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Q9NQ50

- RM40_HUMAN

UniProt

Q9NQ50 - RM40_HUMAN

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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

Functioni

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ribonucleoprotein, Ribosomal protein

Enzyme and pathway databases

ReactomeiREACT_267602. Mitochondrial translation termination.
REACT_267677. Mitochondrial translation elongation.
REACT_267680. Mitochondrial translation initiation.

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
Complete GO annotation...

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

BgeeiQ9NQ50.
CleanExiHS_MRPL40.
GenevestigatoriQ9NQ50.

Organism-specific databases

HPAiHPA006181.

Interactioni

Protein-protein interaction databases

BioGridi122364. 44 interactions.
IntActiQ9NQ50. 6 interactions.
MINTiMINT-6782189.
STRINGi9606.ENSP00000333401.

Structurei

3D structure databases

ProteinModelPortaliQ9NQ50.
SMRiQ9NQ50. Positions 88-186.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG331446.
GeneTreeiENSGT00390000010239.
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

        10         20         30         40         50
MTASVLRSIS LALRPTSGLL GTWQTQLRET HQRASLLSFW ELIPMRSEPL
60 70 80 90 100
RKKKKVDPKK DQEAKERLKR KIRKLEKATQ ELIPIEDFIT PLKFLDKARE
110 120 130 140 150
RPQVELTFEE TERRALLLKK WSLYKQQERK MERDTIRAML EAQQEALEEL
160 170 180 190 200
QLESPKLHAE AIKRDPNLFP FEKEGPHYTP PIPNYQPPEG RYNDITKVYT

QVEFKR
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
SMRi Q9NQ50. Positions 88-186.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122364. 44 interactions.
IntActi Q9NQ50. 6 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.
GeneTreei ENSGT00390000010239.
HOGENOMi HOG000015976.
HOVERGENi HBG044505.
InParanoidi Q9NQ50.
KOi K17421.
OMAi LYKQQEH.
OrthoDBi EOG71VSVJ.
PhylomeDBi Q9NQ50.
TreeFami TF105982.

Enzyme and pathway databases

Reactomei REACT_267602. Mitochondrial translation termination.
REACT_267677. Mitochondrial translation elongation.
REACT_267680. Mitochondrial translation initiation.

Miscellaneous databases

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

Gene expression databases

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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 108 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