Reviewed,
UniProtKB/Swiss-Prot Q9NQ50 (RM40_HUMAN)
Last modified
June 16, 2009.
Version 62.
History...
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: 39S ribosomal protein L40, mitochondrial Short name=L40mt Short name=MRP-L40 Alternative name(s): Nuclear localization signal-containing protein deleted in velocardiofacial syndrome Up-regulated in metastasis | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 206 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | Mitochondrion By similarity. |
| Tissue specificity | Ubiquitous. Ref.1 |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Mitochondrion |
| Coding sequence diversity | Polymorphism |
| Domain | Transit peptide |
| Molecular function | Ribonucleoprotein Ribosomal protein |
| Gene Ontology (GO) | |
| Biological process | anatomical structure morphogenesis Ref.1 Traceable author statement. Source: ProtInc |
| Cellular component | mitochondrial ribosome Inferred from sequence or structural similarity. Source: UniProtKB nucleus Ref.1Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 46 | 46 | Mitochondrion By similarity | ||||||
| Chain | 47 – 206 | 160 | 39S ribosomal protein L40, mitochondrial | PRO_0000030558 | |||||
Natural variations | |||||||||
| Natural variant | 129 | 1 | R → H: dbSNP rs7575. Ref.1 | VAR_016088 | |||||
Experimental info | |||||||||
| Sequence conflict | 11 | 1 | L → P in AAC70904. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11." Funke B., Puech A., Saint-Jore B., Pandita R., Skoultchi A., Morrow B. Genomics 53:146-154(1998) [PubMed: 9790763] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HIS-129, TISSUE SPECIFICITY. |
| [2] | "Identification of URIM, a novel gene up-regulated in metastasis." Hildebrandt T., Weidle U.H., Preiherr J., van Muijen G.N.P., Klostermann S., Kaul S., Zendman A.J.W. Anticancer Res. 19:525-530(1999) [PubMed: 10226592] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:RESEARCH84.1-RESEARCH84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung. |
| [5] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AF034091 mRNA. Translation: AAC70904.1. AJ295637 mRNA. Translation: CAC00535.1. CR456532 mRNA. Translation: CAG30418.1. BC009707 mRNA. Translation: AAH09707.1. | |
| IPI | IPI00099871. |
| RefSeq | NP_003767.2. |
| UniGene | Hs.431307 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9NQ50. 1 interaction. |
Proteomic databases | |
| PeptideAtlas | Q9NQ50. |
Genome annotation databases | |
| Ensembl | ENSG00000185608. Homo sapiens. [Contig view] |
| GeneID | 64976. |
| KEGG | hsa:64976. |
| NMPDR | fig|9606.3.peg.21227. |
Organism-specific databases | |
| GeneCards | GC22P017793. |
| H-InvDB | HIX0016235. |
| HGNC | HGNC:14491. MRPL40. |
| HPA | CAB010069. HPA006181. |
| MIM | 605089. gene. |
| PharmGKB | PA30972. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9NQ50. |
| HOVERGEN | Q9NQ50. |
| OMA | Q9NQ50. KKWSLYK. |
Gene expression databases | |
| ArrayExpress | Q9NQ50. |
| Bgee | Q9NQ50. |
| CleanEx | HS_MRPL40. |
| GermOnline | ENSG00000185608. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019192. Ribosomal_L28_mit. [Graphical view] |
| Pfam | PF09812. MRP-L28. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 67160. |
| SOURCE | Search... |
Entry information
| Entry name | RM40_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NQ50 Secondary accession number(s): O95134 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: 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 |

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