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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RPL11 Gene

protein-coding GIFtS: 64
GCID: GC01P024018

ribosomal protein L11

Explore 12 diseases affiliated with
RPL11 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ribosomal Protein L11¹ ²		60S Ribosomal Protein L11²
L11¹ ²		GIG34²
CLL-Associated Antigen KW-12² ³		Cell Growth-Inhibiting Protein 34²
DBA7² ⁵

External Ids:	HGNC: 10301¹	Entrez Gene: 6135²	Ensembl: ENSG00000142676⁷	OMIM: 604175⁵	UniProtKB: P62913³

Export aliases for RPL11 gene to outside databases

Previous GC identifers: GC01P023575 GC01P023089 GC01P023487 GC01P023763 GC01P023890 GC01P022268

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RPL11:

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit.

Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene

encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal

proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced

transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding

ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. (provided by

RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: RL11_HUMAN, P62913

Function: Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S ribosomal

subunits. Promotes nucleolar location of PML (By similarity)

Gene Wiki entry for RPL11

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RPL11 gene promoter:
E2F-4 E2F-3a E2F-5 AML1a p53 E2F-2 AREB6 E2F-1 E2F
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RPL11 promoter sequence

Search SABiosciences Chromatin IP Primers for RPL11

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPL11

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.1-p35 Ensembl cytogenetic band: 1p36.11 HGNC cytogenetic band: 1p36.1-p35

RPL11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPL11 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P024018: view genomic region (about GC identifiers)

Start:	24,018,269 bp from pter	End:	24,022,915 bp from pter
Size:	4,647 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RL11_HUMAN, P62913 (See protein sequence)

Recommended Name: 60S ribosomal protein L11

Size: 178 amino acids; 20252 Da

Subunit: Interacts with PML and MDM2 (By similarity)

Subcellular location: Nucleus, nucleolus (By similarity)

Secondary accessions: P25121 P39026 Q8TDH2 Q9Y674

Alternative splicing: 2 isoforms: P62913-1, P39026-1 P62913-2, P39026-2

Explore the universe of human proteins at neXtProt for RPL11: NX_P62913

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P62913

RPL11 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000966.2 NP_001186731.1

ENSEMBL proteins:

ENSP00000363676 ENSP00000390839 ENSP00000398888

Reactome Protein details: P62913
Human Recombinant Protein Products for RPL11:

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	Uscn Proteins for RPL11

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IDA	15195100
GO:0005829	cytosol	TAS	--
GO:0005840	ribosome	--	--
GO:0022625	cytosolic large ribosomal subunit	IDA	12962325

RPL11 for ontologies About GeneDecksing

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Assay Products for RPL11:

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	Uscn ELISAs and CLIAs for RPL11

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RPL11 for domains About GeneDecksing

3 InterPro domains/families:

IPR002132 Ribosomal_L5

IPR022803 Ribosomal_L5_domain

IPR020929 Ribosomal_L5_CS

Graphical View of Domain Structure for InterPro Entry P62913

ProtoNet protein and cluster: P62913

1 Blocks protein family: IPB003236 Mitochondrial ribosomal protein L5

UniProtKB/Swiss-Prot: RL11_HUMAN, P62913

Similarity: Belongs to the ribosomal protein L5P family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RL11_HUMAN, P62913

Function: Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S ribosomal

subunits. Promotes nucleolar location of PML (By similarity)

Genatlas biochemistry entry for RPL11:

60S ribosomal protein L11

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	TAS	7748210
GO:0003735	structural constituent of ribosome	NAS	12962325
GO:0005515	protein binding	IPI	--
GO:0019843	rRNA binding	IEA	--

RPL11 for ontologies About GeneDecksing

Phenotypes:
7 GenomeRNAi human phenotypes for RPL11:

Decreased G3BP1 protein expres	Decreased viability of wild-ty	Increased S DNA content	Nuclear 40S maturation defects
Nuclear 60S biogenesis defects	Nucleolar pre-40S maturation d	S arrest

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RPL11

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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for RPL11

