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

    Gene ID: 54902, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See TTC19 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (15999771..16045428)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15902694..15932723)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene adenosine A2b receptor Neighboring gene zinc finger SWIM-type containing 7 Neighboring gene nuclear receptor corepressor 1 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 11 Neighboring gene ribosomal protein L22 pseudogene 21 Neighboring gene RNA, U6 small nuclear 314, pseudogene

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20343, MGC19520, MGC138312

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_029806.1 RefSeqGene

      Range
      5001..35030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271420.2NP_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:171201
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:123204
      TPR_12; Tetratricopeptide repeat
      cl26002
      Location:2240
      TPR_11; TPR repeat
    2. NM_017775.4NP_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
      Q6DKK2
      UniProtKB/TrEMBL
      A0A024RD83
      Related
      ENSP00000261647.5, ENST00000261647.10
      Conserved Domains (2) summary
      sd00006
      Location:278308
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:233311
      TPR_12; Tetratricopeptide repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      15999771..16045428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      sd00006
      Location:230265
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:230311
      TPR_12; Tetratricopeptide repeat
    2. XM_017024802.2XP_016880291.2  tetratricopeptide repeat protein 19, mitochondrial isoform X2

      Conserved Domains (3) summary
      sd00006
      Location:230265
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:230311
      TPR_12; Tetratricopeptide repeat
      cl26002
      Location:102326
      TPR_11; TPR repeat
    3. XM_024450814.1XP_024306582.1  tetratricopeptide repeat protein 19, mitochondrial isoform X3

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