DYNLRB1 (dynein light chain roadblock-type 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 83658 |
| Gene name | Dynein light chain roadblock-type 1 |
| Gene symbol | DYNLRB1 |
| Synonyms (NCBI Gene) |
BITHBLPDNCL2ADNLC2AROBLD1
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
227
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
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| Sequence length | 96 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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