Q8NG50 (RDM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 88.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: RAD52 motif-containing protein 1 Alternative name(s): RAD52 homolog B | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 284 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA. Ref.1 |
| Subunit structure | Homodimer By similarity. |
| Subcellular location | Nucleus. Cytoplasm. Nucleus › nucleolus. Note: Isoform 3 and isoform 10 are predominantly nuclear and nucleolar. After treatment with proteasomal inhibitors and mild heat-shock stress, isoform 1, isoform 3, isoform 5, isoform 7, isoform 8 and isoform 10 are relocalized to the nucleolus as dot-like or irregular subnuclear structures. Isoform 1 colocalized with nuclear promyelocytic leukemia (PML) and Cajal bodies (CB); this association with nuclear bodies is enhanced in response to proteotoxic stress. Isoform 3, but not isoform 1 and isoform 5, is relocalized in nucleolar caps during transcriptional arrest. Ref.2 Isoform 1: Cytoplasm. Nucleus › PML body. Nucleus › Cajal body. Note: Isoform 1 is predominantly cytoplasmic. Isoform 1 colocalized with nuclear promyelocytic leukemia (PML) and Cajal bodies (CB); this association with nuclear bodies is enhanced in response to proteotoxic stress. Ref.2 |
| Tissue specificity | Expressed in testis. Ref.1 |
| Induction | Heat-shock stress up-regulated mRNA expression of isoform 10 and isoform 11. Heat-shock stress down-regulated short N-terminal mRNA expression of isoform 2, isoform 4, isoform 6 and isoform 9. Ref.2 |
| Domain | C-terminal half (amino acids 134-284) contains cytoplasmic retention domains as well as determinants involved in its stress-induced nucleolar accumulation. |
| Sequence similarities | Contains 1 RRM (RNA recognition motif) domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative promoter usage Alternative splicing Polymorphism |
| Ligand | DNA-binding RNA-binding |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | DNA recombination Inferred from electronic annotation. Source: InterPro DNA repairInferred from electronic annotation. Source: InterPro |
| Cellular_component | Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell PML bodyInferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmInferred from direct assay. Source: HPA nucleolusInferred from direct assay. Source: HPA |
| Molecular_function | DNA binding Inferred from electronic annotation. Source: UniProtKB-KW RNA bindingInferred from electronic annotation. Source: UniProtKB-KW nucleotide bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 12 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NG50-1) Also known as: RDM1alpha; Long N-terminal form; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Note: Produced by alternative promoter usage. | ||||||
| Isoform 2 (identifier: Q8NG50-2) Also known as: DeltaN-RDM1alpha; Short N-terminal form; The sequence of this isoform differs from the canonical sequence as follows: 1-32: MAELVPFAVPIESDKTLLVWELSSGPTAEALH → MHLLVPPPQ | ||||||
| Note: Produced by alternative promoter usage. | ||||||
| Isoform 3 (identifier: Q8NG50-3) Also known as: RDM1beta; The sequence of this isoform differs from the canonical sequence as follows: 134-139: LQELSD → DHYHSL 140-284: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 1. | ||||||
| Isoform 4 (identifier: Q8NG50-4) Also known as: DeltaN-RDM1beta; The sequence of this isoform differs from the canonical sequence as follows: 1-32: MAELVPFAVPIESDKTLLVWELSSGPTAEALH → MHLLVPPPQ 134-139: LQELSD → DHYHSL 140-284: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 2. | ||||||
| Isoform 5 (identifier: Q8NG50-5) Also known as: RDM1gamma; The sequence of this isoform differs from the canonical sequence as follows: 190-222: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 1. | ||||||
| Isoform 6 (identifier: Q8NG50-6) Also known as: DeltaN-RDM1gamma; The sequence of this isoform differs from the canonical sequence as follows: 1-32: MAELVPFAVPIESDKTLLVWELSSGPTAEALH → MHLLVPPPQ 190-222: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 2. | ||||||
| Isoform 7 (identifier: Q8NG50-7) Also known as: RDM1delta; The sequence of this isoform differs from the canonical sequence as follows: 33-92: Missing. 134-139: LQELSD → DHYHSL 140-284: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 1. | ||||||
