RPL27 - ribosomal protein L27 Gene

Also Known as L27; DBA16

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6155

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in rRNA processing IMP
IMP: Inferred from mutant phenotype
25424902 GOA
Cellular Component GO Annotation Evidence References 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

KOW: KOW motif (7 - 36)

Ribosomal_L27e

Ribosomal_L27e: Ribosomal L27e protein family (52 - 136)

  • 0
  • 100
  • 136 a.a.
Protein Preferred Names Protein Names

60S ribosomal protein L27

  • large ribosomal subunit protein eL27

RPL27 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RPL27 P61353 RRP1B Homo sapiens Q14684 20926688
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others RPL27 NCBI