Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q6DKK2 (TTC19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tetratricopeptide repeat protein 19, mitochondrial

Short name=TPR repeat protein 19
Gene names
Name:TTC19
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length380 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Mitochondrial protein required for formation of the mitochondrial complex III (Ref.7). May also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its interaction with CHMP4B (Ref.5). However, the involvement in cytokinesis requires additional experimental evidence. Ref.7

Subunit structure

Interacts with UQCRC1 and UQCRFS1 By similarity. Interacts with ZFYVE26 and CHMP4B. Ref.5

Subcellular location

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 (Ref.5). However, the midbody localization could not be confirmed by others (Ref.7). Ref.5 Ref.7

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the TTC19 family.

Contains 5 TPR repeats.

Sequence caution

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 7070Mitochondrion Potential
Chain71 – 380310Tetratricopeptide repeat protein 19, mitochondrial
PRO_0000106407

Regions

Repeat136 – 16934TPR 1
Repeat179 – 21234TPR 2
Repeat237 – 27034TPR 3
Repeat279 – 31234TPR 4
Repeat318 – 35134TPR 5
Compositional bias73 – 764Poly-Glu

Experimental info

Sequence conflict2821M → V in BAG51574. Ref.1
Sequence conflict3661E → K in BAB15296. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q6DKK2 [UniParc].

Last modified May 3, 2011. Version 4.
Checksum: AA082C9F6F8EE429

FASTA38042,457
        10         20         30         40         50         60 
MFRLLSWSLG RGFLRAAGRR CRGCSARLLP GLAGGPGPEV QVPPSRVAPH GRGPGLLPLL 

        70         80         90        100        110        120 
AALAWFSRPA AAEEEEQQGA DGAAAEDGAD EAEAEIIQLL KRAKLSIMKD EPEEAELILH 

       130        140        150        160        170        180 
DALRLAYQTD NKKAITYTYD LMANLAFIRG QLENAEQLFK ATMSYLLGGG MKQEDNAIIE 

       190        200        210        220        230        240 
ISLKLASIYA AQNRQEFAVA GYEFCISTLE EKIEREKELA EDIMSVEEKA NTHLLLGMCL 

       250        260        270        280        290        300 
DACARYLLFS KQPSQAQRMY EKALQISEEI QGERHPQTIV LMSDLATTLD AQGRFDEAYI 

       310        320        330        340        350        360 
YMQRASDLAR QINHPELHMV LSNLAAVLMH RERYTQAKEI YQEALKQAKL KKDEISVQHI 

       370        380 
REELAELSKK SRPLTNSVKL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11174.2.
RefSeqNP_001258349.1. NM_001271420.1.
NP_060245.3. NM_017775.3.
UniGeneHs.462316.

3D structure databases

ProteinModelPortalQ6DKK2.
SMRQ6DKK2. Positions 100-126, 210-352.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120248. 7 interactions.
IntActQ6DKK2. 7 interactions.
MINTMINT-2873964.
STRING9606.ENSP00000261647.

PTM databases

PhosphoSiteQ6DKK2.

Polymorphism databases

DMDM332278244.

Proteomic databases

MaxQBQ6DKK2.
PaxDbQ6DKK2.
PRIDEQ6DKK2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261647; ENSP00000261647; ENSG00000011295.
ENST00000486880; ENSP00000436056; ENSG00000011295.
GeneID54902.
KEGGhsa:54902.
UCSCuc002gph.3. human.

Organism-specific databases

CTD54902.
GeneCardsGC17P015902.
HGNCHGNC:26006. TTC19.
HPAHPA023010.
HPA052380.
MIM613814. gene.
615157. phenotype.
neXtProtNX_Q6DKK2.
Orphanet1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBPA134922384.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG291328.
HOVERGENHBG056672.
InParanoidQ6DKK2.
KOK18169.
OrthoDBEOG7DZ8KW.
TreeFamTF314010.

Gene expression databases

ArrayExpressQ6DKK2.
BgeeQ6DKK2.
CleanExHS_TTC19.
GenevestigatorQ6DKK2.

Family and domain databases

Gene3D1.25.40.10. 1 hit.
InterProIPR026000. Apc5/TPR19_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
[Graphical view]
PfamPF12862. Apc5. 1 hit.
[Graphical view]
PROSITEPS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTTC19. human.
GenomeRNAi54902.
NextBio57932.
PROQ6DKK2.
SOURCESearch...

Entry information

Entry nameTTC19_HUMAN
AccessionPrimary (citable) accession number: Q6DKK2
Secondary accession number(s): A8MZ52 expand/collapse secondary AC list , B3KP62, B4DN65, Q2M248, Q7L3U8, Q9H6G3, Q9NXB2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: May 3, 2011
Last modified: July 9, 2014
This is version 93 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM