UniProtKB - Q6DKK2 (TTC19_HUMAN)
Protein
Tetratricopeptide repeat protein 19, mitochondrial
Gene
TTC19
Organism
Homo sapiens (Human)
Status
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
- mitochondrial respiratory chain complex III assembly Source: UniProtKB
- mitotic cytokinesis Source: UniProtKB
Keywordsi
Biological process | Cell cycle, Cell division, Electron transport, Respiratory chain, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q6DKK2 |
Names & Taxonomyi
Protein namesi | Recommended name: Tetratricopeptide repeat protein 19, mitochondrialShort name: TPR repeat protein 19 |
Gene namesi | Name:TTC19 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26006, TTC19 |
MIMi | 613814, gene |
neXtProti | NX_Q6DKK2 |
VEuPathDBi | HostDB:ENSG00000011295.15 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 1 Publication
Cytoskeleton
- centrosome Source: UniProtKB
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
- mitochondrion Source: HPA
Other locations
- midbody Source: UniProtKB
- respirasome Source: UniProtKB-KW
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex III deficiency, nuclear 2 (MC3DN2)1 Publication
The disease is caused by variants 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.
Related information in OMIMKeywords - Diseasei
Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 54902 |
MalaCardsi | TTC19 |
MIMi | 615157, phenotype |
OpenTargetsi | ENSG00000011295 |
Orphaneti | 1460, Isolated complex III deficiency |
PharmGKBi | PA134922384 |
Miscellaneous databases
Pharosi | Q6DKK2, Tbio |
Genetic variation databases
BioMutai | TTC19 |
DMDMi | 332278244 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 70 | MitochondrionSequence analysisAdd BLAST | 70 | |
ChainiPRO_0000106407 | 71 – 380 | Tetratricopeptide repeat protein 19, mitochondrialAdd BLAST | 310 |
Proteomic databases
EPDi | Q6DKK2 |
jPOSTi | Q6DKK2 |
MassIVEi | Q6DKK2 |
MaxQBi | Q6DKK2 |
PaxDbi | Q6DKK2 |
PeptideAtlasi | Q6DKK2 |
PRIDEi | Q6DKK2 |
ProteomicsDBi | 66236 |
PTM databases
iPTMneti | Q6DKK2 |
MetOSitei | Q6DKK2 |
PhosphoSitePlusi | Q6DKK2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000011295, Expressed in epithelium of mammary gland and 236 other tissues |
ExpressionAtlasi | Q6DKK2, baseline and differential |
Genevisiblei | Q6DKK2, HS |
Organism-specific databases
HPAi | ENSG00000011295, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ6DKK2
Protein-protein interaction databases
BioGRIDi | 120248, 98 interactors |
IntActi | Q6DKK2, 77 interactors |
MINTi | Q6DKK2 |
STRINGi | 9606.ENSP00000261647 |
Miscellaneous databases
RNActi | Q6DKK2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 136 – 169 | TPR 1Add BLAST | 34 | |
Repeati | 179 – 212 | TPR 2Add BLAST | 34 | |
Repeati | 237 – 270 | TPR 3Add BLAST | 34 | |
Repeati | 279 – 312 | TPR 4Add BLAST | 34 | |
Repeati | 318 – 351 | TPR 5Add BLAST | 34 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 73 – 76 | Poly-Glu | 4 |
Sequence similaritiesi
Belongs to the TTC19 family.Curated
Keywords - Domaini
Repeat, TPR repeat, Transit peptidePhylogenomic databases
eggNOGi | KOG1840, Eukaryota |
GeneTreei | ENSGT00390000009194 |
HOGENOMi | CLU_057135_1_0_1 |
InParanoidi | Q6DKK2 |
OMAi | LCIQREQ |
OrthoDBi | 864714at2759 |
TreeFami | TF314010 |
Family and domain databases
Gene3Di | 1.25.40.10, 2 hits |
InterProi | View protein in InterPro IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat IPR040395, TTC19 |
PANTHERi | PTHR13143, PTHR13143, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 4 hits |
SUPFAMi | SSF48452, SSF48452, 2 hits |
PROSITEi | View protein in PROSITE PS50293, TPR_REGION, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
Q6DKK2-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EJA1 | K7EJA1_HUMAN | Tetratricopeptide repeat protein 19... | TTC19 | 149 | Annotation score: | ||
K7EKH7 | K7EKH7_HUMAN | Tetratricopeptide repeat protein 19... | TTC19 | 99 | Annotation score: | ||
