TACO1 translational activator of cytochrome c oxidase I [Homo sapiens (human)] - Gene

Summary

Official Symbol: TACO1provided by HGNC
Official Full Name: translational activator of cytochrome c oxidase Iprovided by HGNC
Primary source: HGNC:HGNC:24316
See related: Ensembl:ENSG00000136463 MIM:612958; AllianceGenome:HGNC:24316
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CCDC44; MC4DN8
Summary: 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]
Expression: Ubiquitous expression in kidney (RPKM 17.5), liver (RPKM 13.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (63600895..63608365)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (64471513..64478982)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (61678254..61685725)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

report on clinical findings of patients with TACO1 gene mutation leading to cytochrome c oxidase deficiency.
Title: Clinical and neuropathological findings in patients with TACO1 mutations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Study identified a specific defect in the synthesis of the mitochondrial DNA-encoded COX I subunit in a pedigree segregating late-onset Leigh syndrome and cytochrome c oxidase (COX) deficiency
Title: Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex 4 deficiency, nuclear type 8 MedGen: C5436689 OMIM: 619052 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

SHGC-36189 (e-PCR)
- UniSTS:64583

D10S16 (e-PCR)
- UniSTS:155756

G35510 (e-PCR)
- UniSTS:44150

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mRNA binding	IEA Inferred from Electronic Annotation more info
enables mitochondrial ribosome binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables rRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mitochondrial cytochrome c oxidase assembly	IEA Inferred from Electronic Annotation more info
involved_in motor learning	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitochondrial translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: translational activator of cytochrome c oxidase 1

Names: clone HQ0477 PRO0477p; coiled-coil domain-containing protein 44; translational activator of COX I; translational activator of mitochondrially encoded cytochrome c oxidase I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.