Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90624
Gene name Gene Name - the full gene name approved by the HGNC.
LYR motif containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LYRM7
Synonyms (NCBI Gene) Gene synonyms aliases
C5orf31, MC3DN8, MZM1L
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q23.3-q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777433 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs869025602 ->G Pathogenic Intron variant
rs869025603 ->TTA Pathogenic Coding sequence variant, intron variant, inframe insertion
rs869025604 C>G,T Likely-pathogenic, pathogenic Coding sequence variant, intron variant, missense variant, stop gained
rs869025605 A>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024706 hsa-miR-215-5p Microarray 19074876
MIRT026378 hsa-miR-192-5p Microarray 19074876
MIRT030859 hsa-miR-21-5p Microarray 18591254
MIRT044132 hsa-miR-30e-5p CLASH 23622248
MIRT708664 hsa-miR-4781-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23168492, 24606901, 27499296, 28380382, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix IBA
GO:0005759 Component Mitochondrial matrix IDA 23168492
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615831 28072 ENSG00000186687
Protein
UniProt ID Q5U5X0
Protein name Complex III assembly factor LYRM7 (LYR motif-containing protein 7)
Protein function Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05347 Complex1_LYR 5 62 Complex 1 protein (LYR family) Family
Sequence
MGRAVKVLQLFKTLHRTRQQVFKNDARALEAARIKINEEFKNNKSETSSKKIEELMKIGS
DV
ELLLRTSVIQGIHTDHNTLKLVPRKDLLVENVPYCDAPTQKQ
Sequence length 104
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex III deficiency nuclear type 8 rs587777433, rs869025602, rs869025603, rs869025604, rs869025605 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 24014394
Bovine Respiratory Disease Complex Associate 27151179
Brain Diseases Associate 24014394, 26912632
Cardiomyopathies Associate 38291374
Coma Associate 26912632
Death Associate 26912632
Growth Disorders Associate 24014394
Idiopathic Pulmonary Fibrosis Associate 38035073
Infections Associate 26912632
Leukoencephalopathies Associate 26912632