LYRM7 - LYR motif containing 7 Gene

Also Known as MZM1L; MC3DN8; C5orf31

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 90624

About LYRM7

Cytogenetic location: 5q23.3-q31.1 Genomic coordinates (GRCh38): 5:131,170,944-131,205,428 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.8), thyroid (RPKM 4.7) and 24 other tissues.

Summary

Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

LYRM7 Products (2)

mRNA	Protein	Name
NM_001293735.2	NP_001280664.1	complex III assembly factor LYRM7 isoform 2
NM_181705.4	NP_859056.2	complex III assembly factor LYRM7 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	23168492	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular respiration	IDA IDA: Inferred from direct assay	23168492	GOA
involved in mitochondrial respiratory chain complex III assembly	IDA IDA: Inferred from direct assay	23168492	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	23168492	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	23168492	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

LYRM7 Protein Structure

Complex1_LYR

0
104 a.a.

Protein Preferred Names	Protein Names
complex III assembly factor LYRM7	LYR motif-containing protein 7

LYRM7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LYRM7	Q5U5X0	UQCRFS1	Homo sapiens	P47985	Anti Tag CoIP	27499296
Intra	LYRM7	Q5U5X0	UQCRFS1	Homo sapiens	P47985	Anti Bait CoIP	28380382
Intra	LYRM7	Q5U5X0	UQCRFS1	Homo sapiens	P47985	Anti Tag CoIP	28380382
Intra	LYRM7	Q5U5X0	HSCB	Homo sapiens	Q8IWL3	Anti Tag CoIP	28380382
Intra	LYRM7	Q5U5X0	HSCB	Homo sapiens	Q8IWL3	Anti Bait CoIP	28380382

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Mitochondrial Complex Iii Deficiency Nuclear Type 8 MC3DN8 Mitochondrial Complex Iii Deficiency, Nuclear 8
Isolated Complex Iii Deficiency	Isolated Coq-Cytochrome C Reductase Deficiency Isolated Coenzyme Q-Cytochrome C Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency Isolated Ubiquinone-Cytochrome C Reductase Deficiency
Mitochondrial Complex Iii Deficiency	Complex 3 Mitochondrial Respiratory Chain Deficiency Isolated Coq-Cytochrome C Reductase Deficiency Ubiquinone-Cytochrome C Oxidoreductase Deficiency
Chromosome Xp11.22 Duplication Syndrome	Mrx17 Mental Retardation, X-Linked 31 Mrx31 Xp11.22 Microduplication Syndrome X-Linked Mental Retardation 31 Mental Retardation, X-Linked 17
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
Combined Oxidative Phosphorylation Deficiency 22	COXPD22 Oxidative Phosphorylation Deficiency, Combined, Type 22
Mitochondrial Complex V Deficiency, Mitochondrial Type 1	MC5DM1 Mitochondrial Complex V Deficiency Mitochondrial Type 1 Mitochondrial Complex V Deficiency, Mitochondrial 1 Adult-Onset Ataxia And Polyneuropathy Infantile Hypertrophic Cardiomyopathy Mitochondrial Complex 5 Deficiency, Mitochondrial Type 1
Combined Oxidative Phosphorylation Deficiency 18	Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome COXPD18 Combined Oxidative Phosphorylation Deficiency, Type 18
Charcot-Marie-Tooth Disease, Type 4k	Charcot-Marie-Tooth Disease Type 4k CMT4K Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k Surf1-Related Charcot-Marie-Tooth Disease Type 4 Surf1-Related Cmt4 Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k Charcot-Marie-Tooth Disease 4k Charcot-Marie-Tooth Disease, Demyelinating, Type 4k Charcot-Marie-Tooth Neuropathy, Type 4k
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	2-Aminoadipic 2-Oxoadipic Aciduria Amoxad AAKAD 2-Ketoadipic Aciduria Alpha-Aminoadipic Aciduria Amino Adipic Aciduria Aciduria, 2-Aminoadipic 2-Oxoadipic
Charcot-Marie-Tooth Disease, Axonal, Type 2ee	CMT2EE Charcot-Marie-Tooth Neuropathy, Type 2ee Charcot-Marie-Tooth Disease Type 2ee Charcot-Marie-Tooth Disease, Axonal, 2ee
Mitochondrial Complex V Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency Nuclear Type 5 MC5DN3 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 Mitochondrial Complex V Deficiency Nuclear Type 3 MC3DN5 Mitochondrial Complex V Deficiency, Atp5e Type Mitochondrial Complex Iii Deficiency, Nuclear 5 Mitochondrial Complex V Deficiency, Nuclear Type 3 Mitochondrial Complex V Deficiency Atp5e Type Mitochondrial Complex V Deficiency Type 3 Mitochondrial Complex V Deficiency, Nuclear, Type 3
Combined Oxidative Phosphorylation Deficiency 19	COXPD19 Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Combined Oxidative Phosphorylation Deficiency, Type 19
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Leigh Syndrome, French Canadian Type Mitochondrial Complex V Deficiency Nuclear Type 4 Cytochrome C Oxidase Deficiency, French Canadian Type Lsfc Cox Deficiency, French Canadian Type MC5DN4 MC4DN5 Cox Deficiency, Saguenay-Lac-Saint-Jean Type Leigh Syndrome, Saguenay-Lac-Saint-Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 French Canadian Leigh Disease Leigh Syndrome, French-Canadian Type Leigh Syndrome , French Canadian Type Mitochondrial Complex V Deficiency, Atp5a1 Type French Canadian Type Cox Deficiency French Canadian Type Cytochrome C Oxidase Deficiency French Canadian Type Leigh Syndrome Saguenay Lac Saint Jean Type Cox Deficiency Saguenay Lac Saint Jean Type Leigh Syndrome Cox Deficiency, Saguenay Lac Saint Jean Type Leigh Syndrome, Saguenay Lac Saint Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 Mitochondrial Complex V Deficiency Atp5a1 Type Mitochondrial Complex V Deficiency Type 4 Mitochondrial Complex V Deficiency, Nuclear, Type 4
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
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-RS07925	LYRM7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LYRM7	VGNC	VGNC:63346
Bos taurus	LYRM7	VGNC	VGNC:31111
Rattus norvegicus	LYRM7	RGD	RGD:1596391
Mus musculus	LYRM7	MGD	MGI:1922780
Macaca mulatta	LYRM7	VGNC	VGNC:74376
Canis familiaris	LYRM7	VGNC	VGNC:42895
Others	LYRM7	NCBI