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

    Gene ID: 51204, updated on 3-Dec-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TACO1 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61611272-61611775 Neighboring gene potassium voltage-gated channel subfamily H member 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:61626768-61627752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8820 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:61640093-61640313 Neighboring gene DDB1 and CUL4 associated factor 7 Neighboring gene RNA, U6 small nuclear 288, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61687966-61688466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61688467-61688967 Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8824 Neighboring gene mitogen-activated protein kinase kinase kinase 3 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_016979.2 RefSeqGene

      Range
      5002..12472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016360.4NP_057444.2  translational activator of cytochrome c oxidase 1

      See identical proteins and their annotated locations for NP_057444.2

      Status: REVIEWED

      Source sequence(s)
      AK315375, BC005049
      Consensus CDS
      CCDS11640.1
      UniProtKB/Swiss-Prot
      B2RD21, Q8N3N6, Q9BSH4, Q9UI60
      UniProtKB/TrEMBL
      A0A804HJB7
      Related
      ENSP00000258975.6, ENST00000258975.7
      Conserved Domains (1) summary
      pfam01709
      Location:61296
      Transcrip_reg; Transcriptional regulator

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63600895..63608365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64471513..64478982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)