MRPL3 - mitochondrial ribosomal protein L3 Gene

Also Known as MRL3; RPML3; COXPD9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11222

About MRPL3

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:131,462,212-131,502,971 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 34.3), colon (RPKM 33.4) and 25 other tissues.

Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]

MRPL3 Products (1)

mRNA Protein Name
NM_007208.4 NP_009139.1 39S ribosomal protein L3, mitochondrial
Cellular Component GO Annotation Evidence References Source
part of mitochondrial large ribosomal subunit IDA
IDA: Inferred from direct assay
20186120 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
28892042 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

MRPL3 Protein Structure

Ribosomal_L3

Ribosomal_L3: Ribosomal protein L3 (103 - 300)

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
Protein Preferred Names Protein Names

39S ribosomal protein L3, mitochondrial

  • L3mt

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 9
  • COXPD9

  • Combined Oxidative Phosphorylation Defect Type 9

  • Combined Oxidative Phosphorylation Deficiency, Type 9

Chronic Tic Disorder
  • Chronic Motor Or Vocal Tic Disorder

  • Tic Disorders

  • Tic Disorder

  • Tic Disorder Nos

  • Tic Nos

  • Tic Spasm Nos

Marshall-Smith Syndrome
  • MRSHSS

  • Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome

  • Mss

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

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
Macaca mulatta MRPL3 VGNC VGNC:74725
Mus musculus MRPL3 MGD MGI:2137204
Rattus norvegicus MRPL3 RGD RGD:1306391
Canis familiaris MRPL3 VGNC VGNC:43390
Bos taurus MRPL3 VGNC VGNC:31630
Felis catus MRPL3 VGNC VGNC:63601
Others MRPL3 NCBI