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Q6DKK2

- TTC19_HUMAN

UniProt

Q6DKK2 - TTC19_HUMAN

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Protein

Tetratricopeptide repeat protein 19, mitochondrial

Gene

TTC19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Mitochondrial protein required for formation of the mitochondrial complex III (PubMed:21278747). May also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its interaction with CHMP4B (PubMed:20208530). However, the involvement in cytokinesis requires additional experimental evidence.2 Publications

GO - Biological processi

  1. cytokinesis Source: UniProtKB
  2. mitochondrial respiratory chain complex III assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:26006. TTC19.

Subcellular locationi

Mitochondrion inner membrane. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Midbody
Note: According to some 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 - Cellular componenti

  1. centrosome Source: UniProtKB
  2. midbody Source: UniProtKB
  3. mitochondrial inner membrane Source: UniProtKB
  4. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 2 (MC3DN2) [MIM:615157]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi615157. phenotype.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA134922384.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 7070MitochondrionSequence AnalysisAdd
BLAST
Chaini71 – 380310Tetratricopeptide repeat protein 19, mitochondrialPRO_0000106407Add
BLAST

Proteomic databases

MaxQBiQ6DKK2.
PaxDbiQ6DKK2.
PRIDEiQ6DKK2.

PTM databases

PhosphoSiteiQ6DKK2.

Expressioni

Gene expression databases

BgeeiQ6DKK2.
CleanExiHS_TTC19.
ExpressionAtlasiQ6DKK2. baseline and differential.
GenevestigatoriQ6DKK2.

Organism-specific databases

HPAiHPA023010.
HPA052380.

Interactioni

Subunit structurei

Interacts with UQCRC1 and UQCRFS1 By similarity. Interacts with ZFYVE26 and CHMP4B.By similarity1 Publication

Protein-protein interaction databases

BioGridi120248. 18 interactions.
IntActiQ6DKK2. 7 interactions.
MINTiMINT-2873964.
STRINGi9606.ENSP00000261647.

Structurei

3D structure databases

ProteinModelPortaliQ6DKK2.
SMRiQ6DKK2. Positions 97-125, 210-352.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati136 – 16934TPR 1Add
BLAST
Repeati179 – 21234TPR 2Add
BLAST
Repeati237 – 27034TPR 3Add
BLAST
Repeati279 – 31234TPR 4Add
BLAST
Repeati318 – 35134TPR 5Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi73 – 764Poly-Glu

Sequence similaritiesi

Belongs to the TTC19 family.Curated
Contains 5 TPR repeats.Curated

Keywords - Domaini

Repeat, TPR repeat, Transit peptide

Phylogenomic databases

eggNOGiNOG291328.
GeneTreeiENSGT00390000009194.
HOVERGENiHBG056672.
InParanoidiQ6DKK2.
KOiK18169.
OrthoDBiEOG7DZ8KW.
TreeFamiTF314010.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR026000. Apc5/TPR19_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PfamiPF12862. Apc5. 1 hit.
[Graphical view]
PROSITEiPS50293. TPR_REGION. 1 hit.
[Graphical view]

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 AAH11698.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAH73796.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAI05129.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAI12108.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence BAA91103.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAB15296.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAG51574.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAG51820.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti282 – 2821M → V in BAG51574. (PubMed:14702039)Curated
Sequence conflicti366 – 3661E → K in BAB15296. (PubMed:14702039)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi332278244.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.462316.

3D structure databases

ProteinModelPortali Q6DKK2.
SMRi Q6DKK2. Positions 97-125, 210-352.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120248. 18 interactions.
IntActi Q6DKK2. 7 interactions.
MINTi MINT-2873964.
STRINGi 9606.ENSP00000261647.

PTM databases

PhosphoSitei Q6DKK2.

Polymorphism databases

DMDMi 332278244.

Proteomic databases

MaxQBi Q6DKK2.
PaxDbi Q6DKK2.
PRIDEi Q6DKK2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261647 ; ENSP00000261647 ; ENSG00000011295 .
GeneIDi 54902.
KEGGi hsa:54902.
UCSCi uc002gph.3. human.

Organism-specific databases

CTDi 54902.
GeneCardsi GC17P015902.
HGNCi HGNC:26006. TTC19.
HPAi HPA023010.
HPA052380.
MIMi 613814. gene.
615157. phenotype.
neXtProti NX_Q6DKK2.
Orphaneti 1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBi PA134922384.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG291328.
GeneTreei ENSGT00390000009194.
HOVERGENi HBG056672.
InParanoidi Q6DKK2.
KOi K18169.
OrthoDBi EOG7DZ8KW.
TreeFami TF314010.

Miscellaneous databases

ChiTaRSi TTC19. human.
GenomeRNAii 54902.
NextBioi 57932.
PROi Q6DKK2.
SOURCEi Search...

Gene expression databases

Bgeei Q6DKK2.
CleanExi HS_TTC19.
ExpressionAtlasi Q6DKK2. baseline and differential.
Genevestigatori Q6DKK2.

Family and domain databases

Gene3Di 1.25.40.10. 1 hit.
InterProi IPR026000. Apc5/TPR19_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
[Graphical view ]
Pfami PF12862. Apc5. 1 hit.
[Graphical view ]
PROSITEi PS50293. TPR_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Chondrocyte and Kidney.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Muscle.
  5. "PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody."
    Sagona A.P., Nezis I.P., Pedersen N.M., Liestol K., Poulton J., Rusten T.E., Skotheim R.I., Raiborg C., Stenmark H.
    Nat. Cell Biol. 12:362-371(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ZFYVE26 AND CHMP4B, SUBCELLULAR LOCATION.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies."
    Ghezzi D., Arzuffi P., Zordan M., Da Re C., Lamperti C., Benna C., D'Adamo P., Diodato D., Costa R., Mariotti C., Uziel G., Smiderle C., Zeviani M.
    Nat. Genet. 43:259-263(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MC3DN2, SUBCELLULAR LOCATION, FUNCTION.

Entry informationi

Entry nameiTTC19_HUMAN
AccessioniPrimary (citable) accession number: Q6DKK2
Secondary accession number(s): A8MZ52
, B3KP62, B4DN65, Q2M248, Q7L3U8, Q9H6G3, Q9NXB2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: May 3, 2011
Last modified: October 29, 2014
This is version 95 of the entry and version 4 of the sequence. [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

External Data

Dasty 3