P46777 (RL5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
60S ribosomal protein L5

Gene names

Name:	RPL5
ORF Names:	MSTP030

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	297 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)

Function	Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA. Ref.10
Subcellular location	Cytoplasm. Nucleus › nucleolus Ref.7.
Involvement in disease	Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.14
Sequence similarities	Belongs to the ribosomal protein L18P family.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Diamond-Blackfan anemia Disease mutation
Ligand	RNA-binding rRNA-binding
Molecular function	Ribonucleoprotein Ribosomal protein
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	SRP-dependent cotranslational protein targeting to membrane Traceable author statement. Source: Reactome nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Traceable author statement. Source: Reactome rRNA processing Inferred from mutant phenotype PubMed 18697920. Source: UniProtKB ribosomal large subunit biogenesis Inferred from mutant phenotype PubMed 18697920. Source: UniProtKB translational elongation Traceable author statement. Source: Reactome translational initiation Traceable author statement. Source: Reactome translational termination Traceable author statement. Source: Reactome viral transcription Traceable author statement. Source: Reactome
Cellular_component	cytosolic large ribosomal subunit Inferred from direct assay Ref.6. Source: UniProtKB nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay PubMed 9687515. Source: UniProtKB
Molecular_function	5S rRNA binding Inferred from electronic annotation. Source: InterPro RNA binding Traceable author statement Ref.1. Source: ProtInc structural constituent of ribosome Non-traceable author statement Ref.6. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DCC	P43146	7	EBI-358018,EBI-1222919
Dcc	Q63155	4	EBI-358018,EBI-1798965	From a different organism.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.6
	Chain	2 – 297	296	60S ribosomal protein L5		PRO_0000131431
Amino acid modifications
	Modified residue	5	1	N6-acetyllysine Ref.11
	Modified residue	48	1	N6-acetyllysine Ref.11
	Modified residue	272	1	Phosphoserine Ref.13
Natural variations
	Natural variant	140	1	G → S in DBA6. Ref.10		VAR_055450
	Natural variant	210	1	Y → C. Ref.5 Corresponds to variant rs11540832 [ dbSNP | Ensembl ].		VAR_052009
	Natural variant	285	1	A → V in DBA6. Ref.14		VAR_055451
Experimental info
	Sequence conflict	78	1	A → R in AAA85654. Ref.1
	Sequence conflict	176	1	S → R Ref.9
	Sequence conflict	264	1	K → E in BAD96324. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P46777 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 07CA9FBA842BD2A3	FASTA	297	34,363
	10 20 30 40 50 60 MGFVKVVKNK AYFKRYQVKF RRRREGKTDY YARKRLVIQD KNKYNTPKYR MIVRVTNRDI 70 80 90 100 110 120 ICQIAYARIE GDMIVCAAYA HELPKYGVKV GLTNYAAAYC TGLLLARRLL NRFGMDKIYE 130 140 150 160 170 180 GQVEVTGDEY NVESIDGQPG AFTCYLDAGL ARTTTGNKVF GALKGAVDGG LSIPHSTKRF 190 200 210 220 230 240 PGYDSESKEF NAEVHRKHIM GQNVADYMRY LMEEDEDAYK KQFSQYIKNS VTPDMMEEMY 250 260 270 280 290 KKAHAAIREN PVYEKKPKKE VKKKRWNRPK MSLAQKKDRV AQKKASFLRA QERAAES

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs." Frigerio J.-M., Dagorn J.-C., Iovanna J.L. Biochim. Biophys. Acta 1262:64-68(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Colon.
[2]	Liu B., Liu Y.Q., Wang X.Y., Zhao B., Sheng H., Zhao X.W., Liu S., Xu Y.Y., Ye J., Song L., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Cao H.Q., Zhao Y., Liu L.S., Ding J.F. , Gao R.L., Wu Q.Y., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S., Hui R.T. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Aorta.
[3]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Coronary arterial endothelium.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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], VARIANT CYS-210. Tissue: Lung.
[6]	"Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing." Odintsova T.I., Muller E.C., Ivanov A.V., Egorov T.A., Bienert R., Vladimirov S.N., Kostka S., Otto A., Wittmann-Liebold B., Karpova G.G. J. Protein Chem. 22:249-258(2003) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-12, MASS SPECTROMETRY.
[7]	Bienvenut W.V. Submitted (AUG-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 69-85; 159-188 AND 222-228, SUBCELLULAR LOCATION, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Interaction of the beta subunit of casein kinase II with the ribosomal protein L5." Kim J.-M., Cha J.-Y., Marshak D.R., Bae Y.-S. Biochem. Biophys. Res. Commun. 226:180-186(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 153-297.
[9]	"U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals." Qu L.H., Nicoloso M., Michot B., Azum M.C., Caizergues-Ferrer M., Renalier M.H., Bachellerie J.-P. Nucleic Acids Res. 22:4073-4081(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 162-176.
[10]	"Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients." Gazda H.T., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.-F., Schneider H., Darras N., Hasman C., Sieff C.A., Newburger P.E., Ball S.E., Niewiadomska E., Matysiak M., Zaucha J.M., Glader B., Niemeyer C., Meerpohl J.J., Atsidaftos E. , Lipton J.M., Gleizes P.-E., Beggs A.H. Am. J. Hum. Genet. 83:769-780(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, VARIANT DBA6 SER-140.
[11]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-5 AND LYS-48, MASS SPECTROMETRY.
[12]	"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].
[13]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-272, MASS SPECTROMETRY.
[14]	"Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia." Cmejla R., Cmejlova J., Handrkova H., Petrak J., Petrtylova K., Mihal V., Stary J., Cerna Z., Jabali Y., Pospisilova D. Hum. Mutat. 30:321-327(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DBA6 VAL-285.
+	Additional computationally mapped references.

Web resources

Diamond-Blackfan Anemia mutation database

Cross-references

Sequence databases
EMBL GenBank DDBJ	U14966 mRNA. Translation: AAA85654.1. AF113210 mRNA. Translation: AAG39281.1. AK222604 mRNA. Translation: BAD96324.1. AL162740 Genomic DNA. Translation: CAI22505.1. BC109370 mRNA. Translation: AAI09371.1. U76609 mRNA. Translation: AAB18361.1. Z35312 Genomic DNA. No translation available.
IPI	IPI00000494.
PIR	S55912.
RefSeq	NP_000960.2. NM_000969.3.
UniGene	Hs.532359.
3D structure databases
ProteinModelPortal	P46777.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-31152N.
IntAct	P46777. 19 interactions.
MINT	MINT-1034099.
STRING	9606.ENSP00000359345.
PTM databases
PhosphoSite	P46777.
Polymorphism databases
DMDM	81175191.
Proteomic databases
PaxDb	P46777.
PRIDE	P46777.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370321; ENSP00000359345; ENSG00000122406.
GeneID	6125.
KEGG	hsa:6125.
UCSC	uc001doz.3. human.
Organism-specific databases
CTD	6125.
GeneCards	GC01P093297.
HGNC	HGNC:10360. RPL5.
HPA	HPA043717.
MIM	603634. gene. 612561. phenotype.
neXtProt	NX_P46777.
Orphanet	124. Blackfan-Diamond disease.
PharmGKB	PA34755.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0256.
HOVERGEN	HBG009347.
InParanoid	P46777.
KO	K02932.
OMA	RQFSQYI.
OrthoDB	EOG4Z8XX0.
PhylomeDB	P46777.
Enzyme and pathway databases
Reactome	REACT_116125. Disease. REACT_17015. Metabolism of proteins. REACT_1762. 3' -UTR-mediated translational regulation. REACT_21257. Metabolism of RNA. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P46777.
Bgee	P46777.
CleanEx	HS_RPL5.
Genevestigator	P46777.
GermOnline	ENSG00000122406. Homo sapiens.
Family and domain databases
InterPro	IPR005485. Rbsml_L5_euk/L18_arc. IPR025607. Rbsml_L5e/L18P_C. IPR005484. Ribosomal_L18/L5. [Graphical view]
PANTHER	PTHR23410. PTHR23410. 1 hit.
Pfam	PF14204. Ribosomal_L18_c. 1 hit. PF00861. Ribosomal_L18p. 1 hit. [Graphical view]
PRINTS	PR00058. RIBOSOMALL5.
ProtoNet	Search...
Other
ChiTaRS	RPL5. human.
GenomeRNAi	6125.
NextBio	23791.
SOURCE	Search...

Entry information

Entry name

RL5_HUMAN

Accession

Primary (citable) accession number: P46777
Secondary accession number(s): Q32LZ3, Q53HH6, Q9H3F4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 127 of the entry and version 3 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.