RPL18 - ribosomal protein L18 Gene

Homo sapiens

Also known as L18; DBA18

Gene ID: 6141 | Gene type: protein coding

About RPL18

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,615,331-48,619,178 (from NCBI)

This gene has 16 transcripts (splice variants), 176 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 914.0), lymph node (RPKM 396.5) 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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

RPL18 Products(2)

mRNA	Protein	Name
NM_000979.4	NP_000970.1	60S ribosomal protein L18 isoform 1
NM_001270490.2	NP_001257419.1	60S ribosomal protein L18 isoform 2

RPL18 Protein Structure

Ribosomal_L27A

0
100
188 a.a.

Protein Preferred Names

Protein Names

60S ribosomal protein L18

large ribosomal subunit protein eL18

Related Diseases

Diseases

Alias

Diamond-Blackfan Anemia 18

DBA18

Rpl18-Related Diamond-Blackfan Anemia

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

Barber-Say Syndrome

Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia	Barber Say Syndrome
BBRSAY	Bss
Hypertrichosis Atrophic Skin Ectropion Macrostomia	Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome

Macrocytic Anemia

Anemia Macrocytic	Anemia, Macrocytic
Macrocytic Anaemia

Pierre Robin Syndrome

Pierre Robin Sequence	Glossoptosis, Micrognathia, And Cleft Palate
Pierre Robin Syndrome Skeletal Dysplasia Polydactyly	Pierre-Robin Syndrome
Isolated Pierre Robin Sequence	Isolated Pierre-Robin Syndrome
PRBNS	Robin Sequence
Robin Syndrome	Isolated Pierre Robin Syndrome

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12169	RPL18 Human Pre-designed siRNA Set A		/	Unkown
HY-RS12170	RPL18A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RPL18	VGNC	VGNC:45714
Mus musculus	RPL18	MGD	MGI:98003
Rattus norvegicus	RPL18	RGD	RGD:621182
Bos taurus	RPL18	VGNC	VGNC:34111

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