• Gene id: 8655

Gene Summary

• Gene Symbol: DYNLL1   Gene   UCSC   Ensembl
• Aliases: DLC1, DLC8, DNCL1, DNCLC1, LC8, LC8a, PIN, hdlc1
• Gene name: dynein light chain LC8-type 1
• Alternate names: dynein light chain 1, cytoplasmic, 8 kDa dynein light chain, cytoplasmic dynein light polypeptide, dynein, cytoplasmic, light polypeptide 1, protein inhibitor of neuronal nitric oxide synthase,
• Gene location: 12q24.31 (120469856: 120498494)     Exons: 4     NC_000012.12
• Gene summary(Entrez): Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of ac
• OMIM: 601562

SNPs

rs17431717

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120474407G>A
NC_000012.11   g.120912210G>A|SEQ=[G/A]|GENE=DYNLL1

rs10849753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120473010C>A
NC_000012.12   g.120473010C>T
NC_000012.11   g.120910813C>A
NC_000012.11   g.120910813C>T|SEQ=[C/A/T]|GENE=DYNLL1

Protein Summary

• Protein general information: P63167  
  • Name: Dynein light chain 1, cytoplasmic (8 kDa dynein light chain) (DLC8) (Dynein light chain LC8 type 1) (Protein inhibitor of neuronal nitric oxide synthase) (PIN)
  • Length: 89  
  • Mass: 10,366
• Sequence:

  MCDRKAVIKNADMSEEMQQDSVECATQALEKYNIEKDIAAHIKKEFDKKYNPTWHCIVGRNFGSYVTHETKHFIY
  FYLGQVAILLFKSG

• Structural information:
  • Interpro: IPR037177  IPR019763  IPR001372  
  • Prosite: PS01239
  • PDB: 1CMI 3ZKE 3ZKF
  • PDBsum: 1CMI 3ZKE 3ZKF
  • DIP: 33150
  • STRING: ENSP00000242577
• Other Databases: GeneCards:  DYNLL1  Malacards:  DYNLL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0003774	motor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005868	cytoplasmic dynein complex	ISS	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021762	substantia nigra development	IEP	biological process
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0035721	intraciliary retrograde transport	IEA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
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:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:0008180	COP9 signalosome	IDA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0003774	motor activity	IEA	molecular function
GO:0003774	motor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005868	cytoplasmic dynein complex	IEA	cellular component
GO:0005868	cytoplasmic dynein complex	ISS	cellular component
GO:0005868	cytoplasmic dynein complex	TAS	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005875	microtubule associated complex	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007017	microtubule-based process	IEA	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021762	substantia nigra development	IEP	biological process
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0030286	dynein complex	IEA	cellular component
GO:0030286	dynein complex	IEA	cellular component
GO:0035721	intraciliary retrograde transport	IEA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
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:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:0008180	COP9 signalosome	IDA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0003774	motor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005868	cytoplasmic dynein complex	ISS	cellular component
GO:0005868	cytoplasmic dynein complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0021762	substantia nigra development	IEP	biological process
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
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:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:0008180	COP9 signalosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Male factor infertility	MIK: 6227263
Immotile-Cilia syndrome	MIK: 6227263
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 6227263
Immotile-Cilia syndrome	MIK: 6227263

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
6227263	Male infertility,Immotile-Cilia syndrome			1 infertile patient	Male infertility	Dynein
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq