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

Gene ID: 54902, updated on 4-Oct-2020

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
109.20200815 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 Functions

What'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
    5445..35025
    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 Updated Annotation Release 109.20200815

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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