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 ... See more...

Aliases for DYNLRB1 Gene

Aliases for DYNLRB1 Gene

  • Dynein Light Chain Roadblock-Type 1 2 3 4 5
  • DNLC2A 2 3 4
  • ROBLD1 2 3 4
  • Dynein, Cytoplasmic, Light Polypeptide 2A 2 3
  • Roadblock Domain-Containing Protein 1 3 4
  • Dynein-Associated Protein Km23 3 4
  • Bithoraxoid-Like Protein 3 4
  • DNCL2A 3 4
  • BITH 3 4
  • BLP 3 4
  • Dynein Light Chain 2A, Cytoplasmic 4
  • Roadblock Domain Containing 1 2
  • ROBL/LC7-Like 1 3
  • DYNLRB1 5

External Ids for DYNLRB1 Gene

Previous HGNC Symbols for DYNLRB1 Gene

  • DNCL2A

Previous GeneCards Identifiers for DYNLRB1 Gene

  • GC20P032568
  • GC20P033104
  • GC20P029885

Summaries for DYNLRB1 Gene

Entrez Gene Summary for DYNLRB1 Gene

  • 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]

GeneCards Summary for DYNLRB1 Gene

DYNLRB1 (Dynein Light Chain Roadblock-Type 1) is a Protein Coding gene. Diseases associated with DYNLRB1 include Carrion's Disease and Hepatocellular Carcinoma. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNLRB2.

UniProtKB/Swiss-Prot Summary for DYNLRB1 Gene

  • 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.

Gene Wiki entry for DYNLRB1 Gene

Additional gene information for DYNLRB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNLRB1 Gene

Genomics for DYNLRB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNLRB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYNLRB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNLRB1

Top Transcription factor binding sites by QIAGEN in the DYNLRB1 gene promoter:
  • aMEF-2
  • AML1a
  • Cdc5
  • IRF-1
  • MEF-2A
  • Pax-4a
  • Pax-6
  • RORalpha2
  • RSRFC4
  • SEF-1 (1)

Genomic Locations for DYNLRB1 Gene

Genomic Locations for DYNLRB1 Gene
chr20:34,515,602-34,540,958
(GRCh38/hg38)
Size:
25,357 bases
Orientation:
Plus strand
chr20:33,104,204-33,128,762
(GRCh37/hg19)
Size:
24,559 bases
Orientation:
Plus strand

Genomic View for DYNLRB1 Gene

Genes around DYNLRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNLRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNLRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNLRB1 Gene

Proteins for DYNLRB1 Gene

  • Protein details for DYNLRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP97-DLRB1_HUMAN
    Recommended name:
    Dynein light chain roadblock-type 1
    Protein Accession:
    Q9NP97
    Secondary Accessions:
    • B1AKR5
    • Q5TC72
    • Q96IV3
    • Q9NQM2

    Protein attributes for DYNLRB1 Gene

    Size:
    96 amino acids
    Molecular mass:
    10922 Da
    Quaternary structure:
    • 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).
    Miscellaneous:
    • [Isoform 2]: May result from the retention of an intron in the cDNA.

    Three dimensional structures from OCA and Proteopedia for DYNLRB1 Gene

    Alternative splice isoforms for DYNLRB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYNLRB1 Gene

Post-translational modifications for DYNLRB1 Gene

  • Ubiquitination at Lys15, Lys31, Lys52, and Lys84
  • Modification sites at PhosphoSitePlus

Other Protein References for DYNLRB1 Gene

No data available for DME Specific Peptides for DYNLRB1 Gene

Domains & Families for DYNLRB1 Gene

Gene Families for DYNLRB1 Gene

Protein Domains for DYNLRB1 Gene

InterPro:
Blocks:
  • Roadblock/LC7 family
ProtoNet:

Suggested Antigen Peptide Sequences for DYNLRB1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59194, moderately similar to Dynein light chain 2A, cytoplasmic (B4DFR2_HUMAN)
  • Roadblock domain-containing protein 1 (DLRB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NP97

UniProtKB/Swiss-Prot:

DLRB1_HUMAN :
  • Belongs to the GAMAD family.
Family:
  • Belongs to the GAMAD family.
genes like me logo Genes that share domains with DYNLRB1: view

Function for DYNLRB1 Gene

Molecular function for DYNLRB1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for DYNLRB1 Gene

Gene Ontology (GO) - Molecular Function for DYNLRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity NAS 11750132
GO:0005515 protein binding IPI 25416956
GO:0045505 dynein intermediate chain binding IBA 21873635
genes like me logo Genes that share ontologies with DYNLRB1: view
genes like me logo Genes that share phenotypes with DYNLRB1: view

Animal Models for DYNLRB1 Gene

MGI Knock Outs for DYNLRB1:
  • Dynlrb1 Dynlrb1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNLRB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DYNLRB1 Gene

Localization for DYNLRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNLRB1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DYNLRB1 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
extracellular 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DYNLRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,ISS --
GO:0005813 centrosome IBA,IDA 21399614
GO:0005856 cytoskeleton IEA --
GO:0005868 cytoplasmic dynein complex IEA,NAS 11750132
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with DYNLRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DYNLRB1 Gene

Pathways & Interactions for DYNLRB1 Gene

PathCards logo

SuperPathways for DYNLRB1 Gene

genes like me logo Genes that share pathways with DYNLRB1: view

Pathways by source for DYNLRB1 Gene

1 BioSystems pathway for DYNLRB1 Gene
1 KEGG pathway for DYNLRB1 Gene
2 GeneGo (Thomson Reuters) pathways for DYNLRB1 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Regulation of degradation of deltaF508 CFTR in CF

SIGNOR curated interactions for DYNLRB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DYNLRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA,NAS 11750132
GO:0007632 visual behavior ISS --
GO:0009416 response to light stimulus IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
genes like me logo Genes that share ontologies with DYNLRB1: view

Drugs & Compounds for DYNLRB1 Gene

No Compound Related Data Available

Transcripts for DYNLRB1 Gene

mRNA/cDNA for DYNLRB1 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNLRB1

Alternative Splicing Database (ASD) splice patterns (SP) for DYNLRB1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: -
SP10: - -

Relevant External Links for DYNLRB1 Gene

GeneLoc Exon Structure for
DYNLRB1

Expression for DYNLRB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DYNLRB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DYNLRB1 Gene

This gene is overexpressed in Amniocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DYNLRB1 Gene



Protein tissue co-expression partners for DYNLRB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNLRB1

SOURCE GeneReport for Unigene cluster for DYNLRB1 Gene:

Hs.593920

mRNA Expression by UniProt/SwissProt for DYNLRB1 Gene:

Q9NP97-DLRB1_HUMAN
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.

Evidence on tissue expression from TISSUES for DYNLRB1 Gene

  • Blood(4.6)
  • Kidney(4.6)
  • Liver(4.6)
  • Nervous system(4.5)
  • Skin(3.6)
  • Pancreas(3.5)
  • Lung(3.4)
  • Intestine(3.2)
  • Eye(3)
  • Muscle(3)
  • Heart(2.9)
  • Spleen(2.7)
  • Lymph node(2.6)
  • Adrenal gland(2.5)
  • Bone marrow(2.4)
  • Stomach(2.2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with DYNLRB1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNLRB1 Gene

Orthologs for DYNLRB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNLRB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DYNLRB1 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DYNLRB1 30 31
  • 94.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DYNLRB1 30 31
  • 93.4 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYNLRB1 31
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Dynlrb1 30 17 31
  • 91.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dynlrb1 30
  • 90.97 (n)
Chicken
(Gallus gallus)
Aves DYNLRB1 30 31
  • 84.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DYNLRB1 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dynlrb1 30
  • 78.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii dynlrb1 30 31
  • 74.31 (n)
OneToOne
zgc56335 30
Fruit Fly
(Drosophila melanogaster)
Insecta robl 31
  • 72 (a)
OneToMany
robl22E 31
  • 53 (a)
OneToMany
CG10834 31
  • 39 (a)
OneToMany
CG10822 31
  • 26 (a)
OneToMany
robls54B 31
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dyrb-1 30 31
  • 57.71 (n)
OneToOne
Species where no ortholog for DYNLRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DYNLRB1 Gene

ENSEMBL:
Gene Tree for DYNLRB1 (if available)
TreeFam:
Gene Tree for DYNLRB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNLRB1: view image

Paralogs for DYNLRB1 Gene

Paralogs for DYNLRB1 Gene

(1) SIMAP similar genes for DYNLRB1 Gene using alignment to 3 proteins:

  • DLRB1_HUMAN
  • B1AKR6_HUMAN
  • B4DFR2_HUMAN

Pseudogenes.org Pseudogenes for DYNLRB1 Gene

genes like me logo Genes that share paralogs with DYNLRB1: view

Variants for DYNLRB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNLRB1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs10036 - p.Ile71Phe
rs1063616 - p.Ser13Arg

Additional dbSNP identifiers (rs#s) for DYNLRB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DYNLRB1 Gene

Variant ID Type Subtype PubMed ID
esv1002762 CNV deletion 20482838
esv1132908 CNV deletion 17803354
esv2348050 CNV deletion 18987734
esv2660231 CNV deletion 23128226
esv2722355 CNV deletion 23290073
esv3067124 CNV deletion 24192839
esv3557019 CNV deletion 23714750
esv4648 CNV loss 18987735
nsv1071691 CNV deletion 25765185
nsv179054 CNV deletion 16902084
nsv3359 CNV deletion 18451855

Variation tolerance for DYNLRB1 Gene

Residual Variation Intolerance Score: 49.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNLRB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNLRB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNLRB1 Gene

Disorders for DYNLRB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DYNLRB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
carrion's disease
  • carrion disease
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DYNLRB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DYNLRB1 Gene

Publications for DYNLRB1 Gene

  1. Identification of two novel human dynein light chain genes, DNLC2A and DNLC2B, and their expression changes in hepatocellular carcinoma tissues from 68 Chinese patients. (PMID: 11750132) Jiang J … Zhao S (Gene 2001) 2 3 4 23
  2. Rab6 family proteins interact with the dynein light chain protein DYNLRB1. (PMID: 18044744) Wanschers B … Fransen J (Cell motility and the cytoskeleton 2008) 3 4
  3. Crystal structure of human dynein light chain Dnlc2A: structural insights into the interaction with IC74. (PMID: 16970917) Liu JF … Liang DC (Biochemical and biophysical research communications 2006) 3 4
  4. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister KK … Vallee RB (The Journal of cell biology 2005) 2 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DYNLRB1 Gene

  • Signalway Proteins for DYNLRB1

Sources for DYNLRB1 Gene