RPL27 - ribosomal protein L27 Gene

Homo sapiens

Also known as L27; DBA16

Gene ID: 6155 | Gene type: protein coding

About RPL27

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:42,998,273-43,002,959 (from NCBI)

This gene has 8 transcripts (splice variants), 188 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 537.2), ovary (RPKM 510.1) 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 L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]

RPL27 Products(3)

mRNA	Protein	Name
NM_000988.5	NP_000979.1	60S ribosomal protein L27
NM_001349921.2	NP_001336850.1	60S ribosomal protein L27
NM_001349922.2	NP_001336851.1	60S ribosomal protein L27

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20926688	GOA
enables structural constituent of ribosome	IDA IDA: Inferred from direct assay	23636399	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in rRNA processing	IMP IMP: Inferred from mutant phenotype	25424902	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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
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

RPL27 Protein Structure

KOW

Ribosomal_L27e

0
100
136 a.a.

Protein Preferred Names

Protein Names

60S ribosomal protein L27

large ribosomal subunit protein eL27

Related Diseases

Diseases

Alias

Diamond-Blackfan Anemia 16

DBA16	Rpl27-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 16

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

Macrocytic Anemia

Anemia Macrocytic	Anemia, Macrocytic
Macrocytic Anaemia

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-RS12180	RPL27 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS12181	RPL27A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RPL27	RGD	RGD:621192
Mus musculus	RPL27	MGD	MGI:98036
Felis catus	RPL27	VGNC	VGNC:99440
Macaca mulatta	RPL27	VGNC	VGNC:99223
Canis familiaris	RPL27	VGNC	VGNC:55811
Bos taurus	RPL27	VGNC	VGNC:55868

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