Gene Gene information from NCBI Gene database.
Entrez ID 90624
Gene name LYR motif containing 7
Gene symbol LYRM7
Synonyms (NCBI Gene)
C5orf31MC3DN8MZM1L
Chromosome 5
Chromosome location 5q23.3-q31.1
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
SNPs SNP information provided by dbSNP.
5
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.
1438
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615831 28072 ENSG00000186687
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex III deficiency nuclear type 1 Pathogenic rs1371841991 RCV003320503
Mitochondrial complex III deficiency nuclear type 8 Likely pathogenic; Pathogenic rs531275086, rs587777433, rs2479641491, rs869025602, rs869025603, rs869025604, rs869025605 RCV001783620
RCV000122742
RCV002294538
RCV000208754
RCV000208761
RCV000208772
RCV000208752
RCV000791101
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs183113457 RCV005918942
Cervical cancer Likely benign rs183113457 RCV005918943
Lung cancer Likely benign rs183113457 RCV005918946
LYRM7-related disorder Likely benign rs144249672, rs1580696985 RCV003912762
RCV003942891
Associations from Text MiningDisease 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