MRPS22 - mitochondrial ribosomal protein S22 Gene

Also Known as GIBT; ODG7; GK002; C3orf5; COXPD5; RPMS22; MRP-S22

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56945

About MRPS22

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:139,343,994-139,357,140 (from NCBI)

This gene has 25 transcripts (splice variants), 215 orthologues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 27.8), testis (RPKM 18.6) 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 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

MRPS22 Products (3)

mRNA	Protein	Name
NM_001363857.1	NP_001350786.1	28S ribosomal protein S22, mitochondrial isoform 2
NM_001363893.1	NP_001350822.1	28S ribosomal protein S22, mitochondrial isoform 3
NM_020191.4	NP_064576.1	28S ribosomal protein S22, mitochondrial isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	GOA
enables structural constituent of ribosome	IDA IDA: Inferred from direct assay	10938081	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of mitochondrial small ribosomal subunit	IDA IDA: Inferred from direct assay	10938081	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

MRPS22 Protein Structure

MRP-S22

0
100
200
300
360 a.a.

Protein Preferred Names	Protein Names
28S ribosomal protein S22, mitochondrial	S22mt

MRPS22 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P811122	MRPS22 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat, Monkey, Bovine

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 5	COXPD5 Hypotonia With Lactic Acidemia And Hyperammonemia Combined Oxidative Phosphorylation Defect Type 5 Combined Oxidative Phosphorylation Deficiency, Type 5
Ovarian Dysgenesis 7	ODG7
46,Xx Sex Reversal 1	46,Xx Testicular Disorder Of Sex Development 46,Xx Gonadal Dysgenesis SRXX1 46,Xx Gonadal Dysgenesis, Complete, Sry-Positive 46,Xx Testicular Dsd Xx Male Syndrome 46,Xx Complete Gonadal Dysgenesis 46,Xx Pure Gonadal Dysgenesis Follicular Stimulating Hormone-Resistant Ovaries Hypergonadotropic Ovarian Dysgenesis Ovotesticular Disorder Of Sex Development 46,Xx Sex Reversal, Sry-Positive Xx Male, Sry-Positive 46xx Sex Reversal 1 46, Xx Gonadal Sex Reversal Xx Sex Reversal 46,Xx Ovarian Dysgenesis Fsh-Ro Xx Female Gonadal Dysgenesis Xx-Gd 46,Xx Ovotesticular Disorder Of Sex Development 46,Xx Ovotesticular Dsd De La Chapelle Syndrome Xx, Male Syndrome 46,Xx Gonadal Dysgenesis Complete Sry-Positive 46,Xx Sex Reversal Sry-Positive 46,Xx True Hermaphroditism Sry-Positive Ovotesticular Dsd Xx Male Sry-Positive Ovotesticular Disorders Of Sex Development 46, Xx Testicular Disorders Of Sex Development Resistant Ovary Syndrome Dysgenetic Ovaries Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries] True Hermaphroditism Ovotestis True Hermaphrodite
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Esophagus Leiomyoma	Leiomyoma Of Esophagus
Uterine Hypoplasia
Blepharophimosis
Nephrotic Syndrome, Type 2	NPHS2 Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1 Nephrotic Syndrome Type 2 Steroid-Resistant Autosomal Recessive Nephrotic Syndrome Nephrotic Syndrome 2 Autosomal Recessive Steroid-Resistant Nephrotic Syndrome Srn Nephrotic Syndrome, Type 2, Susceptibility To Idiopathic Nephrotic Syndrome
Combined Oxidative Phosphorylation Deficiency
Metabolic Acidosis
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
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
Amyotrophic Lateral Sclerosis 20	Amyotrophic Lateral Sclerosis Type 20 ALS20 Sclerosis, Lateral, Amyotrophic, Type 20
Myopathy, Lactic Acidosis, And Sideroblastic Anemia
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
Blepharophimosis, Ptosis, And Epicanthus Inversus	Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome BPES Blepharophimosis Syndrome Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1 Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Bpes With Duane Retraction Syndrome Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2 Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1 Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2 Bpes Type 2 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus 3q23 Microdeletion Syndrome Bpes Plus Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1 Bpes Type 1 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure Blepharophimosis, Ptosis, Epicanthus Inversus Autosomal Dominant Bpes Type I Autosomal Recessive Bpes Type I Bpes Type I Bpes Type Ii Bpes Without Ovarian Failure Bpes With Ovarian Failure Blepharophimosis Syndrome Type 1 Blepharophimosis Syndrome Type 2
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
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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 (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS08679	MRPS22 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MRPS22	RGD	RGD:1585674
Macaca mulatta	MRPS22	VGNC	VGNC:74763
Mus musculus	MRPS22	MGD	MGI:1928137
Felis catus	MRPS22	VGNC	VGNC:63618
Bos taurus	MRPS22	VGNC	VGNC:31662
Others	MRPS22	NCBI