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Q9NQ50 (RM40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:MRPL40
Synonyms:NLVCF, URIM
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length206 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Mitochondrion By similarity.

Tissue specificity

Ubiquitous. Ref.1

Ontologies

Keywords
   Cellular componentMitochondrion
   Coding sequence diversityPolymorphism
   DomainTransit peptide
   Molecular functionRibonucleoprotein
Ribosomal protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentmitochondrial ribosome

Inferred from sequence or structural similarity. Source: UniProtKB

mitochondrion

Inferred from direct assay. Source: HPA

nucleolus

Inferred from direct assay. Source: HPA

nucleus

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functionpoly(A) RNA binding

Inferred from direct assay PubMed 22681889. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4646Mitochondrion By similarity
Chain47 – 20616039S ribosomal protein L40, mitochondrial
PRO_0000030558

Natural variations

Natural variant111L → P. Ref.1
Corresponds to variant rs1128399 [ dbSNP | Ensembl ].
VAR_061809
Natural variant1291R → H. Ref.1
Corresponds to variant rs7575 [ dbSNP | Ensembl ].
VAR_016088

Sequences

Sequence LengthMass (Da)Tools
Q9NQ50 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: AE6262A9A94B05FD

FASTA20624,490
        10         20         30         40         50         60 
MTASVLRSIS LALRPTSGLL GTWQTQLRET HQRASLLSFW ELIPMRSEPL RKKKKVDPKK 

        70         80         90        100        110        120 
DQEAKERLKR KIRKLEKATQ ELIPIEDFIT PLKFLDKARE RPQVELTFEE TERRALLLKK 

       130        140        150        160        170        180 
WSLYKQQERK MERDTIRAML EAQQEALEEL QLESPKLHAE AIKRDPNLFP FEKEGPHYTP 

       190        200 
PIPNYQPPEG RYNDITKVYT QVEFKR 

« Hide

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] [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]"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:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_003767.2. NM_003776.2.
UniGeneHs.431307.

3D structure databases

ProteinModelPortalQ9NQ50.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122364. 35 interactions.
IntActQ9NQ50. 5 interactions.
MINTMINT-6782189.
STRING9606.ENSP00000333401.

PTM databases

PhosphoSiteQ9NQ50.

Polymorphism databases

DMDM21263795.

Proteomic databases

PaxDbQ9NQ50.
PeptideAtlasQ9NQ50.
PRIDEQ9NQ50.

Protocols and materials databases

DNASU64976.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000333130; ENSP00000333401; ENSG00000185608.
GeneID64976.
KEGGhsa:64976.
UCSCuc002zpg.3. human.

Organism-specific databases

CTD64976.
GeneCardsGC22P019419.
HGNCHGNC:14491. MRPL40.
HPAHPA006181.
MIM605089. gene.
neXtProtNX_Q9NQ50.
PharmGKBPA30972.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331446.
HOGENOMHOG000015976.
HOVERGENHBG044505.
InParanoidQ9NQ50.
KOK17421.
OMAKWSLYKQ.
OrthoDBEOG71VSVJ.
PhylomeDBQ9NQ50.
TreeFamTF105982.

Gene expression databases

ArrayExpressQ9NQ50.
BgeeQ9NQ50.
CleanExHS_MRPL40.
GenevestigatorQ9NQ50.

Family and domain databases

InterProIPR019192. Ribosomal_L28/L40_mit.
[Graphical view]
PfamPF09812. MRP-L28. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMRPL40.
GenomeRNAi64976.
NextBio67160.
PROQ9NQ50.
SOURCESearch...

Entry information

Entry nameRM40_HUMAN
AccessionPrimary (citable) accession number: Q9NQ50
Secondary accession number(s): B3KVZ7, O95134
Entry history
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM