• Gene id: 83658

Gene Summary

• Gene Symbol: DYNLRB1   Gene   UCSC   Ensembl
• Aliases: BITH, BLP, DNCL2A, DNLC2A, ROBLD1
• Gene name: dynein light chain roadblock-type 1
• Alternate names: dynein light chain roadblock-type 1, ROBL/LC7-like 1, bithoraxoid-like protein, dynein, cytoplasmic, light polypeptide 2A, dynein-associated protein Km23, roadblock domain-containing protein 1,
• Gene location: 20q11.22 (34516383: 34540957)     Exons: 7     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 607167

Protein Summary

• Protein general information: Q9NP97  
  • 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)
  • Length: 96  
  • Mass: 10922
  • 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:

  MAEVEETLKRLQSQKGVQGIIVVNTEGIPIKSTMDNPTTTQYASLMHSFILKARSTVRDIDPQNDLTFLRIRSKK
  NEIMVAPDKDYFLIVIQNPTE

• Structural information:
  • Interpro: IPR016561  IPR004942  
  • PDB: 1Z09 2B95 2E8J 2HZ5 6F1T 6F1Z 6F38 6F3A 6RLB 6SC2
  • PDBsum: 1Z09 2B95 2E8J 2HZ5 6F1T 6F1Z 6F38 6F3A 6RLB 6SC2
  • STRING: ENSP00000349679
• Other Databases: GeneCards:  DYNLRB1  Malacards:  DYNLRB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045505	dynein intermediate chain binding	IBA	molecular function
GO:0007018	microtubule-based movement	IBA	biological process
GO:0005868	cytoplasmic dynein complex	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005868	cytoplasmic dynein complex	ISS	cellular component
GO:0005868	cytoplasmic dynein complex	IEA	cellular component
GO:0007018	microtubule-based movement	IEA	biological process
GO:0030286	dynein complex	IEA	cellular component
GO:0003774	motor activity	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007632	visual behavior	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0009416	response to light stimulus	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005868	cytoplasmic dynein complex	NAS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007632	visual behavior	ISS	biological process
GO:0007018	microtubule-based movement	NAS	biological process
GO:0003777	microtubule motor activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection

Diseases

Associated diseases	References
hepatocellular carcinoma	PMID:11750132
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray