RDM1_HUMAN
ID RDM1_HUMAN Reviewed; 284 AA.
AC Q8NG50; A0JP55; A8MV46; A8MY68; A8MZ92; A8RCS5; A8RCT0; A8RCT5; A8RCT8;
AC A8RCU3; A8RCU8; A8RCW0; A8RCW5;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=RAD52 motif-containing protein 1;
DE AltName: Full=RAD52 homolog B;
GN Name=RDM1; Synonyms=RAD52B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=15611051; DOI=10.1074/jbc.m412874200;
RA Hamimes S., Arakawa H., Stasiak A.Z., Kierzek A.M., Hirano S., Yang Y.-G.,
RA Takata M., Stasiak A., Buerstedde J.M., Van Dyck E.;
RT "RDM1, a novel RNA recognition motif (RRM)-containing protein involved in
RT the cell response to cisplatin in vertebrates.";
RL J. Biol. Chem. 280:9225-9235(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11),
RP SUBCELLULAR LOCATION, INDUCTION, MUTAGENESIS OF 98-ARG--LYS-100 AND
RP 120-TYR--PHE-122, ALTERNATIVE PROMOTER USAGE, AND ALTERNATIVE SPLICING
RP (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11).
RX PubMed=17905820; DOI=10.1093/nar/gkm753;
RA Messaoudi L., Yang Y.-G., Kinomura A., Stavreva D.A., Yan G.,
RA Bortolin-Cavaille M.-L., Arakawa H., Buerstedde J.-M., Hainaut P.,
RA Cavaille J., Takata M., Van Dyck E.;
RT "Subcellular distribution of human RDM1 protein isoforms and their
RT nucleolar accumulation in response to heat shock and proteotoxic stress.";
RL Nucleic Acids Res. 35:6571-6587(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 12), AND VARIANTS
RP ARG-32 AND TRP-127.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May confer resistance to the antitumor agent cisplatin. Binds
CC to DNA and RNA. {ECO:0000269|PubMed:15611051}.
CC -!- SUBUNIT: Homodimer. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8NG50; Q2TAC2-2: CCDC57; NbExp=5; IntAct=EBI-10288724, EBI-10961624;
CC Q8NG50; P26441: CNTF; NbExp=3; IntAct=EBI-10288724, EBI-1050897;
CC Q8NG50; Q96HT8: MRFAP1L1; NbExp=3; IntAct=EBI-10288724, EBI-748896;
CC Q8NG50; P43351: RAD52; NbExp=5; IntAct=EBI-10288724, EBI-706448;
CC Q8NG50; Q9BWG6: SCNM1; NbExp=5; IntAct=EBI-10288724, EBI-748391;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17905820}. Cytoplasm
CC {ECO:0000269|PubMed:17905820}. Nucleus, nucleolus
CC {ECO:0000269|PubMed:17905820}. Note=Isoform 3 and isoform 10 are
CC predominantly nuclear and nucleolar. After treatment with proteasomal
CC inhibitors and mild heat-shock stress, isoform 1, isoform 3, isoform 5,
CC isoform 7, isoform 8 and isoform 10 are relocalized to the nucleolus as
CC dot-like or irregular subnuclear structures. Isoform 1 colocalized with
CC nuclear promyelocytic leukemia (PML) and Cajal bodies (CB); this
CC association with nuclear bodies is enhanced in response to proteotoxic
CC stress. Isoform 3, but not isoform 1 and isoform 5, is relocalized in
CC nucleolar caps during transcriptional arrest.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm. Nucleus, PML body.
CC Nucleus, Cajal body. Note=Isoform 1 is predominantly cytoplasmic.
CC Isoform 1 colocalized with nuclear promyelocytic leukemia (PML) and
CC Cajal bodies (CB); this association with nuclear bodies is enhanced in
CC response to proteotoxic stress.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative promoter usage, Alternative splicing; Named isoforms=12;
CC Name=1; Synonyms=RDM1alpha, Long N-terminal form;
CC IsoId=Q8NG50-1; Sequence=Displayed;
CC Name=2; Synonyms=DeltaN-RDM1alpha, Short N-terminal form;
CC IsoId=Q8NG50-2; Sequence=VSP_029648;
CC Name=3; Synonyms=RDM1beta;
CC IsoId=Q8NG50-3; Sequence=VSP_029653, VSP_029654;
CC Name=4; Synonyms=DeltaN-RDM1beta;
CC IsoId=Q8NG50-4; Sequence=VSP_029648, VSP_029653, VSP_029654;
CC Name=5; Synonyms=RDM1gamma;
CC IsoId=Q8NG50-5; Sequence=VSP_029655;
CC Name=6; Synonyms=DeltaN-RDM1gamma;
CC IsoId=Q8NG50-6; Sequence=VSP_029648, VSP_029655;
CC Name=7; Synonyms=RDM1delta;
CC IsoId=Q8NG50-7; Sequence=VSP_029649, VSP_029653, VSP_029654;
CC Name=8; Synonyms=RDM1epsilon;
CC IsoId=Q8NG50-8; Sequence=VSP_037151, VSP_029654;
CC Name=9; Synonyms=DeltaN-RDM1epsilon;
CC IsoId=Q8NG50-9; Sequence=VSP_029648, VSP_037151, VSP_029654;
CC Name=10; Synonyms=RDM1zeta;
CC IsoId=Q8NG50-10; Sequence=VSP_029650;
CC Name=11; Synonyms=DeltaN-RDM1zeta;
CC IsoId=Q8NG50-11; Sequence=VSP_029648, VSP_029650;
CC Name=12;
CC IsoId=Q8NG50-12; Sequence=VSP_044856;
CC -!- TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:15611051}.
CC -!- INDUCTION: Heat-shock stress up-regulated mRNA expression of isoform 10
CC and isoform 11. Heat-shock stress down-regulated short N-terminal mRNA
CC expression of isoform 2, isoform 4, isoform 6 and isoform 9.
CC {ECO:0000269|PubMed:17905820}.
CC -!- DOMAIN: C-terminal half (amino acids 134-284) contains cytoplasmic
CC retention domains as well as determinants involved in its stress-
CC induced nucleolar accumulation.
CC -!- MISCELLANEOUS: [Isoform 1]: Produced by alternative promoter usage.
CC -!- MISCELLANEOUS: [Isoform 2]: Produced by alternative promoter usage.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: Produced by alternative splicing of isoform
CC 1. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 4]: Produced by alternative splicing of isoform
CC 2. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 5]: Produced by alternative splicing of isoform
CC 1. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 6]: Produced by alternative splicing of isoform
CC 2. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 7]: Produced by alternative splicing of isoform
CC 1. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 8]: Produced by alternative splicing of isoform
CC 1. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 9]: Produced by alternative splicing of isoform
CC 2. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 10]: Produced by alternative splicing of
CC isoform 1. In cells exposed to a mild heat schock. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 11]: Produced by alternative splicing of
CC isoform 2. In cells exposed to a mild heat schock. {ECO:0000305}.
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DR EMBL; AB080728; BAC02562.1; -; mRNA.
DR EMBL; EF488473; ABS86950.1; -; mRNA.
DR EMBL; EF488474; ABS86951.1; -; mRNA.
DR EMBL; EF488475; ABS86952.1; -; mRNA.
DR EMBL; EF488476; ABS86953.1; -; mRNA.
DR EMBL; EF488477; ABS86954.1; -; mRNA.
DR EMBL; EF488478; ABS86955.1; -; mRNA.
DR EMBL; EF488479; ABS86956.1; -; mRNA.
DR EMBL; EF488480; ABS86957.1; -; mRNA.
DR EMBL; EF488481; ABS86958.1; -; mRNA.
DR EMBL; EF488482; ABS86959.1; -; mRNA.
DR EMBL; AC004675; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC015849; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC038301; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC127190; AAI27191.1; -; mRNA.
DR EMBL; BM559857; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS11301.1; -. [Q8NG50-1]
DR CCDS; CCDS42299.1; -. [Q8NG50-12]
DR CCDS; CCDS54108.1; -. [Q8NG50-4]
DR CCDS; CCDS54109.1; -. [Q8NG50-2]
DR CCDS; CCDS54110.1; -. [Q8NG50-10]
DR CCDS; CCDS54111.1; -. [Q8NG50-5]
DR CCDS; CCDS59280.1; -. [Q8NG50-11]
DR CCDS; CCDS59281.1; -. [Q8NG50-6]
DR CCDS; CCDS82109.1; -. [Q8NG50-3]
DR RefSeq; NP_001030008.1; NM_001034836.1. [Q8NG50-12]
DR RefSeq; NP_001156592.1; NM_001163120.1. [Q8NG50-10]
DR RefSeq; NP_001156593.1; NM_001163121.1. [Q8NG50-5]
DR RefSeq; NP_001156594.1; NM_001163122.1. [Q8NG50-6]
DR RefSeq; NP_001156596.1; NM_001163124.1. [Q8NG50-11]
DR RefSeq; NP_001156597.1; NM_001163125.1. [Q8NG50-4]
DR RefSeq; NP_001156602.1; NM_001163130.1. [Q8NG50-2]
DR RefSeq; NP_001317123.1; NM_001330194.1. [Q8NG50-3]
DR RefSeq; NP_663629.1; NM_145654.3. [Q8NG50-1]
DR AlphaFoldDB; Q8NG50; -.
DR BioGRID; 128384; 7.
DR IntAct; Q8NG50; 7.
DR STRING; 9606.ENSP00000483549; -.
DR iPTMnet; Q8NG50; -.
DR PhosphoSitePlus; Q8NG50; -.
DR BioMuta; RDM1; -.
DR DMDM; 74762574; -.
DR MassIVE; Q8NG50; -.
DR PaxDb; Q8NG50; -.
DR PeptideAtlas; Q8NG50; -.
DR PRIDE; Q8NG50; -.
DR Antibodypedia; 73933; 117 antibodies from 22 providers.
DR DNASU; 201299; -.
DR Ensembl; ENST00000611538.4; ENSP00000478597.1; ENSG00000276432.4. [Q8NG50-10]
DR Ensembl; ENST00000612980.4; ENSP00000483387.1; ENSG00000278023.7. [Q8NG50-10]
DR Ensembl; ENST00000613308.4; ENSP00000482288.1; ENSG00000278023.7. [Q8NG50-12]
DR Ensembl; ENST00000613554.2; ENSP00000481726.1; ENSG00000276432.4. [Q8NG50-4]
DR Ensembl; ENST00000615024.4; ENSP00000481648.1; ENSG00000278023.7. [Q8NG50-4]
DR Ensembl; ENST00000615288.4; ENSP00000477869.1; ENSG00000278023.7. [Q8NG50-8]
DR Ensembl; ENST00000615378.1; ENSP00000480131.1; ENSG00000278023.7. [Q8NG50-4]
DR Ensembl; ENST00000616596.4; ENSP00000478915.1; ENSG00000278023.7. [Q8NG50-5]
DR Ensembl; ENST00000616735.4; ENSP00000483566.1; ENSG00000276432.4. [Q8NG50-5]
DR Ensembl; ENST00000617591.4; ENSP00000479622.1; ENSG00000278023.7. [Q8NG50-11]
DR Ensembl; ENST00000618461.4; ENSP00000481061.1; ENSG00000276432.4. [Q8NG50-1]
DR Ensembl; ENST00000618511.4; ENSP00000477995.1; ENSG00000278023.7. [Q8NG50-9]
DR Ensembl; ENST00000619193.4; ENSP00000482981.1; ENSG00000278023.7. [Q8NG50-3]
DR Ensembl; ENST00000619262.4; ENSP00000479310.1; ENSG00000278023.7. [Q8NG50-2]
DR Ensembl; ENST00000619368.4; ENSP00000478131.1; ENSG00000278023.7. [Q8NG50-7]
DR Ensembl; ENST00000619828.4; ENSP00000483933.1; ENSG00000278023.7. [Q8NG50-6]
DR Ensembl; ENST00000620284.5; ENSP00000483549.1; ENSG00000278023.7. [Q8NG50-1]
DR Ensembl; ENST00000632131.1; ENSP00000487602.1; ENSG00000276432.4. [Q8NG50-3]
DR Ensembl; ENST00000632857.1; ENSP00000488876.1; ENSG00000276432.4. [Q8NG50-2]
DR Ensembl; ENST00000632922.1; ENSP00000488806.1; ENSG00000276432.4. [Q8NG50-11]
DR Ensembl; ENST00000632931.1; ENSP00000487935.1; ENSG00000276432.4. [Q8NG50-12]
DR Ensembl; ENST00000633122.1; ENSP00000488617.1; ENSG00000276432.4. [Q8NG50-6]
DR Ensembl; ENST00000633612.1; ENSP00000488160.1; ENSG00000276432.4. [Q8NG50-9]
DR Ensembl; ENST00000633984.1; ENSP00000488583.1; ENSG00000276432.4. [Q8NG50-8]
DR Ensembl; ENST00000634031.1; ENSP00000487863.1; ENSG00000276432.4. [Q8NG50-7]
DR Ensembl; ENST00000634177.1; ENSP00000487670.1; ENSG00000276432.4. [Q8NG50-4]
DR GeneID; 201299; -.
DR KEGG; hsa:201299; -.
DR MANE-Select; ENST00000620284.5; ENSP00000483549.1; NM_145654.4; NP_663629.1.
DR UCSC; uc002hkg.5; human. [Q8NG50-1]
DR CTD; 201299; -.
DR DisGeNET; 201299; -.
DR GeneCards; RDM1; -.
DR HGNC; HGNC:19950; RDM1.
DR HPA; ENSG00000278023; Tissue enriched (testis).
DR MIM; 612896; gene.
DR neXtProt; NX_Q8NG50; -.
DR OpenTargets; ENSG00000278023; -.
DR PharmGKB; PA134932526; -.
DR VEuPathDB; HostDB:ENSG00000278023; -.
DR eggNOG; ENOG502RXM9; Eukaryota.
DR GeneTree; ENSGT00390000018397; -.
DR HOGENOM; CLU_2120275_0_0_1; -.
