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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51204
Gene name Gene Name - the full gene name approved by the HGNC.	Translational activator of cytochrome c oxidase I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TACO1
Synonyms (NCBI Gene) Gene synonyms aliases	CCDC44, MC4DN8
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs182355403	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587776513	->C	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs759254294	C>-,CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793277	T>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031464	hsa-miR-16-5p	Proteomics	18668040
MIRT040101	hsa-miR-615-3p	CLASH	23622248
MIRT696278	hsa-miR-4426	HITS-CLIP	23313552
MIRT696277	hsa-miR-4647	HITS-CLIP	23313552
MIRT696276	hsa-miR-4662b	HITS-CLIP	23313552
MIRT696275	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696274	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT696273	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT696272	hsa-miR-184	HITS-CLIP	23313552
MIRT696271	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696270	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696268	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696269	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696267	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696266	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696265	hsa-miR-7977	HITS-CLIP	23313552
MIRT696264	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT696263	hsa-miR-4804-5p	HITS-CLIP	23313552
MIRT696262	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696261	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696260	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696259	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696258	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696257	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696256	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696255	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696254	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696253	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696252	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696251	hsa-miR-3122	HITS-CLIP	23313552
MIRT696250	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696249	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696248	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT652851	hsa-miR-4432	HITS-CLIP	23824327
MIRT652850	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT652849	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT652848	hsa-miR-4418	HITS-CLIP	23824327
MIRT652847	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT652846	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT652845	hsa-miR-217	HITS-CLIP	23824327
MIRT652844	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT652843	hsa-miR-451b	HITS-CLIP	23824327
MIRT652842	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT652841	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT652840	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT652839	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT652838	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT652837	hsa-miR-4522	HITS-CLIP	23824327
MIRT652836	hsa-miR-4696	HITS-CLIP	23824327
MIRT652835	hsa-miR-661	HITS-CLIP	23824327
MIRT652834	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT652833	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT652832	hsa-miR-6508-3p	HITS-CLIP	23824327
MIRT652831	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT652830	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT652829	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT652828	hsa-miR-7703	HITS-CLIP	23824327
MIRT652827	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT652826	hsa-miR-6510-3p	HITS-CLIP	23824327
MIRT440991	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440991	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT696259	hsa-miR-1273h-5p	PAR-CLIP	27292025
MIRT696270	hsa-miR-149-3p	PAR-CLIP	27292025
MIRT696258	hsa-miR-30b-3p	PAR-CLIP	27292025
MIRT696257	hsa-miR-3689a-3p	PAR-CLIP	27292025
MIRT696256	hsa-miR-3689b-3p	PAR-CLIP	27292025
MIRT696255	hsa-miR-3689c	PAR-CLIP	27292025
MIRT696268	hsa-miR-4728-5p	PAR-CLIP	27292025
MIRT696254	hsa-miR-6779-5p	PAR-CLIP	27292025
MIRT696253	hsa-miR-6780a-5p	PAR-CLIP	27292025
MIRT696269	hsa-miR-6785-5p	PAR-CLIP	27292025
MIRT696266	hsa-miR-6799-5p	PAR-CLIP	27292025
MIRT696267	hsa-miR-6883-5p	PAR-CLIP	27292025
MIRT696271	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT696278	hsa-miR-4426	HITS-CLIP	23313552
MIRT696277	hsa-miR-4647	HITS-CLIP	23313552
MIRT696276	hsa-miR-4662b	HITS-CLIP	23313552
MIRT696275	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696274	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT696273	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT696272	hsa-miR-184	HITS-CLIP	23313552
MIRT696271	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696270	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696268	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696269	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696267	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696266	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696265	hsa-miR-7977	HITS-CLIP	23313552
MIRT696264	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT696263	hsa-miR-4804-5p	HITS-CLIP	23313552
MIRT696262	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696261	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696260	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696259	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696258	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696257	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696256	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696255	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696254	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696253	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696252	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696251	hsa-miR-3122	HITS-CLIP	23313552
MIRT696250	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696249	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696248	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT652851	hsa-miR-4432	HITS-CLIP	23824327
MIRT652850	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT652849	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT652848	hsa-miR-4418	HITS-CLIP	23824327
MIRT652847	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT652846	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT652845	hsa-miR-217	HITS-CLIP	23824327
MIRT652844	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT652843	hsa-miR-451b	HITS-CLIP	23824327
MIRT652842	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT652841	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT652840	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT652839	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT652838	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT652837	hsa-miR-4522	HITS-CLIP	23824327
MIRT652836	hsa-miR-4696	HITS-CLIP	23824327
MIRT652835	hsa-miR-661	HITS-CLIP	23824327
MIRT652834	hsa-miR-4640-5p	HITS-CLIP	23824327
MIRT652833	hsa-miR-4726-5p	HITS-CLIP	23824327
MIRT652832	hsa-miR-6508-3p	HITS-CLIP	23824327
MIRT652831	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT652830	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT652829	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT652828	hsa-miR-7703	HITS-CLIP	23824327
MIRT652827	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT652826	hsa-miR-6510-3p	HITS-CLIP	23824327
MIRT1408469	hsa-miR-1224-3p	CLIP-seq
MIRT1408470	hsa-miR-1260	CLIP-seq
MIRT1408471	hsa-miR-1260b	CLIP-seq
MIRT1408472	hsa-miR-1280	CLIP-seq
MIRT1408473	hsa-miR-3173-3p	CLIP-seq
MIRT1408474	hsa-miR-3176	CLIP-seq
MIRT1408475	hsa-miR-34b	CLIP-seq
MIRT1408476	hsa-miR-370	CLIP-seq
MIRT1408477	hsa-miR-3922-3p	CLIP-seq
MIRT1408478	hsa-miR-4477a	CLIP-seq
MIRT1408479	hsa-miR-4663	CLIP-seq
MIRT1408480	hsa-miR-4695-5p	CLIP-seq
MIRT1408481	hsa-miR-4758-3p	CLIP-seq
MIRT1408482	hsa-miR-4795-3p	CLIP-seq
MIRT1408483	hsa-miR-532-3p	CLIP-seq
MIRT2122542	hsa-miR-1252	CLIP-seq
MIRT2122543	hsa-miR-3064-3p	CLIP-seq
MIRT2122544	hsa-miR-3914	CLIP-seq
MIRT2122545	hsa-miR-4293	CLIP-seq
MIRT2122546	hsa-miR-4476	CLIP-seq
MIRT2122547	hsa-miR-4532	CLIP-seq
MIRT2122548	hsa-miR-4533	CLIP-seq
MIRT2122549	hsa-miR-596	CLIP-seq
MIRT2122542	hsa-miR-1252	CLIP-seq
MIRT2344956	hsa-miR-1266	CLIP-seq
MIRT2344957	hsa-miR-2278	CLIP-seq
MIRT2122543	hsa-miR-3064-3p	CLIP-seq
MIRT2344958	hsa-miR-3127-5p	CLIP-seq
MIRT2344959	hsa-miR-325	CLIP-seq
MIRT2344960	hsa-miR-339-3p	CLIP-seq
MIRT1408475	hsa-miR-34b	CLIP-seq
MIRT2122544	hsa-miR-3914	CLIP-seq
MIRT2344961	hsa-miR-3918	CLIP-seq
MIRT2122546	hsa-miR-4476	CLIP-seq
MIRT1408478	hsa-miR-4477a	CLIP-seq
MIRT2344962	hsa-miR-4518	CLIP-seq
MIRT2122547	hsa-miR-4532	CLIP-seq
MIRT2122548	hsa-miR-4533	CLIP-seq
MIRT1408482	hsa-miR-4795-3p	CLIP-seq
MIRT2344963	hsa-miR-4797-5p	CLIP-seq
MIRT2344964	hsa-miR-628-3p	CLIP-seq
MIRT2638099	hsa-miR-2861	CLIP-seq
MIRT2638100	hsa-miR-3121-5p	CLIP-seq
MIRT1408473	hsa-miR-3173-3p	CLIP-seq
MIRT1408474	hsa-miR-3176	CLIP-seq
MIRT2638101	hsa-miR-3189-3p	CLIP-seq
MIRT1408476	hsa-miR-370	CLIP-seq
MIRT1408477	hsa-miR-3922-3p	CLIP-seq
MIRT2638102	hsa-miR-4421	CLIP-seq
MIRT1408480	hsa-miR-4695-5p	CLIP-seq
MIRT1408481	hsa-miR-4758-3p	CLIP-seq
MIRT2638103	hsa-miR-4761-5p	CLIP-seq
MIRT2638104	hsa-miR-635	CLIP-seq
MIRT2638100	hsa-miR-3121-5p	CLIP-seq
MIRT1408473	hsa-miR-3173-3p	CLIP-seq
MIRT2638101	hsa-miR-3189-3p	CLIP-seq
MIRT2638102	hsa-miR-4421	CLIP-seq
MIRT1408480	hsa-miR-4695-5p	CLIP-seq
MIRT1408481	hsa-miR-4758-3p	CLIP-seq
MIRT2638103	hsa-miR-4761-5p	CLIP-seq
MIRT2638104	hsa-miR-635	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003729	Function	MRNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0033617	Process	Mitochondrial cytochrome c oxidase assembly	IEA
GO:0061743	Process	Motor learning	IEA
GO:0070129	Process	Regulation of mitochondrial translation	IEA
GO:0097177	Function	Mitochondrial ribosome binding	IEA

