RMND1 - required for meiotic nuclear division 1 homolog Gene

Also Known as RMD1; C6orf96; COXPD11; bA351K16; bA351K16.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55005

About RMND1

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:151,404,762-151,452,126 (from NCBI)

This gene has 25 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.9), kidney (RPKM 10.5) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined Oxidative Phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

RMND1 Products (2)

mRNA	Protein	Name
NM_001271937.2	NP_001258866.1	required for meiotic nuclear division protein 1 homolog isoform 2
NM_017909.4	NP_060379.2	required for meiotic nuclear division protein 1 homolog isoform 1

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 positive regulation of mitochondrial translation	IDA IDA: Inferred from direct assay	25604853	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	25604853	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

RMND1 Protein Structure

DUF155

0
100
200
300
400
449 a.a.

Protein Preferred Names	Protein Names
required for meiotic nuclear division protein 1 homolog

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 11	COXPD11 Combined Oxidative Phosphorylation Defect Type 11 Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect Combined Oxidative Phosphorylation Deficiency, Type 11
Mitochondrial Oxidative Phosphorylation Disorder	Oxphos Disease Mitochondrial Respiratory Chain Disorders Oxphos - [Oxidative Phosphorylation] Diseases
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Combined Oxidative Phosphorylation Deficiency
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness	Bsnd Sensorineural Deafness With Mild Renal Dysfunction Bartter Disease Type 4a BARTS4A Bartter Syndrome, Type 4a Bartter Syndrome Type 4 Bartter Syndrome, Neonatal, With Sensorineural Deafness Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type 4a Neonatal Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type Iv Bartter Syndrome With Sensorineural Hearing Loss Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness Hyperprostanglandin E Syndrome 4 Hypokalemic Alkalosis With Hypercalciuria Antenatal 4 Infantile Bartter Syndrome With Sensorineural Deafness
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Lethal Restrictive Dermopathy	Hyperkeratosis-Contracture Syndrome Tight Skin Contracture Syndrome Tight Skin Contracture Syndrome, Lethal Dermopathy, Restrictive, Lethal
Leukoencephalopathy, Cystic, Without Megalencephaly	Cystic Leukoencephalopathy Without Megalencephaly Rnaset2-Deficient Cystic Leukoencephalopathy Rnase T2-Deficient Leukoencephalopathy Clwm Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy Lbatc LCWM
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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12016	RMND1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RMND1	MGD	MGI:1913334
Macaca mulatta	RMND1	VGNC	VGNC:76797
Rattus norvegicus	RMND1	RGD	RGD:1309546
Bos taurus	RMND1	VGNC	VGNC:33995
Canis familiaris	RMND1	VGNC	VGNC:53761
Felis catus	RMND1	VGNC	VGNC:64653