• Gene id: 149840

Gene Summary

• Gene Symbol: SHLD1   Gene   UCSC   Ensembl
• Aliases: C20orf196, RINN3
• Gene name: shieldin complex subunit 1
• Alternate names: shieldin complex subunit 1, RINN1-REV7-interacting novel NHEJ regulator 3, shield complex subunit 1, uncharacterized protein C20orf196,
• Gene location: 20p12.3 (5750285: 5864406)     Exons: 11     NC_000020.11
• OMIM: 618028

Protein Summary

• Protein general information: Q8IYI0  
  • Name: Shieldin complex subunit 1 (RINN1 REV7 interacting novel NHEJ regulator 3) (Shield complex subunit 1)
  • Length: 205  
  • Mass: 22938
• Sequence:

  MAARDATSGSLSEESSALDLPSACDIRDYVLQGPSQEANSEAFSSLEFHSFPYSSDVDPDTSNLNIEQNNSWTAE
  NFWLDPAVKGQSEKEEDDGLRKSLDRFYEMFGHPQPGSANSLSASVCKCLSQKITQLRGQESQKYALRSFQMARV
  IFNRDGCSVLQRHSRDTHFYPLEEGSTSLDDEKPNPGLSKDITHFLLQQNVMKDL

• Structural information:
  • Interpro: IPR027821  
  • STRING: ENSP00000305875
• Other Databases: GeneCards:  SHLD1  Malacards:  SHLD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035861	site of double-strand break	IBA	cellular component
GO:0045830	positive regulation of isotype switching	IBA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IBA	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IBA	biological process
GO:2001032	regulation of double-strand break repair via nonhomologous end joining	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0045830	positive regulation of isotype switching	IDA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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