RPL5 - ribosomal protein L5 Gene

Also Known as L5; uL18; MSTP030; PPP1R135

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6125

About RPL5

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:92,831,986-92,841,924 (from NCBI)

This gene has 11 transcripts (splice variants), 226 orthologues and is associated with 59 phenotypes. Ubiquitous expression in ovary (RPKM 1433.7), thyroid (RPKM 620.7) and 25 other tissues.

Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]

RPL5 Products (1)

mRNA Protein Name
NM_000969.5 NP_000960.2 60S ribosomal protein L5
Molecular Function GO Annotation Evidence References Source
enables 5S rRNA binding IDA
IDA: Inferred from direct assay
18560357 GOA
enables mRNA 3'-UTR binding IDA
IDA: Inferred from direct assay
16213212 GOA
enables mRNA 5'-UTR binding IDA
IDA: Inferred from direct assay
16213212 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9465063 GOA
enables structural constituent of ribosome IDA
IDA: Inferred from direct assay
23636399 GOA
enables structural constituent of ribosome IMP
IMP: Inferred from mutant phenotype
18697920 GOA
enables ubiquitin ligase inhibitor activity IDA
IDA: Inferred from direct assay
18560357 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
18560357 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of protein neddylation IDA
IDA: Inferred from direct assay
18560357 GOA
involved in negative regulation of ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
18560357 GOA
involved in negative regulation of ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
18560357 GOA
involved in positive regulation of gene expression IDA
IDA: Inferred from direct assay
18560357 GOA
involved in positive regulation of translation IDA
IDA: Inferred from direct assay
16213212 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
18560357 GOA
involved in rRNA processing IMP
IMP: Inferred from mutant phenotype
18697920 GOA
involved in regulation of signal transduction by p53 class mediator IMP
IMP: Inferred from mutant phenotype
24120868 GOA
involved in ribosomal large subunit assembly IMP
IMP: Inferred from mutant phenotype
24120868 GOA
involved in ribosomal large subunit biogenesis IMP
IMP: Inferred from mutant phenotype
18697920 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15314173 GOA
part of cytosolic large ribosomal subunit IDA
IDA: Inferred from direct assay
32669547 GOA
part of cytosolic large ribosomal subunit IPI
IPI: Inferred from physical interaction
25901680 GOA
located in cytosolic ribosome IDA
IDA: Inferred from direct assay
23636399 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
15469983 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
24120868 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9687515 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
15314173 GOA
part of ribonucleoprotein complex IDA
IDA: Inferred from direct assay
18809582 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPL5 Protein Structure

Ribosomal_L18p

Ribosomal_L18p: Ribosomal L18 of archaea, bacteria, mitoch. and chloroplast (26 - 173)

Ribosomal_L18_c

Ribosomal_L18_c: Ribosomal L18 C-terminal region (192 - 283)

  • 0
  • 100
  • 200
  • 297 a.a.
Protein Preferred Names Protein Names

60S ribosomal protein L5

  • large ribosomal subunit protein uL18

RPL5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RPL5 P46777 RPS23 Homo sapiens P62266 35271311
Intra
RPL5 P46777 RPS23 Homo sapiens P62266 20434207
Intra
RPL5 P46777 RPL23 Homo sapiens P62829 35271311
Intra
RPL5 P46777 RPL23 Homo sapiens P62829 30021884
Intra
RPL5 P46777 RRP1B Homo sapiens Q14684 35271311
Intra
RPL5 P46777 MDM2 Homo sapiens Q00987 17110929
Intra
RPL5 P46777 SURF2 Homo sapiens Q15527
Y2H
21900206
Intra
RPL5 P46777 SURF2 Homo sapiens Q15527 35271311
Cross
RPL5 P46777 Dcc Rattus norvegicus Q63155 20434207
Cross
RPL5 P46777 Dcc Rattus norvegicus Q63155 20434207
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Diamond-Blackfan Anemia 6
  • DBA6

  • Aase-Smith Syndrome Ii

  • Aase Syndrome

  • Aase Smith Syndrome 2

  • Rpl5-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 6

  • Diamond-Blackfan Anemia 1

Diamond-Blackfan Anemia
  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome

Atrial Heart Septal Defect
  • Atrial Septal Defect

  • Atrial Septal Defects

  • Atrioseptal Defect

  • Auricular Septal Defect

  • Congenital Atrial Septal Defect

  • Interatrial Septal Defect

  • Interauricular Septal Defect

  • Heart Septal Defects, Atrial

  • Septal Defect, Atrial

Diamond-Blackfan Anemia 1
  • Aase Syndrome

  • DBA1

  • Erythrogenesis Imperfecta

  • Aase-Smith Syndrome Ii

  • Dba

  • Blackfan-Diamond Syndrome

  • Bds

  • Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

  • Anemia, Congenital Erythroid Hypoplastic

  • Red Cell Aplasia, Pure, Hereditary

  • Aregenerative Anemia, Chronic Congenital

  • Rps19-Related Diamond-Blackfan Anemia

  • Chronic Congenital Aregenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Diamond-Blackfan, Type 1

  • Anemia, Diamond-Blackfan

  • Aase Smith Syndrome 2

  • Familial Hypoplastic Anaemia With Malformations

  • Constitutional Pure Red Cell Aplasia

Hemangioma
  • Hemangiomas

Interatrial Communication
  • Asd

  • Atrial Septal Defect

  • Interauricular Communication

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Pulmonary Hypertension, Primary, 1
  • Pulmonary Arterial Hypertension

  • Pah

  • Idiopathic Pulmonary Arterial Hypertension

  • Idiopathic Pulmonary Hypertension

  • Primary Pulmonary Hypertension

  • PPH1

  • Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

  • Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

  • Pph

  • Familial Primary Pulmonary Hypertension

  • Sporadic Primary Pulmonary Hypertension

  • Pht

  • Fpah

  • Familial Pulmonary Arterial Hypertension

  • Hereditary Pulmonary Arterial Hypertension

  • Heritable Pulmonary Arterial Hypertension

  • Ayerza Syndrome

  • Fpph

  • Ppht

  • Ipah

  • Primary Pulmonary Arterial Hypertension

  • Pulmonary Hypertension, Familial Primary

  • Hypertension, Pulmonary, Primary, Type 1

  • Ayerza'S Syndrome

  • Pah - [Pulmonary Arterial Hypertension]

  • Arrillaga Ayerza Syndrome

Macrocytic Anemia
  • Anemia Macrocytic

  • Anemia, Macrocytic

  • Macrocytic Anaemia

Shwachman-Diamond Syndrome 1
  • Shwachman-Diamond Syndrome

  • Shwachman Syndrome

  • Shwachman-Bodian-Diamond Syndrome

  • Sds

  • Pancreatic Insufficiency And Bone Marrow Dysfunction

  • Shwachman-Bodian Syndrome

  • SDS1

  • Lipomatosis Of Pancreas, Congenital

  • Congenital Lipomatosis Of Pancreas

  • Shwachman-Diamond Type Metaphyseal Dysplasia

  • Metaphyseal Chondrodysplasia, Shwachman Type

  • Shwachman-Diamond-Oski Syndrome

Dyskeratosis Congenita, X-Linked
  • DKCX

  • X-Linked Dyskeratosis Congenita

  • Zinsser-Cole-Engman Syndrome

  • Hoyeraal-Hreidarsson Syndrome

  • Dyskeratosis Congenita X-Linked

  • HHS

  • Cerebellar Hypoplasia With Pancytopenia

  • Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia

  • Dyskeratosis Congenita

Bowen-Conradi Syndrome
  • BWCNS

  • Bowen Hutterite Syndrome

  • Bowen-Conradi Hutterite Syndrome

  • Bowen Syndrome, Hutterite Type

  • Bowen Hutterite Syndrome, Formerly

  • Hutterite Syndrome

  • Bowen Syndrome Hutterite Type

  • Fetal Growth Retardation

Pure Red-Cell Aplasia
  • Pure Red Cell Aplasia

  • Primary Red Cell Aplasia

  • Red Cell Hypoplasia

  • Prca

  • Red-Cell Aplasia Pure

  • Red-Cell Aplasia, Pure

Treacher Collins Syndrome 1
  • Treacher Collins Syndrome

  • Mandibulofacial Dysostosis

  • Treacher Collins-Franceschetti Syndrome

  • Tcof

  • Tcs

  • Mfd1

  • Franceschetti-Klein Syndrome

  • TCS1

  • Franceschetti Syndrome

  • Franceschetti-Zwahlen-Klein Syndrome

  • Zygoauromandibular Dysplasia

  • Treacher-Collins Syndrome

  • Mandibulofacial Dysostosis Without Limb Anomalies

  • Bilateral And Symmetric Oto-Mandibular Dysplasia

Anauxetic Dysplasia 1
  • Anauxetic Dysplasia

  • Spondylometaepiphyseal Dysplasia, Menger Type

  • Spondylometaepiphyseal Dysplasia, Anauxetic Type

  • Spondyloepimetaphyseal Dysplasia, Anauxetic Type

  • ANXD1

  • Anxd

  • Spondylometaepiphyseal Dysplasia Anauxetic Type

  • Spondylometaepiphyseal Dysplasia Menger Type

  • Ad

  • Spondyloepimetaphyseal Dysplasia, Menger Type

  • Dysplasia, Anauxetic, Type 1

Cartilage-Hair Hypoplasia
  • Metaphyseal Chondrodysplasia, Mckusick Type

  • CHH

  • Mckusick Type Metaphyseal Chondrodysplasia

  • Metaphyseal Dysplasia Without Hypotrichosis

  • Cartilage Hair Hypoplasia Like Syndrome

  • Metaphyseal Chondrodysplasia Mckusick Type

  • Chhv

  • Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

  • Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

  • Cartilage-Hair Syndrome

  • Mckusick'S Metaphyseal Chondrodysplasia Syndrome

  • Metaphyseal Chondrodysplasia, Recessive Type

  • Autosomal Recessive Metaphyseal Chondrodysplasia

Dyskeratosis Congenita
  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome

Orofacial Cleft
  • Cleft, Orofacial

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris RPL5 VGNC VGNC:54064
Rattus norvegicus RPL5 RGD RGD:619825
Macaca mulatta RPL5 VGNC VGNC:100065
Mus musculus RPL5 MGD MGI:102854
Others RPL5 NCBI