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Q9NQ50

- RM40_HUMAN

UniProt

Q9NQ50 - RM40_HUMAN

Protein

39S ribosomal protein L40, mitochondrial

Gene

MRPL40

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc

    Keywords - Molecular functioni

    Ribonucleoprotein, Ribosomal protein

    Names & Taxonomyi

    Protein namesi
    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 namesi
    Name:MRPL40
    Synonyms:NLVCF, URIM
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:14491. MRPL40.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. mitochondrial ribosome Source: UniProtKB
    2. mitochondrion Source: HPA
    3. nucleolus Source: HPA
    4. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30972.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4646MitochondrionBy similarityAdd
    BLAST
    Chaini47 – 20616039S ribosomal protein L40, mitochondrialPRO_0000030558Add
    BLAST

    Proteomic databases

    MaxQBiQ9NQ50.
    PaxDbiQ9NQ50.
    PeptideAtlasiQ9NQ50.
    PRIDEiQ9NQ50.

    PTM databases

    PhosphoSiteiQ9NQ50.

    Expressioni

    Tissue specificityi

    Ubiquitous.1 Publication

    Gene expression databases

    ArrayExpressiQ9NQ50.
    BgeeiQ9NQ50.
    CleanExiHS_MRPL40.
    GenevestigatoriQ9NQ50.

    Organism-specific databases

    HPAiHPA006181.

    Interactioni

    Protein-protein interaction databases

    BioGridi122364. 35 interactions.
    IntActiQ9NQ50. 5 interactions.
    MINTiMINT-6782189.
    STRINGi9606.ENSP00000333401.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQ50.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiNOG331446.
    HOGENOMiHOG000015976.
    HOVERGENiHBG044505.
    InParanoidiQ9NQ50.
    KOiK17421.
    OMAiLYKQQEH.
    OrthoDBiEOG71VSVJ.
    PhylomeDBiQ9NQ50.
    TreeFamiTF105982.

    Family and domain databases

    InterProiIPR019192. Ribosomal_L28/L40_mit.
    [Graphical view]
    PfamiPF09812. MRP-L28. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9NQ50-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTASVLRSIS LALRPTSGLL GTWQTQLRET HQRASLLSFW ELIPMRSEPL    50
    RKKKKVDPKK DQEAKERLKR KIRKLEKATQ ELIPIEDFIT PLKFLDKARE 100
    RPQVELTFEE TERRALLLKK WSLYKQQERK MERDTIRAML EAQQEALEEL 150
    QLESPKLHAE AIKRDPNLFP FEKEGPHYTP PIPNYQPPEG RYNDITKVYT 200
    QVEFKR 206
    Length:206
    Mass (Da):24,490
    Last modified:October 1, 2000 - v1
    Checksum:iAE6262A9A94B05FD
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111L → P.1 Publication
    Corresponds to variant rs1128399 [ dbSNP | Ensembl ].
    VAR_061809
    Natural varianti129 – 1291R → H.1 Publication
    Corresponds to variant rs7575 [ dbSNP | Ensembl ].
    VAR_016088

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF034091 mRNA. Translation: AAC70904.1.
    AJ295637 mRNA. Translation: CAC00535.1.
    CR456532 mRNA. Translation: CAG30418.1.
    AK123768 mRNA. Translation: BAG53959.1.
    CH471176 Genomic DNA. Translation: EAX03042.1.
    BC009707 mRNA. Translation: AAH09707.1.
    CCDSiCCDS13760.1.
    RefSeqiNP_003767.2. NM_003776.2.
    UniGeneiHs.431307.

    Genome annotation databases

    EnsembliENST00000333130; ENSP00000333401; ENSG00000185608.
    GeneIDi64976.
    KEGGihsa:64976.
    UCSCiuc002zpg.3. human.

    Polymorphism databases

    DMDMi21263795.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF034091 mRNA. Translation: AAC70904.1 .
    AJ295637 mRNA. Translation: CAC00535.1 .
    CR456532 mRNA. Translation: CAG30418.1 .
    AK123768 mRNA. Translation: BAG53959.1 .
    CH471176 Genomic DNA. Translation: EAX03042.1 .
    BC009707 mRNA. Translation: AAH09707.1 .
    CCDSi CCDS13760.1.
    RefSeqi NP_003767.2. NM_003776.2.
    UniGenei Hs.431307.

    3D structure databases

    ProteinModelPortali Q9NQ50.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122364. 35 interactions.
    IntActi Q9NQ50. 5 interactions.
    MINTi MINT-6782189.
    STRINGi 9606.ENSP00000333401.

    PTM databases

    PhosphoSitei Q9NQ50.

    Polymorphism databases

    DMDMi 21263795.

    Proteomic databases

    MaxQBi Q9NQ50.
    PaxDbi Q9NQ50.
    PeptideAtlasi Q9NQ50.
    PRIDEi Q9NQ50.

    Protocols and materials databases

    DNASUi 64976.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000333130 ; ENSP00000333401 ; ENSG00000185608 .
    GeneIDi 64976.
    KEGGi hsa:64976.
    UCSCi uc002zpg.3. human.

    Organism-specific databases

    CTDi 64976.
    GeneCardsi GC22P019419.
    HGNCi HGNC:14491. MRPL40.
    HPAi HPA006181.
    MIMi 605089. gene.
    neXtProti NX_Q9NQ50.
    PharmGKBi PA30972.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG331446.
    HOGENOMi HOG000015976.
    HOVERGENi HBG044505.
    InParanoidi Q9NQ50.
    KOi K17421.
    OMAi LYKQQEH.
    OrthoDBi EOG71VSVJ.
    PhylomeDBi Q9NQ50.
    TreeFami TF105982.

    Miscellaneous databases

    GeneWikii MRPL40.
    GenomeRNAii 64976.
    NextBioi 67160.
    PROi Q9NQ50.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQ50.
    Bgeei Q9NQ50.
    CleanExi HS_MRPL40.
    Genevestigatori Q9NQ50.

    Family and domain databases

    InterProi IPR019192. Ribosomal_L28/L40_mit.
    [Graphical view ]
    Pfami PF09812. MRP-L28. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS PRO-11 AND HIS-129.
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Lung.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiRM40_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQ50
    Secondary accession number(s): B3KVZ7, O95134
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 27, 2002
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 106 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3