| Isoform 8 (identifier: Q8NG50-8) Also known as: RDM1epsilon; The sequence of this isoform differs from the canonical sequence as follows: 134-139: LQELSD → KVVK 140-284: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 1. | ||||||
| Isoform 9 (identifier: Q8NG50-9) Also known as: DeltaN-RDM1epsilon; The sequence of this isoform differs from the canonical sequence as follows: 1-32: MAELVPFAVPIESDKTLLVWELSSGPTAEALH → MHLLVPPPQ 134-139: LQELSD → KVVK 140-284: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 2. | ||||||
| Isoform 10 (identifier: Q8NG50-10) Also known as: RDM1zeta; The sequence of this isoform differs from the canonical sequence as follows: 134-251: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 1. In cells exposed to a mild heat schock. | ||||||
| Isoform 11 (identifier: Q8NG50-11) Also known as: DeltaN-RDM1zeta; The sequence of this isoform differs from the canonical sequence as follows: 1-32: MAELVPFAVPIESDKTLLVWELSSGPTAEALH → MHLLVPPPQ 134-251: Missing. | ||||||
| Note: Produced by alternative splicing of isoform 2. In cells exposed to a mild heat schock. | ||||||
| Isoform 12 (identifier: Q8NG50-12) The sequence of this isoform differs from the canonical sequence as follows: 223-284: ESGKIAVEYR...EEEFRLPELD → GKTVLIILEVLQFQ | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 284 | 284 | RAD52 motif-containing protein 1 | PRO_0000299528 | |||||
Regions | |||||||||
| Domain | 15 – 98 | 84 | RRM | ||||||
| Region | 1 – 92 | 92 | Necessary for nuclear localization and for nucleolar accumulation in response to heat shock | ||||||
| Region | 90 – 133 | 44 | Necessary for nuclear and nucleolar localization | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 32 | 32 | MAELV…AEALH → MHLLVPPPQ in isoform 2, isoform 4, isoform 6, isoform 9 and isoform 11. | VSP_029648 | |||||
| Alternative sequence | 33 – 92 | 60 | Missing in isoform 7. | VSP_029649 | |||||
| Alternative sequence | 134 – 251 | 118 | Missing in isoform 10 and isoform 11. | VSP_029650 | |||||
| Alternative sequence | 134 – 139 | 6 | LQELSD → DHYHSL in isoform 3, isoform 4 and isoform 7. | VSP_029653 | |||||
| Alternative sequence | 134 – 139 | 6 | LQELSD → KVVK in isoform 8 and isoform 9. | VSP_037151 | |||||
| Alternative sequence | 140 – 284 | 145 | Missing in isoform 3, isoform 4, isoform 7, isoform 8 and isoform 9. | VSP_029654 | |||||
| Alternative sequence | 190 – 222 | 33 | Missing in isoform 5 and isoform 6. | VSP_029655 | |||||
| Alternative sequence | 223 – 284 | 62 | ESGKI…LPELD → GKTVLIILEVLQFQ in isoform 12. | VSP_044856 | |||||
| Natural variant | 32 | 1 | H → R. Ref.4 Corresponds to variant rs2280786 [ dbSNP | Ensembl ]. | VAR_034835 | |||||
| Natural variant | 127 | 1 | C → W. Ref.4 Corresponds to variant rs2251660 [ dbSNP | Ensembl ]. | VAR_034836 | |||||
Experimental info | |||||||||
| Mutagenesis | 98 – 100 | 3 | RHK → AAA: Reduces its nuclear and nucleolar accumulation. Increases its cytoplasmic accumulation. Ref.2 | ||||||
| Mutagenesis | 120 – 122 | 3 | YYF → AAA: Does not affect its subcellular distribution. Ref.2 | ||||||
| Sequence conflict | 121 | 1 | Y → C in BC038301. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "RDM1, a novel RNA recognition motif (RRM)-containing protein involved in the cell response to cisplatin in vertebrates." Hamimes S., Arakawa H., Stasiak A.Z., Kierzek A.M., Hirano S., Yang Y.-G., Takata M., Stasiak A., Buerstedde J.M., Van Dyck E. J. Biol. Chem. 280:9225-9235(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY. |
| [2] | "Subcellular distribution of human RDM1 protein isoforms and their nucleolar accumulation in response to heat shock and proteotoxic stress." Messaoudi L., Yang Y.-G., Kinomura A., Stavreva D.A., Yan G., Bortolin-Cavaille M.-L., Arakawa H., Buerstedde J.-M., Hainaut P., Cavaille J., Takata M., Van Dyck E. Nucleic Acids Res. 35:6571-6587(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11), SUBCELLULAR LOCATION, INDUCTION, MUTAGENESIS OF 98-ARG--LYS-100 AND 120-TYR--PHE-122, ALTERNATIVE PROMOTER USAGE, ALTERNATIVE SPLICING (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11). |
| [3] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 12), VARIANTS ARG-32 AND TRP-127. |
Cross-references
Entry information
| Entry name | RDM1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NG50 Secondary accession number(s): A0JP55 A8RCW5 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