DR InParanoid; Q8NG50; -.
DR OMA; PAYECRS; -.
DR OrthoDB; 1475838at2759; -.
DR PhylomeDB; Q8NG50; -.
DR TreeFam; TF101222; -.
DR PathwayCommons; Q8NG50; -.
DR SignaLink; Q8NG50; -.
DR BioGRID-ORCS; 201299; 70 hits in 1071 CRISPR screens.
DR GenomeRNAi; 201299; -.
DR Pharos; Q8NG50; Tbio.
DR PRO; PR:Q8NG50; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8NG50; protein.
DR Bgee; ENSG00000278023; Expressed in right testis and 94 other tissues.
DR ExpressionAtlas; Q8NG50; baseline and differential.
DR Genevisible; Q8NG50; HS.
DR GO; GO:0015030; C:Cajal body; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0016605; C:PML body; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR CDD; cd12364; RRM_RDM1; 1.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR040224; RDM1.
DR InterPro; IPR034200; RDM1_RRM.
DR InterPro; IPR000504; RRM_dom.
DR PANTHER; PTHR31164; PTHR31164; 1.
DR Pfam; PF00076; RRM_1; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW Alternative promoter usage; Alternative splicing; Cytoplasm; DNA-binding;
KW Nucleus; Reference proteome; RNA-binding.
FT CHAIN 1..284
FT /note="RAD52 motif-containing protein 1"
FT /id="PRO_0000299528"
FT DOMAIN 15..98
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 1..92
FT /note="Necessary for nuclear localization and for nucleolar
FT accumulation in response to heat shock"
FT REGION 90..133
FT /note="Necessary for nuclear and nucleolar localization"
FT VAR_SEQ 1..32
FT /note="MAELVPFAVPIESDKTLLVWELSSGPTAEALH -> MHLLVPPPQ (in
FT isoform 2, isoform 4, isoform 6, isoform 9 and isoform 11)"
FT /evidence="ECO:0000303|PubMed:17905820"
FT /id="VSP_029648"
FT VAR_SEQ 33..92
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:17905820"
FT /id="VSP_029649"
FT VAR_SEQ 134..251
FT /note="Missing (in isoform 10 and isoform 11)"
FT /evidence="ECO:0000303|PubMed:17905820"
FT /id="VSP_029650"
FT VAR_SEQ 134..139
FT /note="LQELSD -> DHYHSL (in isoform 3, isoform 4 and
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:17905820"
FT /id="VSP_029653"
FT VAR_SEQ 134..139
FT /note="LQELSD -> KVVK (in isoform 8 and isoform 9)"
FT /evidence="ECO:0000303|PubMed:17905820"
FT /id="VSP_037151"
FT VAR_SEQ 140..284
FT /note="Missing (in isoform 3, isoform 4, isoform 7, isoform
FT 8 and isoform 9)"
FT /evidence="ECO:0000303|PubMed:17905820"
FT /id="VSP_029654"
FT VAR_SEQ 190..222
FT /note="Missing (in isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:17905820"
FT /id="VSP_029655"
FT VAR_SEQ 223..284
FT /note="ESGKIAVEYRPSEDIVGVRCEEELHGLIQVPCSPWKQYGQEEEGYLSDFSLE
FT EEEFRLPELD -> GKTVLIILEVLQFQ (in isoform 12)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044856"
FT VARIANT 32
FT /note="H -> R (in dbSNP:rs2280786)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034835"
FT VARIANT 127
FT /note="C -> W (in dbSNP:rs2251660)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034836"
FT MUTAGEN 98..100
FT /note="RHK->AAA: Reduces its nuclear and nucleolar
FT accumulation. Increases its cytoplasmic accumulation."
FT /evidence="ECO:0000269|PubMed:17905820"
FT MUTAGEN 120..122
FT /note="YYF->AAA: Does not affect its subcellular
FT distribution."
FT /evidence="ECO:0000269|PubMed:17905820"
FT CONFLICT 121
FT /note="Y -> C (in Ref. 2; BC038301)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 284 AA; 31970 MW; F0C241F094C447E9 CRC64;
MAELVPFAVP IESDKTLLVW ELSSGPTAEA LHHSLFTAFS QFGLLYSVRV FPNAAVAHPG
FYAVIKFYSA RAAHRAQKAC DRKQLFQKSP VKVRLGTRHK AVQHQALALN SSKCQELANY
YFGFNGCSKR IIKLQELSDL EERENEDSMV PLPKQSLKFF CALEVVLPSC DCRSPGIGLV
EEPMDKVEEG PLSFLMKRKT AQKLAIQKAL SDAFQKLLIV VLESGKIAVE YRPSEDIVGV
RCEEELHGLI QVPCSPWKQY GQEEEGYLSD FSLEEEEFRL PELD