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Synthesis of PB1-F2

8/26 pathways (see all 26)
Viral Protein Synthesis	1.00	Cytoplasmic Ribosomal Proteins	0.86
Viral mRNA Translation	1.00	CFTR translational fidelity (class I mutations)	0.83
Influenza Viral RNA Transcription and Replication	1.00	SMG6 Cleaves mRNA with Premature Termination Codon	0.80
Synthesis of nascent polypeptide containing signal sequence	1.00	L13a-mediated translational silencing of Ceruloplasmin expression	0.79

Metabolism of mRNA

Metabolism of mRNA

1.00

Metabolism of RNA

0.92

Disease

Disease

1.00

Validated targets of C-MYC transcriptional activation

Validated targets of C-MYC transcriptional activation

1.00

p53 pathway

p53 pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for RPL11

CFTR translational fidelity (class I mutations)

3 BioSystems Pathways for RPL11

	Cytoplasmic Ribosomal Proteins
	Validated targets of C-MYC transcriptional activation
	p53 pathway

5/28 Reactome Pathways for RPL11 (see all 28)

	Nonsense Mediated Decay Independent of the Exon Junction Complex
	Nonsense-Mediated Decay
	Translation
	SRP-dependent cotranslational protein targeting to membrane
	Eukaryotic Translation Initiation

1 Kegg Pathway (Kegg details for RPL11):

Ribosome

RPL11 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RPL11

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/539 Interacting proteins for RPL11 (P62913^{1, 2, 3} ENSP00000363676⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 539)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MDM2	Q00987¹^,²^,³, ENSP00000417281⁴	EBI-354380,EBI-389668 MINT-3391155 MINT-7294635 MINT-3391071 MINT-3391138 MINT-8416041 I2D: score=7 STRING: ENSP00000417281
RPL26	P61254²^,³, ENSP00000293842⁴	MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=5 STRING: ENSP00000293842
RPS2	P15880²^,³, ENSP00000341885⁴	MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=3 STRING: ENSP00000341885
RPS3	P23396²^,³, ENSP00000278572⁴	MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=3 STRING: ENSP00000278572
RPS15A	P62244²^,³, ENSP00000318646⁴	MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=1 STRING: ENSP00000318646

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	--
GO:0006364	rRNA processing	IMP	18697920
GO:0006412	translation	TAS	--
GO:0006413	translational initiation	TAS	--
GO:0006414	translational elongation	TAS	--

RPL11 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RPL11 for compounds About GeneDecksing

EMD Millipore small molecules for RPL11:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RPL11

3 DrugBank Compounds for RPL11 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
ANISOMYCIN	--	--	target	--	10592235
Alpha-Hydroxy-Beta-Phenyl-Propionic Acid	--	--	target	--	10592235
PUROMYCIN	--	--	target	--	10592235

2 Novoseek chemical compound relationships for RPL11 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
thiostrepton	89.7	5	7567452 (2), 9718323 (1), 18380436 (1)
rrna	47.4	1	10090750 (1)

Search CenterWatch for drugs/clinical trials and news about RPL11 / RL11

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RPL11 gene (2 alternative transcripts):

NM_000975.3 NM_001199802.1

Unigene Cluster for RPL11:

Ribosomal protein L11

Hs.719951 [show with all ESTs]

Unigene Representative Sequence: BQ055059

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000374550(uc001bhl.3 uc001bhk.3) ENST00000467075 ENST00000482370

ENST00000443624 ENST00000458455

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Additional cDNA sequence:

AF432212.1 AK311816.1 AY871274.1 BC018970.2 L05092.1

24/51 DOTS entries (see all 51):

DT.97856747 DT.100707946 DT.95308154 DT.100707932 DT.100707934 DT.95308953 DT.97850914 DT.121456938

DT.97868402 DT.100874779 DT.95084541 DT.121457079 DT.121456973 DT.450778 DT.120828573 DT.121456962

DT.92407131 DT.91964668 DT.100869877 DT.121456904 DT.121457063 DT.121457071 DT.91662858 DT.102839256

24/2115 AceView cDNA sequences (see all 2115):

