Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	149840
Gene name	Shieldin complex subunit 1
Gene symbol	SHLD1
Synonyms (NCBI Gene)	C20orf196RINN3
Chromosome	20
Chromosome location	20p12.3

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	NAS	29656893
GO:0002208	Process	Somatic diversification of immunoglobulins involved in immune response	NAS	29656893
GO:0005515	Function	Protein binding	IPI	29656893, 32296183, 32814053, 34354233
GO:0005694	Component	Chromosome	IDA	29656893
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	29656893
GO:0035861	Component	Site of double-strand break	NAS	29656893
GO:0043247	Process	Telomere maintenance in response to DNA damage	NAS	29656893
GO:0045830	Process	Positive regulation of isotype switching	IBA
GO:0045830	Process	Positive regulation of isotype switching	IDA	29656893
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IBA
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	29656893
GO:2001032	Process	Regulation of double-strand break repair via nonhomologous end joining	IEA
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IBA
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	29656893
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	NAS	29656893

MIM	HGNC	e!Ensembl
618028	26318	ENSG00000171984

Q8IYI0

Protein name

Shieldin complex subunit 1 (RINN1-REV7-interacting novel NHEJ regulator 3) (Shield complex subunit 1)

Protein function

Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) an

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15021	DUF4521	1 → 203	Protein of unknown function (DUF4521)	Family

Sequence

MAARDATSGSLSEESSALDLPSACDIRDYVLQGPSQEANSEAFSSLEFHSFPYSSDVDPD
TSNLNIEQNNSWTAENFWLDPAVKGQSEKEEDDGLRKSLDRFYEMFGHPQPGSANSLSAS
VCKCLSQKITQLRGQESQKYALRSFQMARVIFNRDGCSVLQRHSRDTHFYPLEEGSTSLD
DEKPNPGLSKDITHFLLQQNVMKDL

Sequence length

205

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Malignant neoplasm of breast	Breast Cancer	BEFREE	30022119		★★★★★ ★☆☆☆☆ Found in Text Mining only

SHLD1 (shieldin complex subunit 1)