39S ribosomal protein L3, mitochondrial

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P09001 (RM03_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 122. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
39S ribosomal protein L3, mitochondrial
Short name=L3mt
Short name=MRP-L3

Gene names

Name:	MRPL3
Synonyms:	MRL3, RPML3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	348 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Mitochondrion.
Involvement in disease	Combined oxidative phosphorylation deficiency 9 (COXPD9) [MIM:614582]: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Belongs to the ribosomal protein L3P family.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Molecular function	Ribonucleoprotein Ribosomal protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	translation Traceable author statement Ref.1. Source: ProtInc
Cellular_component	mitochondrial large ribosomal subunit Inferred from direct assay PubMed 20186120. Source: UniProtKB
Molecular_function	RNA binding Traceable author statement Ref.1. Source: ProtInc structural constituent of ribosome Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 348

348

39S ribosomal protein L3, mitochondrial

PRO_0000077253

Natural variations

Natural variant

261

M → T.
Corresponds to variant rs2291381 [ dbSNP | Ensembl ].

VAR_020108

Natural variant

317

P → R in COXPD9. Ref.6

VAR_066676

Sequences

Sequence

Length

Mass (Da)

Tools

P09001 [UniParc].

Last modified November 1, 1988. Version 1.
Checksum: 6DE6B5BD6BD72E32
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FASTA

348

38,633

        10         20         30         40         50         60 
MPGWRLLTQV GAQVLGRLGD GLGAALGPGN RTHIWLFVRG LHGKSGTWWD EHLSEENVPF 

        70         80         90        100        110        120 
IKQLVSDEDK AQLASKLCPL KDEPWPIHPW EPGSFRVGLI ALKLGMMPLW TKDGQKHVVT 

       130        140        150        160        170        180 
LLQVQDCHVL KYTSKENCNG KMATLSVGGK TVSRFRKATS ILEFYRELGL PPKQTVKIFN 

       190        200        210        220        230        240 
ITDNAAIKPG TPLYAAHFRP GQYVDVTAKT IGKGFQGVMK RWGFKGQPAT HGQTKTHRRP 

       250        260        270        280        290        300 
GAVATGDIGR VWPGTKMPGK MGNIYRTEYG LKVWRINTKH NIIYVNGSVP GHKNCLVKVK 

       310        320        330        340 
DSKLPAYKDL GKNLPFPTYF PDGDEEELPE DLYDENVCQP GAPSITFA

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of a human ribosomal protein gene with enhanced expression in fetal and neoplastic cells." Ou J.-H., Yen T.S.B., Wang Y.-F., Kam W.K., Rutter W. Nucleic Acids Res. 15:8919-8934(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	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. Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Cervix.
[5]	"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].
[6]	"Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy." Galmiche L., Serre V., Beinat M., Assouline Z., Lebre A.S., Chretien D., Nietschke P., Benes V., Boddaert N., Sidi D., Brunelle F., Rio M., Munnich A., Rotig A. Hum. Mutat. 32:1225-1231(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COXPD9 ARG-317.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X06323 mRNA. Translation: CAA29639.1. CR456720 mRNA. Translation: CAG33001.1. CH471052 Genomic DNA. Translation: EAW79209.1. BC003375 mRNA. Translation: AAH03375.1.
IPI	IPI00012353.
PIR	R5HUL3. A27294.
RefSeq	NP_009139.1. NM_007208.3.
UniGene	Hs.205163.
3D structure databases
ProteinModelPortal	P09001.
ModBase	Search...
Protein-protein interaction databases
IntAct	P09001. 2 interactions.
STRING	9606.ENSP00000264995.
PTM databases
PhosphoSite	P09001.
Polymorphism databases
DMDM	133116.
Proteomic databases
PaxDb	P09001.
PeptideAtlas	P09001.
PRIDE	P09001.
Protocols and materials databases
DNASU	11222.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264995; ENSP00000264995; ENSG00000114686.
GeneID	11222.
KEGG	hsa:11222.
UCSC	uc003eoh.3. human.
Organism-specific databases
CTD	11222.
GeneCards	GC03M131181.
HGNC	HGNC:10379. MRPL3.
HPA	HPA043665.
MIM	607118. gene. 614582. phenotype.
neXtProt	NX_P09001.
PharmGKB	PA30960.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0087.
HOGENOM	HOG000100369.
HOVERGEN	HBG002294.
InParanoid	P09001.
KO	K02906.
OrthoDB	EOG4548ZW.
Gene expression databases
ArrayExpress	P09001.
Bgee	P09001.
CleanEx	HS_MRPL3.
Genevestigator	P09001.
GermOnline	ENSG00000114686. Homo sapiens.
Family and domain databases
InterPro	IPR000597. Ribosomal_L3. IPR019927. Ribosomal_L3_bac/org-type. IPR019926. Ribosomal_L3_CS. IPR009000. Transl_elong_init/rib_B-barrel. [Graphical view]
PANTHER	PTHR11229. PTHR11229. 1 hit.
Pfam	PF00297. Ribosomal_L3. 1 hit. [Graphical view]
SUPFAM	SSF50447. Translat_factor. 1 hit.
TIGRFAMs	TIGR03625. L3_bact. 1 hit.
PROSITE	PS00474. RIBOSOMAL_L3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	11222.
NextBio	42715.
SOURCE	Search...

Entry information

Entry name

RM03_HUMAN

Accession

Primary (citable) accession number: P09001
Secondary accession number(s): Q6IBT2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1988
Last sequence update:	November 1, 1988
Last modified:	May 1, 2013
This is version 122 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.