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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
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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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