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Protein

Tetratricopeptide repeat protein 19, mitochondrial

Gene

TTC19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity (PubMed:28673544).2 Publications

Caution

Was reported to be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its interaction with CHMP4B (PubMed:20208530). According to the same authors, localizes to the centrosome during all stages of the cell cycle and is recruited to the midbody during cytokinesis (PubMed:20208530). However, the midbody localization could not be confirmed by others (PubMed:21278747).2 Publications

GO - Biological processi

  • cytokinesis Source: UniProtKB
  • mitochondrial respiratory chain complex III assembly Source: UniProtKB
  • oxidation-reduction process Source: UniProtKB-KW

Keywordsi

Biological processCell cycle, Cell division, Electron transport, Respiratory chain, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Tetratricopeptide repeat protein 19, mitochondrial
Short name:
TPR repeat protein 19
Gene namesi
Name:TTC19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000011295.15
HGNCiHGNC:26006 TTC19
MIMi613814 gene
neXtProtiNX_Q6DKK2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 2 (MC3DN2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
See also OMIM:615157

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNETi54902
MalaCardsiTTC19
MIMi615157 phenotype
OpenTargetsiENSG00000011295
Orphaneti1460 Isolated CoQ-cytochrome C reductase deficiency
PharmGKBiPA134922384

Polymorphism and mutation databases

BioMutaiTTC19
DMDMi332278244

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 70MitochondrionSequence analysisAdd BLAST70
ChainiPRO_000010640771 – 380Tetratricopeptide repeat protein 19, mitochondrialAdd BLAST310

Proteomic databases

EPDiQ6DKK2
MaxQBiQ6DKK2
PaxDbiQ6DKK2
PeptideAtlasiQ6DKK2
PRIDEiQ6DKK2

PTM databases

iPTMnetiQ6DKK2
PhosphoSitePlusiQ6DKK2

Expressioni

Gene expression databases

BgeeiENSG00000011295
CleanExiHS_TTC19
ExpressionAtlasiQ6DKK2 baseline and differential
GenevisibleiQ6DKK2 HS

Organism-specific databases

HPAiHPA023010
HPA052380

Interactioni

Subunit structurei

Binds to the mature mitochondrial complex III dimer, after the incorporation of the Rieske protein UQCRFS1 (PubMed:28673544). Interacts with UQCRC1 and UQCRFS1 (By similarity). Interacts with ZFYVE26 and CHMP4B (PubMed:20208530).By similarity2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120248, 48 interactors
IntActiQ6DKK2, 37 interactors
MINTiQ6DKK2
STRINGi9606.ENSP00000261647

Structurei

3D structure databases

ProteinModelPortaliQ6DKK2
SMRiQ6DKK2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati136 – 169TPR 1Add BLAST34
Repeati179 – 212TPR 2Add BLAST34
Repeati237 – 270TPR 3Add BLAST34
Repeati279 – 312TPR 4Add BLAST34
Repeati318 – 351TPR 5Add BLAST34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi73 – 76Poly-Glu4

Sequence similaritiesi

Belongs to the TTC19 family.Curated

Keywords - Domaini

Repeat, TPR repeat, Transit peptide

Phylogenomic databases

eggNOGiKOG1840 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00390000009194
HOVERGENiHBG056672
InParanoidiQ6DKK2
KOiK18169
OMAiGMKQEDN
OrthoDBiEOG091G0AH0
TreeFamiTF314010

Family and domain databases

Gene3Di1.25.40.10, 2 hits
InterProiView protein in InterPro
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
SMARTiView protein in SMART
SM00028 TPR, 4 hits
SUPFAMiSSF48452 SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50293 TPR_REGION, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q6DKK2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFRLLSWSLG RGFLRAAGRR CRGCSARLLP GLAGGPGPEV QVPPSRVAPH
60 70 80 90 100
GRGPGLLPLL AALAWFSRPA AAEEEEQQGA DGAAAEDGAD EAEAEIIQLL
110 120 130 140 150
KRAKLSIMKD EPEEAELILH DALRLAYQTD NKKAITYTYD LMANLAFIRG
160 170 180 190 200
QLENAEQLFK ATMSYLLGGG MKQEDNAIIE ISLKLASIYA AQNRQEFAVA
210 220 230 240 250
GYEFCISTLE EKIEREKELA EDIMSVEEKA NTHLLLGMCL DACARYLLFS
260 270 280 290 300
KQPSQAQRMY EKALQISEEI QGERHPQTIV LMSDLATTLD AQGRFDEAYI
310 320 330 340 350
YMQRASDLAR QINHPELHMV LSNLAAVLMH RERYTQAKEI YQEALKQAKL
360 370 380
KKDEISVQHI REELAELSKK SRPLTNSVKL
Length:380
Mass (Da):42,457
Last modified:May 3, 2011 - v4
Checksum:iAA082C9F6F8EE429
GO

Sequence cautioni

The sequence AAH11698 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH73796 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI05129 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI12108 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA91103 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15296 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG51574 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG51820 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti282M → V in BAG51574 (PubMed:14702039).Curated1
Sequence conflicti366E → K in BAB15296 (PubMed:14702039).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000350 mRNA Translation: BAA91103.1 Different initiation.
AK025958 mRNA Translation: BAB15296.1 Different initiation.
AK055780 mRNA Translation: BAG51574.1 Different initiation.
AK056878 mRNA Translation: BAG51820.1 Different initiation.
AK297783 mRNA Translation: BAG60127.1
AC006251 Genomic DNA No translation available.
AC002553 Genomic DNA No translation available.
CH471222 Genomic DNA Translation: EAX04490.1
BC011698 mRNA Translation: AAH11698.2 Different initiation.
BC073796 mRNA Translation: AAH73796.1 Different initiation.
BC105128 mRNA Translation: AAI05129.1 Different initiation.
BC112107 mRNA Translation: AAI12108.1 Different initiation.
CCDSiCCDS11174.2
RefSeqiNP_001258349.1, NM_001271420.1
NP_060245.3, NM_017775.3
UniGeneiHs.462316

Genome annotation databases

EnsembliENST00000261647; ENSP00000261647; ENSG00000011295
GeneIDi54902
KEGGihsa:54902
UCSCiuc002gph.4 human

Similar proteinsi

Entry informationi

Entry nameiTTC19_HUMAN
AccessioniPrimary (citable) accession number: Q6DKK2
Secondary accession number(s): A8MZ52
, B3KP62, B4DN65, Q2M248, Q7L3U8, Q9H6G3, Q9NXB2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: May 3, 2011
Last modified: May 23, 2018
This is version 127 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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