Gene Gene information from NCBI Gene database.
Entrez ID 83658
Gene name Dynein light chain roadblock-type 1
Gene symbol DYNLRB1
Synonyms (NCBI Gene)
BITHBLPDNCL2ADNLC2AROBLD1
Chromosome 20
Chromosome location 20q11.22
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 modulat
miRNA miRNA information provided by mirtarbase database.
227
miRTarBase ID miRNA Experiments Reference
MIRT949311 hsa-miR-1203 CLIP-seq
MIRT949312 hsa-miR-1252 CLIP-seq
MIRT949313 hsa-miR-1275 CLIP-seq
MIRT949314 hsa-miR-186 CLIP-seq
MIRT949315 hsa-miR-2110 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0003777 Function Microtubule motor activity NAS 11750132
GO:0005515 Function Protein binding IPI 16189514, 24986880, 25416956, 30649997, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607167 15468 ENSG00000125971
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP97
Protein name Dynein light chain roadblock-type 1 (Bithoraxoid-like protein) (BLP) (Dynein light chain 2A, cytoplasmic) (Dynein-associated protein Km23) (Roadblock domain-containing protein 1)
Protein 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
PDB 1Z09 , 2B95 , 2E8J , 2HZ5 , 6F1T , 6F1Z , 6F38 , 6F3A , 6RLB , 6SC2 , 7Z8F , 8J07 , 8PR1 , 8PTK , 8RGG , 8RGH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03259 Robl_LC7 3 93 Roadblock/LC7 domain Domain
Tissue specificity 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)
Sequence
Sequence length 96
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins
Salmonella infection
  Intraflagellar transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma of lung Lung carcinoma BEFREE 8959679
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31393067
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 16778097
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 11750132
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 8959679
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 10545285, 8959679
★☆☆☆☆
Found in Text Mining only
Small cell carcinoma of lung Lung carcinoma BEFREE 8959679
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach Neoplasms LHGDN 17556076
★☆☆☆☆
Found in Text Mining only