• Gene id: 83450

Gene Summary

• Gene Symbol: DRC3   Gene   UCSC   Ensembl
• Aliases: CFAP134, LRRC48
• Gene name: dynein regulatory complex subunit 3
• Alternate names: dynein regulatory complex subunit 3, leucine rich repeat containing 48, leucine-rich repeat-containing protein 48,
• Gene location: 17p11.2 (17972765: 18016888)     Exons: 20     NC_000017.11
• OMIM: 618758

Protein Summary

• Protein general information: Q9H069  
  • Name: Dynein regulatory complex subunit 3 (Leucine rich repeat containing protein 48)
  • Length: 523  
  • Mass: 61054
• Sequence:

  MNQPCNSMEPRVMDDDMLKLAVGDQGPQEEAGQLAKQEGILFKDVLSLQLDFRNILRIDNLWQFENLRKLQLDNN
  IIEKIEGLENLAHLVWLDLSFNNIETIEGLDTLVNLEDLSLFNNRISKIDSLDALVKLQVLSLGNNRIDNMMNII
  YLRRFKCLRTLSLSRNPISEAEDYKMFICAYLPDLMYLDYRRIDDHTKKLAEAKHQYSIDELKHQENLMQAQLED
  EQAQREELEKHKTAFVEHLNGSFLFDSMYAEDSEGNNLSYLPGVGELLETYKDKFVIICVNIFEYGLKQQEKRKT
  ELDTFSECVREAIQENQEQGKRKIAKFEEKHLSSLSAIREELELPNIEKMILECSADISELFDALMTLEMQLVEQ
  LEETINMFERNIVDMVGLFIENVQSLMAQCRDLENHHHEKLLEISISTLEKIVEGDLDEDLPNDLRALFVDKDTI
  VNAVGASHDIHLLKIDNREDELVTRINSWCTRLIDRIHKDEIMRNRKRVKEINQYIDHMQSELDNLECGDILD

• Structural information:
  • Protein Domains: (166..20-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000382140
• Other Databases: GeneCards:  DRC3  Malacards:  DRC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray