RAD9A RAD9 checkpoint clamp component A [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAD9Aprovided by HGNC
Official Full Name: RAD9 checkpoint clamp component Aprovided by HGNC
Primary source: HGNC:HGNC:9827
See related: Ensembl:ENSG00000172613 MIM:603761; AllianceGenome:HGNC:9827
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAD9
Summary: This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in spleen (RPKM 9.1), skin (RPKM 8.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67391986..67398412)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67386101..67392527)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67159457..67165883)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unveiling an anoikis-related risk model and the role of RAD9A in colon cancer.
Title: Unveiling an anoikis-related risk model and the role of RAD9A in colon cancer.
Structural basis for intra- and intermolecular interactions on RAD9 subunit of 9-1-1 checkpoint clamp implies functional 9-1-1 regulation by RHINO.
Title: Structural basis for intra- and intermolecular interactions on RAD9 subunit of 9-1-1 checkpoint clamp implies functional 9-1-1 regulation by RHINO.
DNMT1 and DNMT3B regulate tumorigenicity of human prostate cancer cells by controlling RAD9 expression through targeted methylation.
Title: DNMT1 and DNMT3B regulate tumorigenicity of human prostate cancer cells by controlling RAD9 expression through targeted methylation.
Rad9/53BP1 promotes DNA repair via crossover recombination by limiting the Sgs1 and Mph1 helicases.
Title: Rad9/53BP1 promotes DNA repair via crossover recombination by limiting the Sgs1 and Mph1 helicases.
breast and lung tumor suppressive activities of resveratrol are, at least in part, mediated by the upregulation of Rad9 in a DNA damage response pathway involving reactive oxygen species
Title: Resveratrol induced premature senescence and inhibited epithelial-mesenchymal transition of cancer cells via induction of tumor suppressor Rad9.
RAD9A drives metastasis by controlling AGR2 abundance.
Title: RAD9A promotes metastatic phenotypes through transcriptional regulation of anterior gradient 2 (AGR2).
The authors show that human Cyclin-Dependent-Kinases (CDKs) target the RAD9 subunit of the 9-1-1 checkpoint clamp on Thr292, to modulate DNA damage checkpoint activation. Thr292 phosphorylation on RAD9 creates a binding site for Polo-Like-Kinase1 (PLK1), which phosphorylates RAD9 on Thr313.
Title: The CDK-PLK1 axis targets the DNA damage checkpoint sensor protein RAD9 to promote cell proliferation and tolerance to genotoxic stress.
TLK1B mediated phosphorylation of Rad9 regulates its nuclear/cytoplasmic localization and cell cycle checkpoint
Title: TLK1B mediated phosphorylation of Rad9 regulates its nuclear/cytoplasmic localization and cell cycle checkpoint.
RAD9 has a prominent role in the ATR-Chk1 pathway that is necessary for successful formation of the damage-sensing complex and DNA damage checkpoint signaling.
Title: Regulation of ATRIP protein abundance by RAD9 in the DNA damage repair pathway.
these results demonstrate a positive feedback loop involving Rad9A-dependend activation of Chk1.
Title: Chk1 Activation Protects Rad9A from Degradation as Part of a Positive Feedback Loop during Checkpoint Signalling.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

csnprad9-pcr7-1 (e-PCR)
- UniSTS:243117

G67560 (e-PCR)
- UniSTS:207048

G67561 (e-PCR)
- UniSTS:207049

G67562 (e-PCR)
- UniSTS:207050

G67563 (e-PCR)
- UniSTS:207051

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables double-stranded DNA 3'-5' DNA exonuclease activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to ionizing radiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
involved_in mitotic intra-S DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of checkpoint clamp complex	IBA Inferred from Biological aspect of Ancestor more info
part_of checkpoint clamp complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cell cycle checkpoint control protein RAD9A

Names: DNA repair exonuclease rad9 homolog A; RAD9 homolog A; hRAD9

NP_001230153.1

EC 3.1.11.2

NP_004575.1

EC 3.1.11.2

XP_006718715.1

EC 3.1.11.2

XP_016873587.1

EC 3.1.11.2

XP_047283337.1

EC 3.1.11.2

XP_047283338.1

EC 3.1.11.2

XP_047283339.1

EC 3.1.11.2

XP_054225560.1

EC 3.1.11.2

XP_054225561.1

EC 3.1.11.2

XP_054225562.1

EC 3.1.11.2

XP_054225563.1

EC 3.1.11.2

XP_054225564.1

EC 3.1.11.2

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.

mRNA and Protein(s)

NM_001243224.1 → NP_001230153.1 cell cycle checkpoint control protein RAD9A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon (with an in-frame AUG) compared to variant 1. This results in a a shorter isoform (2) with a distinct N-terminus compared to isoform 1.

Source sequence(s)

AA708970, CB164642, CN402466, U53174

UniProtKB/Swiss-Prot

Q99638

Conserved Domains (1) summary

cl24017
Location:1 → 191

PCNA; Proliferating Cell Nuclear Antigen (PCNA) domain found in eukaryotes and archaea. These polymerase processivity factors play a role in DNA replication and repair. PCNA encircles duplex DNA in its central cavity, providing a DNA-bound platform for the ...
NM_004584.3 → NP_004575.1 cell cycle checkpoint control protein RAD9A isoform 1

See identical proteins and their annotated locations for NP_004575.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).

Source sequence(s)

AA708970, BC014848, U53174

Consensus CDS

CCDS8159.1

UniProtKB/Swiss-Prot

B2RCZ8, Q6FI29, Q96C41, Q99638

Related

ENSP00000311360.2, ENST00000307980.7

Conserved Domains (1) summary

pfam04139
Location:13 → 265

Rad9; Rad9

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

67391986..67398412

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427382.1 → XP_047283338.1 cell cycle checkpoint control protein RAD9A isoform X3
XM_047427383.1 → XP_047283339.1 cell cycle checkpoint control protein RAD9A isoform X4
XM_047427381.1 → XP_047283337.1 cell cycle checkpoint control protein RAD9A isoform X2
XM_006718652.4 → XP_006718715.1 cell cycle checkpoint control protein RAD9A isoform X1

Conserved Domains (2) summary

cd00577
Location:47 → 278

PCNA; Proliferating Cell Nuclear Antigen (PCNA) domain found in eukaryotes and archaea. These polymerase processivity factors play a role in DNA replication and repair. PCNA encircles duplex DNA in its central cavity, providing a DNA-bound platform for the ...

pfam04139
Location:46 → 276

Rad9; Rad9
XM_017018098.2 → XP_016873587.1 cell cycle checkpoint control protein RAD9A isoform X5

Related

ENST00000535644.1

Conserved Domains (1) summary

cl24017
Location:1 → 75

PCNA; Proliferating Cell Nuclear Antigen (PCNA) domain found in eukaryotes and archaea. These polymerase processivity factors play a role in DNA replication and repair. PCNA encircles duplex DNA in its central cavity, providing a DNA-bound platform for the ...

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

67386101..67392527

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369587.1 → XP_054225562.1 cell cycle checkpoint control protein RAD9A isoform X3
XM_054369588.1 → XP_054225563.1 cell cycle checkpoint control protein RAD9A isoform X4
XM_054369586.1 → XP_054225561.1 cell cycle checkpoint control protein RAD9A isoform X2
XM_054369585.1 → XP_054225560.1 cell cycle checkpoint control protein RAD9A isoform X1
XM_054369589.1 → XP_054225564.1 cell cycle checkpoint control protein RAD9A isoform X5