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    TTC19 tetratricopeptide repeat domain 19 [ Homo sapiens (human) ]

    Gene ID: 54902, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TTC19provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 19provided by HGNC
    Primary source
    HGNC:HGNC:26006
    See related
    Ensembl:ENSG00000011295 MIM:613814; AllianceGenome:HGNC:26006
    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
    MC3DN2; 2010204O13Rik
    Summary
    This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.6), brain (RPKM 8.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    17p12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15999824..16045015)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15902040..15947641)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15903138..15932718)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15760104-15761059 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:15761456-15762052 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:15762053-15762649 Neighboring gene adenosine A2b receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15785055-15785554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15831280-15831780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15831781-15832281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15848447-15849261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15854153-15854950 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15869033-15869619 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15869620-15870205 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15870206-15870792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15870793-15871377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15871628-15872376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15872377-15873123 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15881867-15882452 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:15882453-15883039 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15885417-15886106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8214 Neighboring gene zinc finger SWIM-type containing 7 Neighboring gene MPRA-validated peak2750 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8215 Neighboring gene Sharpr-MPRA regulatory region 10193 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15947413-15947923 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15947924-15948433 Neighboring gene nuclear receptor corepressor 1 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:15998016-15998870 Neighboring gene ribosomal protein L22 pseudogene 21 Neighboring gene RNA, U6 small nuclear 314, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. Mordaunt DA, et al. Am J Med Genet A, 2015 Jun. PMID 25899669
    2. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Koch J, et al. Orphanet J Rare Dis, 2015 Apr 2. PMID 25887401, Free PMC Article
    3. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. Morino H, et al. BMC Neurol, 2014 Jan 7. PMID 24397319, Free PMC Article
    4. Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome. Atwal PS. JIMD Rep, 2014. PMID 24368687, Free PMC Article
    5. Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. Nogueira C, et al. Neurogenetics, 2013 May. PMID 23532514

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets.
      Title: Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets.
    2. TTC19 preserves the structural and functional integrity of mitochondrial respiratory complex III. UQCRFS1 produces N-terminal polypeptides, which remain bound to holocomplex III. UQCRFS1 fragments are rapidly removed, but when TTC19 is absent they accumulate within complex III, causing its structural and functional impairment.
      Title: TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.
    3. TTC19-deficient mitochondrial complex III deficiency displays substantial phenotypic variation. (Review)
      Title: Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
    4. This study showed that TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder; normal MRC complex III activity does not exclude the diagnosis.
      Title: Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
    5. A TTC19 mutation in spinocerebellar ataxia is identified in an Asian population.
      Title: Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
    6. The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts.
      Title: Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
    7. TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies.
      Title: Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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 III deficiency nuclear type 2
    MedGen: C3554605 OMIM: 615157 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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20343, MGC19520, MGC138312

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex III assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex III assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cytokinesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in midbody TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in respirasome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 19, mitochondrial
    Names
    TPR repeat protein 19

    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.

    Genomic

    1. NG_029806.2 RefSeqGene

      Range
      5002..34582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271420.2 → NP_001258349.1  tetratricopeptide repeat protein 19, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001258349.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC002553, AK055780, AW083291, CA417932
      UniProtKB/Swiss-Prot
      Q6DKK2
      Conserved Domains (3) summary
      sd00006
      Location:171 → 201
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:123 → 204
      TPR_12; Tetratricopeptide repeat
      cl26002
      Location:2 → 240
      TPR_11; TPR repeat

    2. NM_017775.4 → NP_060245.3  tetratricopeptide repeat protein 19, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_060245.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      AC002553, AK025958, AW083291, BC105128, CA417932
      Consensus CDS
      CCDS11174.2
      UniProtKB/Swiss-Prot
      A8MZ52, B3KP62, B4DN65, Q2M248, Q6DKK2, Q7L3U8, Q9H6G3, Q9NXB2
      Related
      ENSP00000261647.5, ENST00000261647.10
      Conserved Domains (2) summary
      sd00006
      Location:278 → 308
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:233 → 311
      TPR_12; Tetratricopeptide repeat

    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
      15999824..16045015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024802.3 → XP_016880291.2  tetratricopeptide repeat protein 19, mitochondrial isoform X2

      Conserved Domains (3) summary
      sd00006
      Location:230 → 265
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:230 → 311
      TPR_12; Tetratricopeptide repeat
      cl26002
      Location:102 → 326
      TPR_11; TPR repeat

    2. XM_017024801.3 → XP_016880290.2  tetratricopeptide repeat protein 19, mitochondrial isoform X1

      Conserved Domains (2) summary
      sd00006
      Location:230 → 265
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:230 → 311
      TPR_12; Tetratricopeptide repeat

    3. XM_024450814.2 → XP_024306582.1  tetratricopeptide repeat protein 19, mitochondrial isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      15902040..15947641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316578.1 → XP_054172553.1  tetratricopeptide repeat protein 19, mitochondrial isoform X2

    2. XM_054316577.1 → XP_054172552.1  tetratricopeptide repeat protein 19, mitochondrial isoform X1

    3. XM_054316579.1 → XP_054172554.1  tetratricopeptide repeat protein 19, mitochondrial isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DKK2.4 GenPept UniProtKB/Swiss-Prot:Q6DKK2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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