Q9NQ50 (RM40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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

Name:	MRPL40
Synonyms:	NLVCF, URIM

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anatomical structure morphogenesis Traceable author statement Ref.1. Source: ProtInc
Cellular_component	mitochondrial ribosome Inferred from sequence or structural similarity. Source: UniProtKB nucleus Traceable author statement Ref.1. 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	11	1	L → P. Ref.1 Corresponds to variant rs1128399 [ dbSNP | Ensembl ].		VAR_061809
	Natural variant	129	1	R → H. Ref.1 Corresponds to variant rs7575 [ dbSNP | Ensembl ].		VAR_016088

Sequences

	Sequence		Length	Mass (Da)
	Q9NQ50 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: AE6262A9A94B05FD	FASTA	206	24,490
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00099871.
RefSeq	NP_003767.2. NM_003776.2.
UniGene	Hs.431307.
3D structure databases
ProteinModelPortal	Q9NQ50.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NQ50. 2 interactions.
STRING	9606.ENSP00000333401.
PTM databases
PhosphoSite	Q9NQ50.
Polymorphism databases
DMDM	21263795.
Proteomic databases
PaxDb	Q9NQ50.
PeptideAtlas	Q9NQ50.
PRIDE	Q9NQ50.
Protocols and materials databases
DNASU	64976.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000333130; ENSP00000333401; ENSG00000185608.
GeneID	64976.
KEGG	hsa:64976.
UCSC	uc002zpg.3. human.
Organism-specific databases
CTD	64976.
GeneCards	GC22P019419.
HGNC	HGNC:14491. MRPL40.
HPA	HPA006181.
MIM	605089. gene.
neXtProt	NX_Q9NQ50.
PharmGKB	PA30972.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG331446.
HOGENOM	HOG000015976.
HOVERGEN	HBG044505.
InParanoid	Q9NQ50.
OMA	KWSLYKQ.
OrthoDB	EOG4JM7QW.
PhylomeDB	Q9NQ50.
Gene expression databases
ArrayExpress	Q9NQ50.
Bgee	Q9NQ50.
CleanEx	HS_MRPL40.
Genevestigator	Q9NQ50.
GermOnline	ENSG00000185608. Homo sapiens.
Family and domain databases
InterPro	IPR019192. Ribosomal_L28/L40_mit. [Graphical view]
Pfam	PF09812. MRP-L28. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64976.
NextBio	67160.
SOURCE	Search...

Entry information

Entry name

RM40_HUMAN

Accession

Primary (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 3, 2013
This is version 95 of the entry and version 1 of the sequence. [Complete history]

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.