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P09001 (RM03_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 132. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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 L3, mitochondrial

Short name=L3mt
Short name=MRP-L3
Gene names
Name:MRPL3
Synonyms:MRL3, RPML3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length348 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentMitochondrion
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   Molecular functionRibonucleoprotein
Ribosomal protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtranslation

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentmitochondrial large ribosomal subunit

Inferred from direct assay PubMed 20186120. Source: UniProtKB

   Molecular_functionRNA binding

Traceable author statement Ref.1. Source: ProtInc

poly(A) RNA binding

Inferred from direct assay PubMed 22658674PubMed 22681889. Source: UniProtKB

structural constituent of ribosome

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 34834839S ribosomal protein L3, mitochondrial
PRO_0000077253

Natural variations

Natural variant2611M → T.
Corresponds to variant rs2291381 [ dbSNP | Ensembl ].
VAR_020108
Natural variant3171P → R in COXPD9. Ref.6
VAR_066676

Sequences

Sequence LengthMass (Da)Tools
P09001 [UniParc].

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

FASTA34838,633
        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' 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. 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].
[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.
CCDSCCDS3071.1.
PIRR5HUL3. A27294.
RefSeqNP_009139.1. NM_007208.3.
UniGeneHs.205163.

3D structure databases

ProteinModelPortalP09001.
SMRP09001. Positions 97-304.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116390. 25 interactions.
IntActP09001. 4 interactions.
MINTMINT-3006640.
STRING9606.ENSP00000264995.

PTM databases

PhosphoSiteP09001.

Proteomic databases

MaxQBP09001.
PaxDbP09001.
PeptideAtlasP09001.
PRIDEP09001.

Protocols and materials databases

DNASU11222.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264995; ENSP00000264995; ENSG00000114686.
GeneID11222.
KEGGhsa:11222.
UCSCuc003eoh.3. human.

Organism-specific databases

CTD11222.
GeneCardsGC03M131181.
HGNCHGNC:10379. MRPL3.
HPAHPA043665.
MIM607118. gene.
614582. phenotype.
neXtProtNX_P09001.
Orphanet319509. Combined oxidative phosphorylation defect type 9.
PharmGKBPA30960.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0087.
HOGENOMHOG000100369.
HOVERGENHBG002294.
InParanoidP09001.
KOK02906.
OrthoDBEOG70GMFZ.
PhylomeDBP09001.
TreeFamTF105634.

Gene expression databases

ArrayExpressP09001.
BgeeP09001.
CleanExHS_MRPL3.
GenevestigatorP09001.

Family and domain databases

InterProIPR000597. Ribosomal_L3.
IPR019927. Ribosomal_L3_bac/org-type.
IPR019926. Ribosomal_L3_CS.
IPR009000. Transl_B-barrel.
[Graphical view]
PANTHERPTHR11229. PTHR11229. 1 hit.
PfamPF00297. Ribosomal_L3. 1 hit.
[Graphical view]
SUPFAMSSF50447. SSF50447. 1 hit.
TIGRFAMsTIGR03625. L3_bact. 1 hit.
PROSITEPS00474. RIBOSOMAL_L3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMRPL3.
GenomeRNAi11222.
NextBio42715.
PROP09001.
SOURCESearch...

Entry information

Entry nameRM03_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 132 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

SIMILARITY comments

Index of protein domains and families

Ribosomal proteins

Ribosomal proteins families and list of entries

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 3

Human chromosome 3: entries, gene names and cross-references to MIM