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    Ttc19 tetratricopeptide repeat domain 19 [ Mus musculus (house mouse) ]

    Gene ID: 72795, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ttc19provided by MGI
    Official Full Name
    tetratricopeptide repeat domain 19provided by MGI
    Primary source
    MGI:MGI:1920045
    See related
    Ensembl:ENSMUSG00000042298 AllianceGenome:MGI:1920045
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2010204O13Rik; 2810460C24Rik
    Summary
    Predicted to be involved in mitochondrial respiratory chain complex III assembly. Located in mitochondrion. Is expressed in dorsal root ganglion; facial ganglion; glossopharyngeal ganglion; head; and trigeminal ganglion. Human ortholog(s) of this gene implicated in mitochondrial complex III deficiency nuclear type 2. Orthologous to human TTC19 (tetratricopeptide repeat domain 19). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 13.5), frontal lobe adult (RPKM 13.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ttc19 in Genome Data Viewer
    Location:
    11 B2; 11 38.02 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (62172256..62208611)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (62281429..62331879)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_29696 Neighboring gene adenosine A2b receptor Neighboring gene STARR-positive B cell enhancer ABC_E9139 Neighboring gene zinc finger SWIM-type containing 7 Neighboring gene anaphase-promoting complex subunit 15 pseudogene Neighboring gene nuclear receptor co-repressor 1 Neighboring gene STARR-seq mESC enhancer starr_29697 Neighboring gene STARR-seq mESC enhancer starr_29699 Neighboring gene STARR-seq mESC enhancer starr_29702 Neighboring gene STARR-seq mESC enhancer starr_29703 Neighboring gene STARR-seq mESC enhancer starr_29704 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class L Neighboring gene STARR-seq mESC enhancer starr_29710 Neighboring gene STARR-seq mESC enhancer starr_29712 Neighboring gene centromere protein V

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis. Radaelli E, et al. Elife, 2023 Jul 28. PMID 37505079, Free PMC Article
    2. TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III. Bottani E, et al. Mol Cell, 2017 Jul 6. PMID 28673544
    3. PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome. Spinazzi M, et al. Proc Natl Acad Sci U S A, 2019 Jan 2. PMID 30578322, Free PMC Article
    4. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Ghezzi D, et al. Nat Genet, 2011 Mar. PMID 21278747
    5. Identification and analysis of genes from the mouse otic vesicle and their association with developmental subprocesses through in situ hybridization. Powles N, et al. Dev Biol, 2004 Apr 1. PMID 15031102

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial respiratory chain complex III assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    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.

    mRNA and Protein(s)

    1. NM_028360.3 → NP_082636.3  tetratricopeptide repeat protein 19, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_082636.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL596110
      Consensus CDS
      CCDS36177.1
      UniProtKB/Swiss-Prot
      Q5NCZ3, Q5NCZ4, Q8CC21, Q8K1X2, Q8R0G6, Q9CYS5
      Related
      ENSMUSP00000054367.7, ENSMUST00000050646.13
      Conserved Domains (2) summary
      sd00006
      Location:220 → 255
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:217 → 301
      TPR_12; Tetratricopeptide repeat

    2. NM_029704.3 → NP_083980.2  tetratricopeptide repeat protein 19, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) is shorter and lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AL596110
      Consensus CDS
      CCDS48817.1
      UniProtKB/Swiss-Prot
      Q8CC21
      UniProtKB/TrEMBL
      Q9D857
      Related
      ENSMUSP00000098636.5, ENSMUST00000101075.11
      Conserved Domains (2) summary
      sd00006
      Location:207 → 242
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:204 → 288
      TPR_12; Tetratricopeptide repeat

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      62172256..62208611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534321.5 → XP_006534384.1  tetratricopeptide repeat protein 19, mitochondrial isoform X1

      Conserved Domains (2) summary
      sd00006
      Location:220 → 255
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:218 → 301
      TPR_12; Tetratricopeptide repeat

    2. XM_036157019.1 → XP_036012912.1  tetratricopeptide repeat protein 19, mitochondrial isoform X2

      Conserved Domains (2) summary
      sd00006
      Location:207 → 242
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:205 → 288
      TPR_12; Tetratricopeptide repeat

    RNA

    1. XR_001780061.3 RNA Sequence

    2. XR_001780062.3 RNA Sequence

    3. XR_388537.5 RNA Sequence

    4. XR_003949515.2 RNA Sequence

    5. XR_001780063.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CC21.1 GenPept UniProtKB/Swiss-Prot:Q8CC21

    Gene LinkOut

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

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