GFM1 - G elongation factor mitochondrial 1 Gene

Also Known as EFG; GFM; EFG1; EFGM; EGF1; hEFG1; COXPD1; mtEF-G1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 85476

About GFM1

Cytogenetic location: 3q25.32 Genomic coordinates (GRCh38): 3:158,644,527-158,695,581 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 17.7), thyroid (RPKM 16.7) and 25 other tissues.

Summary

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]

GFM1 Products (10)

mRNA	Protein	Name
NM_001308164.2	NP_001295093.1	elongation factor G, mitochondrial isoform 1
NM_001308166.2	NP_001295095.1	elongation factor G, mitochondrial isoform 3
NM_001374355.1	NP_001361284.1	elongation factor G, mitochondrial isoform 4
NM_001374356.1	NP_001361285.1	elongation factor G, mitochondrial isoform 5
NM_001374357.1	NP_001361286.1	elongation factor G, mitochondrial isoform 6
NM_001374358.1	NP_001361287.1	elongation factor G, mitochondrial isoform 7
NM_001374359.1	NP_001361288.1	elongation factor G, mitochondrial isoform 8
NM_001374360.1	NP_001361289.1	elongation factor G, mitochondrial isoform 9
NM_001374361.1	NP_001361290.1	elongation factor G, mitochondrial isoform 10
NM_024996.7	NP_079272.4	elongation factor G, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activity	IDA IDA: Inferred from direct assay	19716793	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18157088	GOA
enables translation elongation factor activity	IDA IDA: Inferred from direct assay	19716793	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial translational elongation	IDA IDA: Inferred from direct assay	19716793	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

GFM1 Protein Structure

GTP_EFTU

GTP_EFTU_D2

EFG_II

EFG_IV

EFG_C

0
200
400
600
751 a.a.

Protein Preferred Names	Protein Names
elongation factor G, mitochondrial	G translation elongation factor, mitochondrial

GFM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GFM1	Q96RP9	TRIM63	Homo sapiens	Q969Q1	Pull Down	18157088
Intra	GFM1	Q96RP9	TRIM63	Homo sapiens	Q969Q1	Y2H	18157088

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Combined Oxidative Phosphorylation Deficiency
Denture Stomatitis	Stomatitis, Denture Denture Sore Mouth
Factor Vii Deficiency	Hypoproconvertinemia F7 Deficiency Congenital Proconvertin Deficiency Congenital Factor Vii Deficiency Factor 7 Deficiency Deficiency, Stable Proconvertin Deficiency Prothrombin Conversion Accelerator Deficiency Serum Prothrombin Conversion Accelerator Deficiency Proconvertin Deficiency, Congenital FA7D Stable Disease Deficiency, Factor Vii
Combined Oxidative Phosphorylation Deficiency 3	Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3 COXPD3 Encephalomyopathy, Respiratory Failure, And Lactic Acidosis Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis Fatal Mitochondrial Disease Due To Coxpd3 Concentric Cardiomyopathy Hypotonia And Lactic Acidosis Encephalomyopathy Respiratory Failure And Lactic Acidosis Encephalomyopathy With Respiratory Failure And Lactic Acidosis Combined Oxidative Phosphorylation Deficiency, Type 3
Combined Oxidative Phosphorylation Deficiency 13	COXPD13 Combined Oxidative Phosphorylation Defect Type 13 Combined Oxidative Phosphorylation Deficiency, Type 13
Combined Oxidative Phosphorylation Deficiency 39	COXPD39 Combined Oxidative Phosphorylation Defect Type 39 Gfm2-Related Combined Oxidative Phosphorylation Defect
Vulvovaginal Candidiasis	Candidiasis Of Vulva And Vagina Candidiasis, Vulvovaginal Candidal Vulvovaginitis Candidal: Cervix Monilial Vulvovaginitis Candidiasis Vulvovaginal
Polymicrogyria	Pmg
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic Cardiomyopathy 16 CMH16 Cardiomyopathy, Hypertrophic, 16 Cardiomyopathy Familial Hypertrophic 16 Cardiomyopathy, Familial Hypertrophic 16 Cardiomyopathy, Hypertrophic, Familial, Type 16
Spondylocostal Dysostosis 3, Autosomal Recessive	SCDO3 Spondylocostal Dysostosis, Autosomal Recessive 3 Spondylocostal Dysostosis 3 Autosomal Recessive Spondylocostal Dysostosis 3 Doid:0112361 Dysostosis, Spondylocostal, Autosomal Recessive, Type 3 Jarcho-Levin Syndrome
Mitochondrial Dna Depletion Syndrome 5	Succinate-Coa Ligase Deficiency Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria MTDPS5 Booth-Haworth-Dilling Syndrome Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Mitochondrial Dna Depletion Syndrome-5 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Encephalomyopathy Aminoacidopathy Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria Succinate-Coenzyme A Ligase Deficiency Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Dna Depletion Syndrome, Type 5
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic Cardiomyopathy 18 CMH18 Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy Familial Hypertrophic 18 Cardiomyopathy, Familial Hypertrophic 18 Cardiomyopathy, Hypertrophic, Familial, Type 18
Combined Oxidative Phosphorylation Deficiency 4	COXPD4 Combined Oxidative Phosphorylation Defect Type 4 Combined Oxidative Phosphorylation Deficiency, Type 4
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic Cardiomyopathy 17 CMH17 Cardiomyopathy, Hypertrophic, 17 Cardiomyopathy Familial Hypertrophic 17 Cardiomyopathy, Familial Hypertrophic 17 Cardiomyopathy, Hypertrophic, Familial, Type 17
Spondyloepiphyseal Dysplasia, Kimberley Type	SEDK Spondyloepiphyseal Dysplasia Kimberley Type Spondyloepiphyseal Dysplasia Type Kimberley Dysplasia, Spondyloepiphyseal, Kimberley Type
Median Rhomboid Glossitis	Persistent Tuberculum Impar Glossitis Rhomboidea Mediana Superficial Midline Glossitis
Oral Candidiasis	Thrush Candidiasis Of Mouth Oral Moniliasis Thrush, Oral Candidiasis, Oral Oral Thrush Candidiasis Equine Thrush
Hemophilia B	Christmas Disease Factor Ix Deficiency F9 Deficiency HEMB Plasma Thromboplastin Component Deficiency Congenital Factor Ix Deficiency Mild Hemophilia B Severe Hemophilia B Congenital Factor Ix Disorder Deficiency, Functional Factor Ix Hem B Mild Congenital F9 Deficiency Mild Congenital Factor Ix Deficiency Moderate Hemophilia B Moderate Congenital F9 Deficiency Moderate Congenital Factor Ix Deficiency Severe Congenital F9 Deficiency Severe Congenital Factor Ix Deficiency Bleeding Disorder In Hemophilia B Carriers Congenital F9 Deficiency Recessive X-Linked Hemophilia B
Opportunistic Mycosis	Opportunistic Mycoses Opportunistic Systemic Mycoses
Vaginal Disease	Vaginal Diseases
Fungal Infectious Disease	Mycoses Mycosis
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
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
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

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-RS05380	GFM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GFM1	MGD	MGI:107339
Macaca mulatta	GFM1	VGNC	VGNC:72719
Canis familiaris	GFM1	VGNC	VGNC:41183
Felis catus	GFM1	VGNC	VGNC:62524
Rattus norvegicus	GFM1	RGD	RGD:631396
Bos taurus	GFM1	VGNC	VGNC:29327
Others	GFM1	NCBI