MRPL44 - mitochondrial ribosomal protein L44 Gene

Also Known as L44MT; COXPD16; MRP-L44

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 65080

About MRPL44

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:223,950,854-223,967,714 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 7.0), lymph node (RPKM 6.9) 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. [provided by RefSeq, Jul 2008]

MRPL44 Products (1)

mRNA Protein Name
NM_022915.5 NP_075066.1 39S ribosomal protein L44, mitochondrial

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial translational elongation IMP
IMP: Inferred from mutant phenotype
23315540 GOA
Cellular Component GO Annotation Evidence References Source
part of mitochondrial large ribosomal subunit IDA
IDA: Inferred from direct assay
25278503 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
Protein Preferred Names Protein Names

39S ribosomal protein L44, mitochondrial

  • mitochondrial large ribosomal subunit protein mL44

MRPL44 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MRPL44 Q9H9J2 ABI2 Homo sapiens Q9NYB9
Validated Y2H
25416956
Intra
MRPL44 Q9H9J2 ABI2 Homo sapiens Q9NYB9
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MRPL44 Proteins

Cat. No. Product Name Accession Purity
HY-P77090 MRPL44 Protein, Human (sf9, His) Q9H9J2 (M1-S332) ≥ 85%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 16

  • COXPD16

  • Infantile Hypertrophic Cardiomyopathy Due To Mrpl44 Deficiency

  • Combined Oxidative Phosphorylation Defect Type 16

  • Combined Oxidative Phosphorylation Deficiency, Type 16
Combined Oxidative Phosphorylation Deficiency 1

  • Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

  • COXPD1

  • Early Fatal Progressive Hepatoencephalopathy

  • Hepatoencephalopathy Due To Coxpd1

  • Combined Oxidative Phosphorylation Deficiency, Type 1

  • Hepatoencephalopathy, Early Fatal Progressive

  • Hepatoencephalopathy Early Fatal Progressive
Dyskinetic Cerebral Palsy

  • Athetoid Cerebral Palsy

  • Athetoid Dyskinetic Cerebral Palsy

  • Cerebral Palsy Athetoid

  • Cerebral Palsy Dyskinetic

  • Athetoid Cerebral Paralysis

  • Dyskinetic Cerebral Paralysis

  • Vogt Disease

  • Athetoid Cerebrum Palsy

  • Double Athetosis Syndrome

  • État Marbré
Combined Oxidative Phosphorylation Deficiency
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

  • Peripheral Neuropathy And Optic Atrophy

  • Cmt6

  • Charcot-Marie-Tooth Disease Type 6

  • Hmsn Vi

  • HMSN6A

  • Hmsn Via

  • Hmsn6

  • Cmt6a

  • Charcot-Marie-Tooth Disease, Type 6

  • Hereditary Motor And Sensory Neuropathy Type 6

  • Hereditary Motor And Sensory Neuropathy Type Vi

  • Neuropathy, Hereditary Motor And Sensory, Type 6a

  • Neuropathy, Hereditary Motor And Sensory, Type Vi

  • Charcot-Marie-Tooth Disease, Type 6a

  • Hereditary Motor And Sensory Neuropathy Via

  • Hmsn 6

  • Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy

  • Charcot-Marie-Tooth Disease 6

  • Charcot-Marie-Tooth Disease 6a

  • Hereditary Motor And Sensory Neuropathy Type Via

  • Hereditary Motor And Sensory Neuropathy Vi
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
Myoclonic Epilepsy Associated With Ragged-Red Fibers

  • Merrf Syndrome

  • MERRF

  • Fukuhara Syndrome

  • Myoclonic Epilepsy Associated With Ragged Red Fibers

  • Myoencephalopathy Ragged-Red Fiber Disease

  • Myoclonic Epilepsy - Ragged Red Fibers

  • Myoclonus Epilepsy And Ragged Red Fibers

  • Myoclonus With Epilepsy And With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged-Red Fibers

  • Fukuhara Disease

  • Myoclonus Epilepsy Associated With Ragged-Red Fibres

  • Myoclonus With Epilepsy With Ragged Red Fibers
Perrault Syndrome

  • Gonadal Dysgenesis, Xx Type, With Deafness

  • Ovarian Dysgenesis With Sensorineural Deafness

  • Gonadal Dysgenesis, Xx Type

  • Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

  • Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

  • Xx Gonodal Dysgenesis-Deafness Syndrome

  • Xx Gonodal Dysgenesis-Hearing Loss Syndrome

  • Gonadal Dysgenesis Xx Type Deafness
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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08673 MRPL44 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20569 Mrpl44 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta MRPL44 VGNC VGNC:74779
Rattus norvegicus MRPL44 RGD RGD:1309556
Bos taurus MRPL44 VGNC VGNC:31639
Felis catus MRPL44 VGNC VGNC:63606
Mus musculus MRPL44 MGD MGI:1916413
Canis familiaris MRPL44 VGNC VGNC:43399
Others MRPL44 NCBI