COA7 (cytochrome c oxidase assembly factor 7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65260
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase assembly factor 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COA7
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf163, RESA1, SCAN3, SELRC1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs780572767 T>C Pathogenic Missense variant, coding sequence variant
rs780593265 G>A Likely-pathogenic Missense variant, coding sequence variant
rs961876891 T>C Pathogenic Missense variant, coding sequence variant
rs1197945739 C>A Pathogenic Splice donor variant
rs1553254475 ->ATGACCCAGGT Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(57)
miRTarBase ID miRNA Experiments Reference
MIRT754522 hsa-miR-147a HITS-CLIP 27418678
MIRT754522 hsa-miR-147a HITS-CLIP 27418678
MIRT754523 hsa-miR-2113 HITS-CLIP 27418678
MIRT754517 hsa-miR-4328 HITS-CLIP 27418678
MIRT754525 hsa-miR-4455 HITS-CLIP 27418678
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30885959, 32296183, 32814053, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615623 25716 ENSG00000162377
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96BR5
Protein name Cytochrome c oxidase assembly factor 7 (Beta-lactamase hcp-like protein) (Respiratory chain assembly factor 1) (Sel1 repeat-containing protein 1)
Protein function Required for assembly of mitochondrial respiratory chain complex I and complex IV.
PDB 7MQZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08238 Sel1 68 → 103 Sel1 repeat Repeat
PF08238 Sel1 108 → 146 Sel1 repeat Repeat
PF08238 Sel1 147 → 183 Sel1 repeat Repeat
Sequence 
MAGMVDFQDEEQVKSFLENMEVECNYHCYHEKDPDGCYRLVDYLEGIRKNFDEAAKVLKF
NCEENQHSDSCYKLGAYYVTGKGGLTQDLKAAARCFLMACEKPGKKSIAACHNVGLLAHD
GQVNEDGQPDLGKARDYYTRACDGGYTSSCFNLSAMFLQGAPGFPKDMDLACKYSMKACD
LGHIWACANASRMYKLGDGVDKDEAKAEVLKNRAQQLHKEQQKGVQPLTFG
Sequence length 231
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Thermogenesis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia, WITH AXONAL NEUROPATHY Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 rs961876891, rs1197945739, rs1558102448, rs780572767, rs1558102464 N/A
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 37750949
Brain Diseases Associate 27683825
Cerebellar Ataxia Associate 37750949
Cytochrome c Oxidase Deficiency Associate 27683825, 30885959
Dystonia Associate 37750949
Inherited Peripheral Neuropathy Associate 37750949
Leukoencephalopathies Associate 27683825, 37750949
Machado Joseph Disease Associate 37750949
Nervous System Diseases Associate 27683825
Parkinson Disease Secondary Associate 37264311, 37750949