

RNA

  1. NR_104032.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF165516, BG419592, CB149456

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    34516384..34540958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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