Reviewed, UniProtKB/Swiss-Prot Q9NQ50 (RM40_HUMAN)

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)

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.1 Traceable 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

	Sequence		Length	Mass (Da)
	Q9NQ50-1 [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: 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
EMBLGenBankDDBJ	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

Integrated into UniProtKB/Swiss-Prot:	May 27, 2002
Last sequence update:	October 1, 2000
Last modified:	June 16, 2009
This is version 62 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)