RAD51D RAD51 paralog D [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAD51Dprovided by HGNC
Official Full Name: RAD51 paralog Dprovided by HGNC
Primary source: HGNC:HGNC:9823
See related: Ensembl:ENSG00000185379 MIM:602954; AllianceGenome:HGNC:9823
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: TRAD; R51H3; BROVCA4; RAD51L3
Summary: The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (35092221..35119860, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (36040135..36067774, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (33419240..33446879, complement)

Chromosome 17 - NC_000017.11 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: 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?

Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
Title: Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
Four cancer cases with pathological germline variant RAD51D c.270_271dup.
Title: Four cancer cases with pathological germline variant RAD51D c.270_271dup.
Endometrial Cancer in a Family With RAD51D Gene Mutation.
Title: Endometrial Cancer in a Family With RAD51D Gene Mutation.
Structural insights into BCDX2 complex function in homologous recombination.
Title: Structural insights into BCDX2 complex function in homologous recombination.
Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
Title: Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Title: UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
YTHDF3 mediates HNF1alpha regulation of cervical cancer radio-resistance by promoting RAD51D translation in an m6A-dependent manner.
Title: YTHDF3 mediates HNF1α regulation of cervical cancer radio-resistance by promoting RAD51D translation in an m6A-dependent manner.
Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
Title: Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
Clinical characteristics and survival analysis of Chinese ovarian cancer patients with RAD51D germline mutations.
Title: Clinical characteristics and survival analysis of Chinese ovarian cancer patients with RAD51D germline mutations.
Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways.
Title: Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Breast-ovarian cancer, familial, susceptibility to, 4 MedGen: C3280345 OMIM: 614291 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-01-09) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-01-09) ClinGen Genome Curation PagePubMed

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

RH66172 (e-PCR)
- UniSTS:88875

RAD51L3_3426 (e-PCR)
- UniSTS:471738

Readthrough RAD51L3-RFFL

Readthrough gene: RAD51L3-RFFL, Included gene: RFFL

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP-dependent activity, acting on DNA	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent activity, acting on DNA	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	TAS Traceable Author Statement more info	PubMed
contributes_to four-way junction DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to four-way junction DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables gamma-tubulin binding	IDA Inferred from Direct Assay 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
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in DNA strand invasion	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA strand invasion	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interstrand cross-link repair	IEA Inferred from Electronic Annotation more info
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via recombination	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Rad51B-Rad51C-Rad51D-XRCC2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Rad51B-Rad51C-Rad51D-XRCC2 complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
is_active_in replication fork	IBA Inferred from Biological aspect of Ancestor more info
located_in replication fork	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA repair protein RAD51 homolog 4

Names: RAD51 homolog D; RAD51-like protein 3; recombination repair protein

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_031858.1 RefSeqGene

Range

5001..25078

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_516

mRNA and Protein(s)

NM_001142571.2 → NP_001136043.1 DNA repair protein RAD51 homolog 4 isoform 6

See identical proteins and their annotated locations for NP_001136043.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an in-frame exon but instead includes a different in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (6) is longer than isoform 1.

Source sequence(s)

AC022916, AK296241, AL117459, BX647297

Consensus CDS

CCDS45646.1

UniProtKB/Swiss-Prot

O75771

Related

ENSP00000466399.1, ENST00000590016.6

Conserved Domains (1) summary

cl21455
Location:109 → 337

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_002878.4 → NP_002869.3 DNA repair protein RAD51 homolog 4 isoform 1

See identical proteins and their annotated locations for NP_002869.3

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as TRAD) encodes isoform 1.

Source sequence(s)

AC022916, AL117459, BI916871, BX647297

Consensus CDS

CCDS11287.1

UniProtKB/Swiss-Prot

B4DJU7, E1P637, O43537, O60355, O75196, O75771, O75847, O75848, O76073, O76085, O94908, Q9UFU5

Related

ENSP00000338790.6, ENST00000345365.11

Conserved Domains (2) summary

cl27598
Location:8 → 55

TOP1Bc; Bacterial DNA topoisomeraes I ATP-binding domain

cl28885
Location:82 → 317

RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
NM_133629.3 → NP_598332.1 DNA repair protein RAD51 homolog 4 isoform 4

See identical proteins and their annotated locations for NP_598332.1

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as TRAD-d3) lacks three alternate exons which results in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AC022916, AL117459, BX647297

Consensus CDS

CCDS11288.1

UniProtKB/Swiss-Prot

O75771

Related

ENSP00000338408.6, ENST00000335858.11

Conserved Domains (1) summary

cl21455
Location:36 → 205

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

NR_037711.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as TRAD-d1) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB016223, AC022916, AL117459, BI916871
NR_037712.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as TRAD-d2) lacks an alternate exon in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB016224, AC022916, AL117459, BI916871

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

35092221..35119860 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

36040135..36067774 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_133627.1: Suppressed sequence

Description

NM_133627.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate
NM_133628.1: Suppressed sequence

Description

NM_133628.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
NM_133630.1: Suppressed sequence

Description

NM_133630.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.