SHLD3 shieldin complex subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SHLD3provided by HGNC
Official Full Name: shieldin complex subunit 3provided by HGNC
Primary source: HGNC:HGNC:53826
See related: Ensembl:ENSG00000253251 MIM:618030; AllianceGenome:HGNC:53826
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RINN1; CTC-534A2.2
Summary: Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in nucleolus; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Jan 2025]
Orthologs: mouse all
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Genomic context

Location:: 5q12.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (65625027..65630928)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (66446811..66452696)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (64920854..64926755)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural basis for shieldin complex subunit 3-mediated recruitment of the checkpoint protein REV7 during DNA double-strand break repair.
Title: Structural basis for shieldin complex subunit 3-mediated recruitment of the checkpoint protein REV7 during DNA double-strand break repair.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of double-strand break repair via nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of double-strand break repair via nonhomologous end joining	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of isotype switching	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of isotype switching	IDA Inferred from Direct Assay more info	PubMed
involved_in somatic diversification of immunoglobulins involved in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere maintenance in response to DNA damage	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	NAS Non-traceable Author Statement more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: shieldin complex subunit 3

Names: REV7-interacting novel NHEJ regulator 1; shield complex subunit 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.