RDM1 RAD52 motif containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RDM1provided by HGNC
Official Full Name: RAD52 motif containing 1provided by HGNC
Primary source: HGNC:HGNC:19950
See related: Ensembl:ENSG00000278023 MIM:612896; AllianceGenome:HGNC:19950
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: RAD52B
Summary: This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 2.2), lymph node (RPKM 0.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (35918080..35930773, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (36865987..36878680, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (34245084..34257777, 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?

Association of RDM1 with osteosarcoma progression via cell cycle and MEK/ERK signalling pathway regulation.
Title: Association of RDM1 with osteosarcoma progression via cell cycle and MEK/ERK signalling pathway regulation.
Correlation analysis of RDM1 gene with immune infiltration and clinical prognosis of hepatocellular carcinoma.
Title: Correlation analysis of RDM1 gene with immune infiltration and clinical prognosis of hepatocellular carcinoma.
RDM1 plays an oncogenic role in human ovarian carcinoma cells.
Title: RDM1 plays an oncogenic role in human ovarian carcinoma cells.
Loss of RDM1 enhances hepatocellular carcinoma progression via p53 and Ras/Raf/ERK pathways.
Title: Loss of RDM1 enhances hepatocellular carcinoma progression via p53 and Ras/Raf/ERK pathways.
RDM1 promotes critical processes in breast cancer tumorigenesis.
Title: RDM1 promotes critical processes in breast cancer tumorigenesis.
Knockdown of RDM1 in lung adenocarcinoma cells reduces cell proliferation and promotes apoptosis, consistent with the role RDM1 in the overexpression experiments. Xenograft mouse model shows stable knockdown of RDM1 significantly inhibits lung adenocarcinoma tumor growth. These in vitro and in vivo results conclude that RDM1 plays an oncogenic role in human lung adenocarcinoma.
Title: RDM1 plays an oncogenic role in human lung adenocarcinoma cells.
Due to its similarity to RAD52, we hypothesized that RDM1 potentially repairs DNA doublestrand breaks arising through DNA replication.
Title: RAD52 motif‑containing protein 1 promotes non‑small cell lung cancer cell proliferation and survival via cell cycle regulation.
The identification of 11 human cDNAs encoding RDM1 protein isoforms which is generated by alternative pre-mRNA splicing and differential usage of two translational start sites.
Title: Subcellular distribution of human RDM1 protein isoforms and their nucleolar accumulation in response to heat shock and proteotoxic stress.
RDM1 recognizes DNA distortions induced by cisplatin-DNA adducts in vitro; possible role in spermatogenesis
Title: RDM1, a novel RNA recognition motif (RRM)-containing protein involved in the cell response to cisplatin in vertebrates.

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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

NoName (e-PCR)
- UniSTS:486534

RAD52B_8155 (e-PCR)
- UniSTS:468634

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IEA Inferred from Electronic Annotation more info
located_in PML body	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: RAD52 motif-containing protein 1

Names: RAD52 homolog B; RAD52 motif 1

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_001034836.2 → NP_001030008.1 RAD52 motif-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001030008.1

Status: REVIEWED

Description

Transcript Variant: This variant(2) differs in the 3' coding region and UTR, compared to variant 1. This results in a shorter protein (isoform 2) that has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC004675, AC244100, BM559857

Consensus CDS

CCDS42299.1

UniProtKB/TrEMBL

B4DZ74, C9JYC6

Related

ENSP00000482288.1, ENST00000613308.4

Conserved Domains (1) summary

cd12364
Location:15 → 95

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_001163120.2 → NP_001156592.1 RAD52 motif-containing protein 1 isoform 3

See identical proteins and their annotated locations for NP_001156592.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (3, also known as zeta) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BU599050, BX376188, EF488478

Consensus CDS

CCDS54110.1

UniProtKB/Swiss-Prot

Q8NG50

Related

ENSP00000483387.1, ENST00000612980.4

Conserved Domains (1) summary

cd12364
Location:15 → 95

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_001163121.2 → NP_001156593.1 RAD52 motif-containing protein 1 isoform 4

See identical proteins and their annotated locations for NP_001156593.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4, also known as gamma) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BU599050, BX376188, EF488475

Consensus CDS

CCDS54111.1

UniProtKB/Swiss-Prot

Q8NG50

Related

ENSP00000478915.1, ENST00000616596.4

Conserved Domains (1) summary

cd12364
Location:15 → 95

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_001163122.1 → NP_001156594.1 RAD52 motif-containing protein 1 isoform 5

See identical proteins and their annotated locations for NP_001156594.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5, also known as DeltaN-gamma) has a shorter and distinct N-terminus and lacks an internal segment compared to isoform 1.

Source sequence(s)

AW138754, BX376188, EF488481

Consensus CDS

CCDS59281.1

UniProtKB/Swiss-Prot

Q8NG50

Related

ENSP00000483933.1, ENST00000619828.4

Conserved Domains (1) summary

cd12364
Location:10 → 72

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_001163124.1 → NP_001156596.1 RAD52 motif-containing protein 1 isoform 6

See identical proteins and their annotated locations for NP_001156596.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (6, also known as DeltaN-zeta) has a shorter and distinct N-terminus and lacks an internal segment compared to isoform 1.

Source sequence(s)

AW138754, BX376188, EF488473

Consensus CDS

CCDS59280.1

UniProtKB/Swiss-Prot

Q8NG50

Related

ENSP00000479622.1, ENST00000617591.4

Conserved Domains (1) summary

cd12364
Location:10 → 72

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_001163125.1 → NP_001156597.1 RAD52 motif-containing protein 1 isoform 7

See identical proteins and their annotated locations for NP_001156597.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' and 3' UTRs and coding sequence and lacks an alternate internal coding exon compared to variant 1. The resulting isoform (7) has shorter and distinct N- and C-termini compared to isoform 1.

Source sequence(s)

AA761980, AC244100, AW138754

Consensus CDS

CCDS54108.1

UniProtKB/Swiss-Prot

Q8NG50

Related

ENSP00000480131.1, ENST00000615378.1

Conserved Domains (1) summary

cd12364
Location:10 → 72

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_001163130.1 → NP_001156602.1 RAD52 motif-containing protein 1 isoform 8

See identical proteins and their annotated locations for NP_001156602.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (8, also known as DeltaN-alpha) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AW138754, BX376188, EF488479

Consensus CDS

CCDS54109.1

UniProtKB/Swiss-Prot

Q8NG50

Related

ENSP00000479310.1, ENST00000619262.4

Conserved Domains (1) summary

cd12364
Location:10 → 72

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_001330194.2 → NP_001317123.1 RAD52 motif-containing protein 1 isoform 9

Status: REVIEWED

Source sequence(s)

AC244100

Consensus CDS

CCDS82109.1

UniProtKB/Swiss-Prot

Q8NG50

Related

ENSP00000482981.1, ENST00000619193.4

Conserved Domains (1) summary

cd12364
Location:15 → 95

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins
NM_145654.4 → NP_663629.1 RAD52 motif-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_663629.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform 1, also known as isoform alpha).

Source sequence(s)

AB080728, BU599050, BX376188

Consensus CDS

CCDS11301.1

UniProtKB/Swiss-Prot

A0JP55, A8MV46, A8MY68, A8MZ92, A8RCS5, A8RCT0, A8RCT5, A8RCT8, A8RCU3, A8RCU8, A8RCW0, A8RCW5, Q8NG50

Related

ENSP00000483549.1, ENST00000620284.5

Conserved Domains (1) summary

cd12364
Location:15 → 95

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins

RNA

NR_027996.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9, also known as delta) lacks two alternate coding exons compared to variant 1. The lack of one of the exons causes a frameshift and makes this transcript a candidate for nonsense-mediated mRNA decay (NMD), so it is not thought to encode a protein.

Source sequence(s)

BU599050, BX376188, EF488476
NR_027997.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (10, also known as beta) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD), so it is not thought to encode a protein.

Source sequence(s)

BU599050, BX376188, EF488474
NR_027998.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (11, also known as epsilon) lacks two alternate coding exons compared to variant 1. The lack of one of the exons causes a frameshift and makes this transcript a candidate for nonsense-mediated mRNA decay (NMD), so it is not thought to encode a protein.

Source sequence(s)

BU599050, BX376188, EF488477
NR_027999.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (12, also known as DeltaN-epsilon) differs in the 5' UTR and coding sequence and lacks two alternate coding exons compared to variant 1. The lack of one of the exons causes a frameshift and makes this transcript a candidate for nonsense-mediated mRNA decay (NMD), so it is not thought to encode a protein.

Source sequence(s)

AW138754, BX376188, EF488482
NR_028000.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13, also known as DeltaN-beta) differs in the 5' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD), so it is not thought to encode a protein.

Source sequence(s)

AW138754, BX376188, EF488480

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

35918080..35930773 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524509.3 → XP_011522811.1 RAD52 motif-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_011522811.1

Conserved Domains (1) summary

cd12364
Location:15 → 95

RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins