Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65260
Gene name	Cytochrome c oxidase assembly factor 7
Gene symbol	COA7
Synonyms (NCBI Gene)	C1orf163RESA1SCAN3SELRC1
Chromosome	1
Chromosome location	1p32.3

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
rs1558102448	C>A	Pathogenic	Coding sequence variant, missense variant
rs1558102464	C>-	Pathogenic	Coding sequence variant, frameshift variant

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
MIRT754525	hsa-miR-4455	HITS-CLIP	27418678
MIRT754524	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT754526	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT754526	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT754521	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT754521	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT754519	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT754519	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT754307	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT754308	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT754309	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT754310	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT754311	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT754312	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT754313	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT754314	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT754315	hsa-miR-302a-3p	PAR-CLIP	21572407
MIRT754316	hsa-miR-302b-3p	PAR-CLIP	21572407
MIRT754317	hsa-miR-302c-3p	PAR-CLIP	21572407
MIRT754318	hsa-miR-302d-3p	PAR-CLIP	21572407
MIRT754319	hsa-miR-302e	PAR-CLIP	21572407
MIRT754320	hsa-miR-372-3p	PAR-CLIP	21572407
MIRT754321	hsa-miR-373-3p	PAR-CLIP	21572407
MIRT754322	hsa-miR-520a-3p	PAR-CLIP	21572407
MIRT754323	hsa-miR-520b	PAR-CLIP	21572407
MIRT754324	hsa-miR-520c-3p	PAR-CLIP	21572407
MIRT754325	hsa-miR-520d-3p	PAR-CLIP	21572407
MIRT754326	hsa-miR-520e	PAR-CLIP	21572407
MIRT754327	hsa-miR-4438	PAR-CLIP	21572407
MIRT754328	hsa-miR-512-3p	PAR-CLIP	21572407
MIRT754329	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT754330	hsa-miR-520h	PAR-CLIP	21572407
MIRT754331	hsa-miR-186-3p	PAR-CLIP	21572407
MIRT754332	hsa-miR-7155-5p	PAR-CLIP	21572407
MIRT754333	hsa-miR-4731-5p	PAR-CLIP	21572407
MIRT754334	hsa-miR-5589-5p	PAR-CLIP	21572407
MIRT754335	hsa-miR-193b-5p	PAR-CLIP	21572407
MIRT754336	hsa-miR-5095	PAR-CLIP	21572407
MIRT754337	hsa-miR-7151-3p	PAR-CLIP	21572407
MIRT754338	hsa-miR-6807-5p	PAR-CLIP	21572407
MIRT754339	hsa-miR-3170	PAR-CLIP	21572407
MIRT754340	hsa-miR-6855-5p	PAR-CLIP	21572407
MIRT754517	hsa-miR-4328	PAR-CLIP	22012620
MIRT754518	hsa-miR-139-5p	PAR-CLIP	22012620
MIRT754519	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT754520	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT754521	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT754522	hsa-miR-147a	PAR-CLIP	22012620
MIRT754523	hsa-miR-2113	PAR-CLIP	22012620
MIRT754524	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT754525	hsa-miR-4455	PAR-CLIP	22012620
MIRT754526	hsa-miR-574-5p	PAR-CLIP	22012620

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
GO:0005758	Component	Mitochondrial intermembrane space	IBA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	24333015
GO:0005758	Component	Mitochondrial intermembrane space	IDA	30885959
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0008535	Process	Respiratory chain complex IV assembly	IMP	24333015
GO:0015035	Function	Protein-disulfide reductase activity	IDA	35210360

MIM	HGNC	e!Ensembl
615623	25716	ENSG00000162377

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

	KEGG
	Thermogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	Likely pathogenic; Pathogenic	rs767873164, rs961876891, rs1197945739, rs1558102448, rs780572767, rs1558102464	RCV003337787 RCV000505269 RCV000505271 RCV000767394 RCV000767395 RCV000767396 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COA7-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28964292, 30262367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory processing disorder	BEFREE	28964292, 29800988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27683825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	37750949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	27683825, 30885959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	27683825, 30885959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Coordination Disorder	Developmental dyspraxia	BEFREE	30262367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	37750949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	28964292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	27683825, 30885959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27683825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	37264311, 37750949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27683825, 37750949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	37750949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia autosomal recessive 1	Spinocerebellar ataxia	Pubtator	37264311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

COA7 (cytochrome c oxidase assembly factor 7)