MIM	HGNC	e!Ensembl
612958	24316	ENSG00000136463

Protein

UniProt ID

Q9BSH4

Protein name

Translational activator of cytochrome c oxidase 1 (Coiled-coil domain-containing protein 44) (Translational activator of mitochondrially-encoded cytochrome c oxidase I)

Protein function

Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01709	Transcrip_reg	61 → 296	Transcriptional regulator	Family

Sequence

MSAWAAASLSRAAARCLLARGPGVRAAPPRDPRPSHPEPRGCGAAPGRTLHFTAAVPAGH
NKWSKVRHIKGPKDVERSRIFSKLCLNIRLAVKEGGPNPEHNSNLANILEVCRSKHMPKS
TIETALKMEKSKDTYLLYEGRGPGGSSLLIEALSNSSHKCQADIRHILNKNGGVMAVGAR
HSFDKKGVIVVEVEDREKKAVNLERALEMAIEAGAEDVKETEDEEERNVFKFICDASSLH
QVRKKLDSLGLCSVSCALEFIPNSKVQLAEPDLEQAAHLIQALSNHEDVIHVYDNIE

Sequence length

297

Interactions

View interactions

	Reactome
			TP53 Regulates Metabolic Genes Respiratory electron transport

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mitochondrial Complex Deficiency	Mitochondrial complex 4 deficiency, nuclear type 8	rs587776513, rs765093638, rs759254294	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
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.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Leigh Disease	Associate	32444556
Leukoencephalopathies	Associate	32444556
Mitochondrial Diseases	Associate	32444556
Myotonic Dystrophy	Associate	38240888

TACO1 (translational activator of cytochrome c oxidase I)