Human Gene DYNLRB1 (uc002xal.3)
  Description: Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.
RefSeq Summary (NM_014183): 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].
Transcript (Including UTRs)
   Position: hg19 chr20:33,104,204-33,128,762 Size: 24,559 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr20:33,104,264-33,128,428 Size: 24,165 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:33,104,204-33,128,762)mRNA (may differ from genome)Protein (96 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DLRB1_HUMAN
DESCRIPTION: RecName: Full=Dynein light chain roadblock-type 1; AltName: Full=Bithoraxoid-like protein; Short=BLP; AltName: Full=Dynein light chain 2A, cytoplasmic; AltName: Full=Dynein-associated protein Km23; AltName: Full=Roadblock domain-containing protein 1;
FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.
SUBUNIT: Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Self-associates. Interacts with DYNLRB2. Interacts with DYNC1I1 and DYNC1I2. Interacts with RAB6A isoform 1 (GTP- bound); the interaction is direct. Interacts with RAB6A isoform 2 (GDP-bound); the interaction is direct. Interacts with RAB6B (GDP- bound).
INTERACTION: O54918-2:Bcl2l11 (xeno); NbExp=3; IntAct=EBI-372128, EBI-526080;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TISSUE SPECIFICITY: High expression in heart, liver, brain and pancreas; moderate in placenta, skeletal muscle and kidney; low in lung, prostate, testis, small intestine and colon. Isoform 1 expression is up-regulated in 64% hepatocellular carcinoma (HCC) patients.
SIMILARITY: Belongs to the GAMAD family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DYNLRB1
Diseases sorted by gene-association score: carrion's disease (1), brain germinoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 49.08 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 1416.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.6060-0.227 Picture PostScript Text
3' UTR -84.81334-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004942 - Dynein_light-rel
IPR016561 - Dynein_light_roadblock-type

Pfam Domains:
PF03259 - Roadblock/LC7 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Z09 - NMR MuPIT 2B95 - NMR MuPIT 2E8J - NMR MuPIT 2HZ5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NP97
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0045505 dynein intermediate chain binding

Biological Process:
GO:0007018 microtubule-based movement
GO:0007632 visual behavior
GO:0009416 response to light stimulus
GO:0035735 intraciliary transport involved in cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005856 cytoskeleton
GO:0005868 cytoplasmic dynein complex
GO:0005874 microtubule
GO:0005929 cilium
GO:0016020 membrane
GO:0030286 dynein complex
GO:0036157 outer dynein arm
GO:0097542 ciliary tip


-  Descriptions from all associated GenBank mRNAs
  AF132750 - Homo sapiens bithoraxoid-like protein mRNA, complete cds.
BC002481 - Homo sapiens dynein, light chain, roadblock-type 1, mRNA (cDNA clone MGC:773 IMAGE:3347555), complete cds.
AF161511 - Homo sapiens HSPC162 mRNA, complete cds.
AK294214 - Homo sapiens cDNA FLJ59194 complete cds, moderately similar to Dynein light chain 2A, cytoplasmic.
AF165516 - Homo sapiens bithoraxoid-like protein (BLP) mRNA, complete cds.
KJ899710 - Synthetic construct Homo sapiens clone ccsbBroadEn_09104 DYNLRB1 gene, encodes complete protein.
JD402020 - Sequence 383044 from Patent EP1572962.
JD425511 - Sequence 406535 from Patent EP1572962.
AF178431 - Homo sapiens BITH (BITH) mRNA, complete cds.
AY026513 - Homo sapiens dynein-associated protein HKM23 (km23) mRNA, complete cds.
BC007223 - Homo sapiens dynein, light chain, roadblock-type 1, mRNA (cDNA clone IMAGE:2989560).
AK026864 - Homo sapiens cDNA: FLJ23211 fis, clone ADSU01503, highly similar to AF161511 Homo sapiens HSPC162 mRNA.
JD208428 - Sequence 189452 from Patent EP1572962.
JD451695 - Sequence 432719 from Patent EP1572962.
AK097281 - Homo sapiens cDNA FLJ39962 fis, clone SPLEN2026411.
JD334489 - Sequence 315513 from Patent EP1572962.
JD041162 - Sequence 22186 from Patent EP1572962.
JD290574 - Sequence 271598 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NP97 (Reactome details) participates in the following event(s):

R-HSA-5624949 Assembly of the anterograde IFT train
R-HSA-5625424 The retrograde IFT train dissociates
R-HSA-5625421 The anterograde IFT train dissociates
R-HSA-5624952 Assembly of the retrograde IFT train
R-HSA-5620924 Intraflagellar transport
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: B1AKR5, BITH, DLRB1_HUMAN, DNCL2A, DNLC2A, HSPC162, NM_014183, NP_054902, Q5TC72, Q96IV3, Q9NP97, Q9NQM2, ROBLD1
UCSC ID: uc002xal.3
RefSeq Accession: NM_014183
Protein: Q9NP97 (aka DLRB1_HUMAN)
CCDS: CCDS13235.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014183.2
exon count: 4CDS single in 3' UTR: no RNA size: 702
ORF size: 291CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 667.00frame shift in genome: no % Coverage: 97.58
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.