BU521971 AW196616 AI459607 BG030681 BG927905 BM840711 AA312553 AA773103

AV708061 AA380718 AV654947 AW161895 CB107025 AW059557 BC018970 BM564853

BM016380 BM801930 BM782941 AI344128 CR601780 BU507625 BF057954 CB069063

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for RPL11 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	·	6c	^	7a	·	7b
SP1:							-						-								-		-						-
SP2:							-						-								-		-						-
SP3:													-								-		-
SP4:							-						-
SP5:							-						-

ECgene alternative splicing isoforms for RPL11

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RPL11 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGCTGGTTCC

About this image
See RPL11 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RPL11

SOURCE GeneReport for Unigene cluster: Hs.719951
SABiosciences Custom PCR Arrays for RPL11

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RPL11 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RPL11

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for RPL11

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for RPL11 gene from 10/37 species (see all 37) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rpl11^{1 , 5}	ribosomal protein L11^{1, 5}	91.57(n)¹ 100(a)¹		4 (68.34 cM)⁵ 67025¹ NM_025919.2¹ NP_080195.1¹ 136028265⁵
chicken (Gallus gallus)	Aves	RPL11¹	ribosomal protein L11	79.84(n) 91.28(a)		419682 NM_001030904.1 NP_001026075.1
lizard (Anolis carolinensis)	Reptilia	RPL11⁶	--	97(a)	1 ↔ 1	GL343498.1(174750-177550)
zebrafish (Danio rerio)	Actinopterygii	rpl11¹	ribosomal protein L11	82.77(n) 95.51(a)		415229 NM_001002139.1 NP_001002139.1
fruit fly (Drosophila melanogaster)	Insecta	RpL11^{1 , 3}	protein biosynthesis structural constituent of more³ Ribosomal protein L11¹	82(a)³ 72.35(n)¹ 84.71(a)¹		56D7³ 37235¹ NM_057706.4¹ NP_477054.1¹
worm (Caenorhabditis elegans)	Secernentea	rpl-11.2^{1 , 3}	ribosomal protein³ Protein RPL-11.2¹	82(a) (best of 2)³ 70.41(n)¹ 82.25(a)¹		X(2277070-2278156)³ 180535¹ NM_076012.4¹ NP_508413.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RPL11B(YGR085C)⁴ RPL11A¹	Protein component of the large (60S) ribosomal subunit, more⁴ Rpl11ap¹	65.87(n)¹ 72.46(a)¹		7(648907-648383)⁴ 856217¹ NP_015427.1¹ 852976⁴ NP_011599.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G58700¹	60S ribosomal protein L11-2	66.27(n) 72.29(a)		825039 NM_115732.3 NP_191429.1
rice (Oryza sativa)	Liliopsida	Os02g0235600¹	hypothetical protein	65.88(n) 71.6(a)		4328826 NM_001052921.1 NP_001046386.1
E. coli (Escherichia coli)	Gamma proteobacteria	rplE⁶	50S ribosomal subunit protein L5	25(a)	1 ↔ 1	Chromosome(3444921-3445460)

ENSEMBL Gene Tree for RPL11 (if available)
TreeFam Gene Tree for RPL11 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RPL11 gene

RPL11 for paralogs About GeneDecksing

5/6 Pseudogenes.org Pseudogenes for RPL11 (see all 6)
PGOHUM00000238584 PGOHUM00000238877 PGOHUM00000239592 PGOHUM00000236916 PGOHUM00000240073

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs147320956^1,2	C,F	--	22267736(+)	`GTGTTA/GGCCAG`	2	--	us2k¹		1		NS	138
rs114532762^1,2	C,F	--	22267877(+)	`TTATCA/GATAGC`	2	--	us2k¹		1		WA	118
rs143238923^1,2	C	--	22268910(+)	`AAATGC/TGCCTC`	2	--	us2k¹		1		NS	150
rs72870597^1,2	C,F	--	22269092(+)	`TGCGGG/TGGCTA`	2	--	int¹		4		WA CSA NS	152
rs2280438^1,2	C,H	--	22269573(-)	`TGAGTG/ATTAAA`	2	--	int¹		6		EA NS	2034
rs1804294^1,2	H	--	22269872(+)	`ATCTGT/CGTTGG`	4	/C	syn¹		4		NS EA	418
rs111926555^1,2	C	--	22269955(+)	`CAAAGC/GTGAGT`	2	--	spd¹		1		CSA	1
rs12061836^1,2	C,F,H	--	22270074(+)	`AAATTC/TATGAG`	2	--	int¹		5		NS EA CSA	421
rs78686007^1,2		--	22270112(+)	`TTTTTA/TTTCAA`	2	--	int¹		0	--	--	--	--
rs111567692^1,2		--	22270308(+)	`CGGGAG/TCATGA`	2	--	int¹		2		CSA NA	121

HapMap Linkage Disequilibrium report for RPL11 (24018269 - 24022915 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RPL11: --
Human Gene Mutation Database (HGMD): RPL11

Locus Specific Mutation Databases (LSDB): RPL11

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RPL11 for disorders           About GeneDecksing

OMIM gene information: 604175
OMIM disorders: 612562
UniProtKB/Swiss-Prot: RL11_HUMAN, P62913

Defects in RPL11 are the cause of Diamond-Blackfan anemia type 7 (DBA7) [MIM:612562]. DBA7 is 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

12 diseases for RPL11: About MalaCards

diamond-blackfan anemia treacher collins syndrome macrocytic anemia short stature

cleft palate aplastic anemia anemia pneumonia

retinitis tuberculosis malaria mycobacterium tuberculosis

2 diseases from the University of Copenhagen DISEASES database for RPL11:

Diamond-Blackfan anemia Pure red-cell aplasia

GeneTests: RPL11

Diamond-Blackfan Anemia

Human Genome Epidemiology (HuGE) Navigator: RPL11 (2 documents)

Export disorders for RPL11 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RPL11 gene, integrated from 9 sources (see all 109):
(articles sorted by number of sources associating them with RPL11)

Utopia: connect your pdf to the dynamic
world of online information

A map of 75 human ribosomal protein genes. (PubMed id 9582194)^{1, 2, 3} Kenmochi N.... Page D.C. (1998)
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond- Blackfan anemia. (PubMed id 19191325)^{1, 2, 9} Cmejla R.... Pospisilova D. (2009)
Cloning and determination of the primary structure of DNA complementary to the mRNA of human ribosomal protein L11. (PubMed id 7748210)^{1, 2, 9} Mishin V.P....Mertvetsov N.P. (1995)
Structural and functional analysis of the human ribosomal protein L11 gene. (PubMed id 12815950)^{1, 2, 9} Voronina E.N.... Filipenko M.L. (2003)
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PubMed id 19061985)^{1, 2} Gazda H.T....Beggs A.H. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing. (PubMed id 12962325)^{1, 2} Odintsova T.I....Karpova G.G. (2003)
Assignment of the L11 ribosomal protein gene (RPL11) to human chromosome 1p36.1-->p35 by in situ hybridization. (PubMed id 10343117)^{1, 3} Graphodatsky A.S....Prydz H. (1999)
Ribosomal protein L11 associates with c-Myc at 5 S rR NA and tRNA genes and regulates their expression. (PubMed id 20194507)^{1, 9} Dai M.S....Lu H. (2010)
[Transcription factor YY1 participates in activation transcription of the human ribosomal protein L11 gene] (PubMed id 18389627)^{1, 9} Voronina E.N....Filipenko M.L. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6135	HGNC: 10301	AceView: RPL11andTCEB3	Ensembl:ENSG00000142676	euGenes: HUgn6135
ECgene: RPL11	Kegg: 6135	H-InvDB: RPL11

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RPL11	Pharmacogenomics, SNPs, Pathways
Diamond-Blackfan Anemia mutation database	http://www.dbagenes.unito.it/home.php?select_db=RPL11

Intellectual Property for RPL11 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RPL11 gene:
Search GeneIP for patents involving RPL11

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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ribosomal protein L11

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RPL11 Gene

ribosomal protein L11

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