RADX RPA1 related single stranded DNA binding protein, X-linked [Homo sapiens (human)] - Gene

Summary

Official Symbol: RADXprovided by HGNC
Official Full Name: RPA1 related single stranded DNA binding protein, X-linkedprovided by HGNC
Primary source: HGNC:HGNC:25486
See related: Ensembl:ENSG00000147231 AllianceGenome:HGNC:25486
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: CXorf57
Summary: Enables single-stranded DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in nuclear speck and replication fork. [provided by Alliance of Genome Resources, Nov 2021]
Expression: Broad expression in adrenal (RPKM 4.5), ovary (RPKM 4.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	X	NC_000023.11 (106611957..106679443)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (105855208..105922669)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RADX controls RAD51 filament dynamics to regulate replication fork stability.
Title: RADX controls RAD51 filament dynamics to regulate replication fork stability.
RADX buffers RAD51 to ensure the right amount of reversal and protection to maintain genome stability.
Title: RADX Modulates RAD51 Activity to Control Replication Fork Protection.
RADX interacts with single-stranded DNA to promote replication fork stability.
Title: RADX interacts with single-stranded DNA to promote replication fork stability.
By antagonizing RAD51 at forks, RADX allows cells to maintain a high capacity for homology-directed repair while ensuring that replication functions of RAD51 are properly regulated. Thus, RADX is essential to achieve the proper balance of RAD51 activity to maintain genome stability.
Title: RADX Promotes Genome Stability and Modulates Chemosensitivity by Regulating RAD51 at Replication Forks.

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)

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

SHGC-53457 (e-PCR)
- UniSTS:69720

L18426 (e-PCR)
- UniSTS:34648

Homology

Homologs of the RADX gene: The RADX gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 408 organisms have orthologs with human gene RADX
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA repair	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in nuclear speck	IDA Inferred from Direct Assay more info
is_active_in replication fork	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in replication fork	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RPA-related protein RADX

Names: RPA-related and RAD51-antagonist, X-chromosome; RPA-related, RAD51-antagonist on X-chromosome; uncharacterized protein CXorf57

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.

Genomic

NG_021317.1 RefSeqGene

Range

5049..72510

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001184782.2 → NP_001171711.1 RPA-related protein RADX isoform 2

See identical proteins and their annotated locations for NP_001171711.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AK024253, AL606833, BC047503, BC070110, DB065928

Consensus CDS

CCDS55470.1

UniProtKB/Swiss-Prot

Q6NSI4

Related

ENSP00000361623.2, ENST00000372544.6

Conserved Domains (1) summary

cl28407
Location:95 → 412

RFA1; ssDNA-binding replication factor A, large subunit [Replication, recombination and repair]
NM_018015.6 → NP_060485.4 RPA-related protein RADX isoform 1

See identical proteins and their annotated locations for NP_060485.4

Status: VALIDATED

Description

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

Source sequence(s)

BC011483, BC047503, BC070110

Consensus CDS

CCDS14519.1

UniProtKB/Swiss-Prot

Q6NSI4

Related

ENSP00000361628.4, ENST00000372548.9

Conserved Domains (1) summary

pfam17659
Location:2 → 849

DUF5521; Family of unknown function (DUF5521)