• Gene id: 92749

Gene Summary

• Gene Symbol: DRC1   Gene   UCSC   Ensembl
• Aliases: C2orf39, CCDC164, CILD21
• Gene name: dynein regulatory complex subunit 1
• Alternate names: dynein regulatory complex protein 1, coiled-coil domain-containing protein 164,
• Gene location: 2p23.3 (26401919: 26456712)     Exons: 17     NC_000002.12
• Gene summary(Entrez): This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
• OMIM: 605162

Protein Summary

• Protein general information: Q96MC2  
  • Name: Dynein regulatory complex protein 1 (Coiled coil domain containing protein 164)
  • Length: 740  
  • Mass: 87134
• Sequence:

  MNPPGSLEALDPNVDEHLSTQILAPSVHSDNSQERIQARRLRIAARLEARRREALGEYLDGKKESEEDQSKSYKQ
  KEESRLKLAKLLLCGTELVTNIQVAIDIREIHRRVEEEEIKRQRIEKLENEVKTSQDKFDEITSKWEEGKQKRIP
  QELWEMLNTQQLHCAGLLEDKNKLISELQQELKTKDDQYVKDLKKQSDDICLLLERMEEQVKNVMKTFREELYNI
  EKAFEVERQELLASNKKKWEQALQAHNAKELEYLNNRMKKVEDYEKQLNRQRIWDCEEYNMIKIKLEQDVQILEQ
  QLQQRKAIYQLNQEKLEYNLQVLKKRDEESTVIKSQQKRKINRLHDILNNLRSKYAKQIKQFQEENQSLTSDYKR
  LVMQFKELQKAMRHFALIDDEKFWEIWLMNEEEAKDLIARAFDVDRIIHTHHLGLPWAAPDFWFLNNVGPISQQP
  QKSATQIVEEMLMRSEEEEAEEAAAEPESYLDLPKQISEKTTKRILMLLCDESGFLIESKLLSLLLPLEQNECYL
  LRLDAIFSALGIESEDDLYKLVNFFLKYRAHRLSSSLQIKPCSQASMEKASMEETSTRSELELAEQTEMEGEKEE
  SLVEGEKEEEEETPPSPWVIHPNDVLKILEAFVMGLKKPRDSRAPLRVQKNVRDNSKDSEYWQALTTVIPSSKQN
  LWDALYTALEKYHLVLTQRAKLLLENSSLEQQNTELQALLQQYLNSKINSELQVPPTQVLRVPTK

• Structural information:
  • Interpro: IPR039505  IPR039750  IPR029440  
  • STRING: ENSP00000288710
• Other Databases: GeneCards:  DRC1  Malacards:  DRC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IBA	cellular component
GO:0060285	cilium-dependent cell motility	IBA	biological process
GO:0070286	axonemal dynein complex assembly	IBA	biological process
GO:0003352	regulation of cilium movement	IBA	biological process
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0060285	cilium-dependent cell motility	IMP	biological process
GO:0005930	axoneme	ISS	cellular component
GO:0005858	axonemal dynein complex	IEA	cellular component
GO:0070286	axonemal dynein complex assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

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