K7ERR1 | K7ERR1_HUMAN | Tetratricopeptide repeat protein 19... | TTC19 | 63 | Annotation score: | ||
K7ELX2 | K7ELX2_HUMAN | Tetratricopeptide repeat protein 19... | TTC19 | 172 | Annotation score: | ||
K7EKS0 | K7EKS0_HUMAN | Tetratricopeptide repeat protein 19... | TTC19 | 166 | Annotation score: |
Sequence cautioni
The sequence AAH11698 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH73796 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAI05129 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAI12108 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA91103 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15296 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG51574 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG51820 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 282 | M → V in BAG51574 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 366 | E → K in BAB15296 (PubMed:14702039).Curated | 1 |
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. |
CCDSi | CCDS11174.2 |
RefSeqi | NP_001258349.1, NM_001271420.1 NP_060245.3, NM_017775.3 |
Genome annotation databases
Ensembli | ENST00000261647; ENSP00000261647; ENSG00000011295 |
GeneIDi | 54902 |
KEGGi | hsa:54902 |
UCSCi | uc002gph.4, human |
Similar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS11174.2 |
RefSeqi | NP_001258349.1, NM_001271420.1 NP_060245.3, NM_017775.3 |
3D structure databases
SMRi | Q6DKK2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120248, 98 interactors |
IntActi | Q6DKK2, 77 interactors |
MINTi | Q6DKK2 |
STRINGi | 9606.ENSP00000261647 |
PTM databases
iPTMneti | Q6DKK2 |
MetOSitei | Q6DKK2 |
PhosphoSitePlusi | Q6DKK2 |
Genetic variation databases
BioMutai | TTC19 |
DMDMi | 332278244 |
Proteomic databases
EPDi | Q6DKK2 |
jPOSTi | Q6DKK2 |
MassIVEi | Q6DKK2 |
MaxQBi | Q6DKK2 |
PaxDbi | Q6DKK2 |
PeptideAtlasi | Q6DKK2 |
PRIDEi | Q6DKK2 |
ProteomicsDBi | 66236 |
Protocols and materials databases
Antibodypediai | 13179, 76 antibodies |
Genome annotation databases
Ensembli | ENST00000261647; ENSP00000261647; ENSG00000011295 |
GeneIDi | 54902 |
KEGGi | hsa:54902 |
UCSCi | uc002gph.4, human |
Organism-specific databases
CTDi | 54902 |
DisGeNETi | 54902 |
GeneCardsi | TTC19 |
HGNCi | HGNC:26006, TTC19 |
HPAi | ENSG00000011295, Low tissue specificity |
MalaCardsi | TTC19 |
MIMi | 613814, gene 615157, phenotype |
neXtProti | NX_Q6DKK2 |
OpenTargetsi | ENSG00000011295 |
Orphaneti | 1460, Isolated complex III deficiency |
PharmGKBi | PA134922384 |
VEuPathDBi | HostDB:ENSG00000011295.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1840, Eukaryota |
GeneTreei | ENSGT00390000009194 |
HOGENOMi | CLU_057135_1_0_1 |
InParanoidi | Q6DKK2 |
OMAi | LCIQREQ |
OrthoDBi | 864714at2759 |
TreeFami | TF314010 |
Enzyme and pathway databases
PathwayCommonsi | Q6DKK2 |
Miscellaneous databases
BioGRID-ORCSi | 54902, 73 hits in 1000 CRISPR screens |
ChiTaRSi | TTC19, human |
GenomeRNAii | 54902 |
Pharosi | Q6DKK2, Tbio |
PROi | PR:Q6DKK2 |
RNActi | Q6DKK2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000011295, Expressed in epithelium of mammary gland and 236 other tissues |
ExpressionAtlasi | Q6DKK2, baseline and differential |
Genevisiblei | Q6DKK2, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 2 hits |
InterProi | View protein in InterPro IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat IPR040395, TTC19 |
PANTHERi | PTHR13143, PTHR13143, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 4 hits |
SUPFAMi | SSF48452, SSF48452, 2 hits |
PROSITEi | View protein in PROSITE PS50293, TPR_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TTC19_HUMAN | |
Accessioni | Q6DKK2Primary (citable) accession number: Q6DKK2 Secondary accession number(s): A8MZ52 Q9NXB2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 27, 2004 |
Last sequence update: | May 3, 2011 | |
Last modified: | April 7, 2021 | |
This is version 146 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families