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Aliases for DYNLRB1 Gene

Aliases for DYNLRB1 Gene

  • Dynein Light Chain Roadblock-Type 1 2 3 5
  • 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
  • DNLC2A 3 4
  • ROBLD1 3 4
  • BITH 3 4
  • BLP 3 4
  • Dynein Light Chain 2A, Cytoplasmic 4
  • Roadblock Domain Containing 1 2
  • ROBL/LC7-Like 1 3

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. Among its related pathways are Organelle biogenesis and maintenance and Regulation of degradation of deltaF508 CFTR in CF. GO annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNLRB2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNLRB1 Gene

Genomics for DYNLRB1 Gene

Regulatory Elements for DYNLRB1 Gene

Enhancers for DYNLRB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F034476 0.8 FANTOM5 12.4 -39.7 -39718 0.3 CTCF MXI1 SAP130 FOXA3 HLF ZMYM3 MXD4 ZNF48 RAD21 ZGPAT DYNLRB1 ACSS2 FDX1P1 GC20M034509
GH20F034472 1.2 Ensembl ENCODE 12.4 -43.6 -43565 1.2 PKNOX1 INSM2 KLF17 ARID4B FEZF1 ZNF48 ZSCAN9 RAD21 ZEB1 EGR1 MAP1LC3A DYNLRB1 ENSG00000277558 GC20P034470
GH20F034458 0.5 ENCODE 11.3 -57.4 -57413 1.2 JUN SCRT2 ATF2 ZNF7 NR2F2 MAP1LC3A DYNLRB1 ITCH MYH7B GC20P034469 ITCH-IT1
GH20F034538 0.2 ENCODE 11.2 +22.5 22477 0.2 CTCF SAP130 ZFP64 ARID4B CEBPG THRB RAD21 RARA TEAD3 NCOR1 TP53INP2 ENSG00000231034 PIGU DYNLRB1 GC20P034543 ENSG00000206582 GC20M034527
GH20F034511 1.3 FANTOM5 Ensembl ENCODE 0.8 -3.8 -3821 2.4 PKNOX1 ARID4B DMAP1 RARA HSF1 CREM KLF11 MXD4 KAT8 PPARGC1A MAP1LC3A DYNLRB1 GC20M034509
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DYNLRB1 on UCSC Golden Path with GeneCards custom track

Promoters for DYNLRB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000400137 45 2801 PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207

Genomic Location for DYNLRB1 Gene

Chromosome:
20
Start:
34,516,355 bp from pter
End:
34,540,958 bp from pter
Size:
24,604 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).

    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 Lys 15, Lys 31, Lys 52, and Lys 84
  • 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

Suggested Antigen Peptide Sequences for DYNLRB1 Gene

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.

Gene Ontology (GO) - Molecular Function for DYNLRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003777 microtubule motor activity NAS 11750132
GO:0005515 protein binding IPI 25416956
GO:0045505 dynein intermediate chain binding IBA --
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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for DYNLRB1 Gene COMPARTMENTS Subcellular localization image for DYNLRB1 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for DYNLRB1 Gene

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

Pathways & Interactions for DYNLRB1 Gene

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

Pathways by source for DYNLRB1 Gene

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:0006810 transport IEA --
GO:0007018 microtubule-based movement NAS 11750132
GO:0007632 visual behavior ISS --
genes like me logo Genes that share ontologies with DYNLRB1: view

Transcripts for DYNLRB1 Gene

Unigene Clusters for DYNLRB1 Gene

Dynein, light chain, roadblock-type 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for DYNLRB1 Gene



Protein tissue co-expression partners for DYNLRB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DYNLRB1 Gene:

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.
genes like me logo Genes that share expression patterns with DYNLRB1: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia DYNLRB1 34 35
  • 94.1 (n)
cow
(Bos Taurus)
Mammalia DYNLRB1 34 35
  • 93.4 (n)
oppossum
(Monodelphis domestica)
Mammalia DYNLRB1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dynlrb1 34 16 35
  • 91.32 (n)
rat
(Rattus norvegicus)
Mammalia Dynlrb1 34
  • 90.97 (n)
chicken
(Gallus gallus)
Aves DYNLRB1 34 35
  • 84.03 (n)
lizard
(Anolis carolinensis)
Reptilia DYNLRB1 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dynlrb1 34
  • 78.47 (n)
zebrafish
(Danio rerio)
Actinopterygii dynlrb1 34 35
  • 74.31 (n)
zgc56335 34
fruit fly
(Drosophila melanogaster)
Insecta robl 35
  • 72 (a)
OneToMany
robl22E 35
  • 53 (a)
OneToMany
CG10834 35
  • 39 (a)
OneToMany
CG10822 35
  • 26 (a)
OneToMany
robls54B 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyrb-1 34 35
  • 57.71 (n)
Species where no ortholog for DYNLRB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DYNLRB1 Gene

Paralogs for DYNLRB1 Gene

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

Pseudogenes.org Pseudogenes for DYNLRB1 Gene

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

Variants for DYNLRB1 Gene

Sequence variations from dbSNP and Humsavar for DYNLRB1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs10036 -- 34,534,759(-) GCGAA(A/T)TCGAA nc-transcript-variant, reference, missense
rs10322 -- 34,540,864(-) GCTTC(A/C)TGCAA nc-transcript-variant, utr-variant-3-prime
rs10626123 -- 34,515,642(+) GACTC(-/CA)GAGGT upstream-variant-2KB
rs1063616 -- 34,526,303(+) CAGAG(A/C)CAGAA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs10684716 -- 34,526,507(+) TTTTT(-/TT)CATTA intron-variant

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)

Relevant External Links 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

(1) MalaCards diseases for DYNLRB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
carrion's disease
  • carrion disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DYNLRB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYNLRB1
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 22 64
  2. Rab6 family proteins interact with the dynein light chain protein DYNLRB1. (PMID: 18044744) Wanschers B.F.J. … Fransen J. (Cell Motil. Cytoskeleton 2008) 3 4 64
  3. Crystal structure of human dynein light chain Dnlc2A: structural insights into the interaction with IC74. (PMID: 16970917) Liu J.F. … Liang D.C. (Biochem. Biophys. Res. Commun. 2006) 3 4 64
  4. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister K.K. … Vallee R.B. (J. Cell Biol. 2005) 2 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DYNLRB1 Gene

Sources for DYNLRB1 Gene

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