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

Gene ID: 201299, updated on 2-Nov-2024

Summary

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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

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See RDM1 in Genome Data Viewer
Location:
17q12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35918080..35930773, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36865987..36878680, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34245084..34257777, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 37, member A3 pseudogene Neighboring gene leucine-rich repeat-containing protein 37B-like Neighboring gene lysozyme like 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:34288003-34288221 Neighboring gene C-C motif chemokine ligand 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. 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.
  2. 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.
  3. RDM1 plays an oncogenic role in human ovarian carcinoma cells.
    Title: RDM1 plays an oncogenic role in human ovarian carcinoma cells.
  4. 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.
  5. RDM1 promotes critical processes in breast cancer tumorigenesis.
    Title: RDM1 promotes critical processes in breast cancer tumorigenesis.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
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 Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33977

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)

  1. NM_001034836.2 → NP_001030008.1  RAD52 motif-containing protein 1 isoform 2

    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

  2. NM_001163120.2 → NP_001156592.1  RAD52 motif-containing protein 1 isoform 3

    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

  3. NM_001163121.2 → NP_001156593.1  RAD52 motif-containing protein 1 isoform 4

    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

  4. NM_001163122.1 → NP_001156594.1  RAD52 motif-containing protein 1 isoform 5

    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

  5. NM_001163124.1 → NP_001156596.1  RAD52 motif-containing protein 1 isoform 6

    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

  6. NM_001163125.1 → NP_001156597.1  RAD52 motif-containing protein 1 isoform 7

    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

  7. NM_001163130.1 → NP_001156602.1  RAD52 motif-containing protein 1 isoform 8

    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

  8. 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

  9. NM_145654.4 → NP_663629.1  RAD52 motif-containing protein 1 isoform 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    35918080..35930773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cd12364
    Location:15 → 95
    RRM_RDM1; RNA recognition motif of RAD52 motif-containing protein 1 (RDM1) and similar proteins

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    152612..165305 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329276.1 → XP_054185251.1  RAD52 motif-containing protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    36865987..36878680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315413.1 → XP_054171388.1  RAD52 motif-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NG50.1 GenPept UniProtKB/Swiss-Prot:Q8NG50

Gene LinkOut

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