Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q6DKK2

- TTC19_HUMAN

UniProt

Q6DKK2 - TTC19_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 4 (03 May 2011)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

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

    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

    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

    ArrayExpressiQ6DKK2.
    BgeeiQ6DKK2.
    CleanExiHS_TTC19.
    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. 7 interactions.
    IntActiQ6DKK2. 7 interactions.
    MINTiMINT-2873964.
    STRINGi9606.ENSP00000261647.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6DKK2.
    SMRiQ6DKK2. Positions 100-126, 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.
    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.
    [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

    MFRLLSWSLG RGFLRAAGRR CRGCSARLLP GLAGGPGPEV QVPPSRVAPH    50
    GRGPGLLPLL AALAWFSRPA AAEEEEQQGA DGAAAEDGAD EAEAEIIQLL 100
    KRAKLSIMKD EPEEAELILH DALRLAYQTD NKKAITYTYD LMANLAFIRG 150
    QLENAEQLFK ATMSYLLGGG MKQEDNAIIE ISLKLASIYA AQNRQEFAVA 200
    GYEFCISTLE EKIEREKELA EDIMSVEEKA NTHLLLGMCL DACARYLLFS 250
    KQPSQAQRMY EKALQISEEI QGERHPQTIV LMSDLATTLD AQGRFDEAYI 300
    YMQRASDLAR QINHPELHMV LSNLAAVLMH RERYTQAKEI YQEALKQAKL 350
    KKDEISVQHI REELAELSKK SRPLTNSVKL 380
    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 100-126, 210-352.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120248. 7 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.
    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

    ArrayExpressi Q6DKK2.
    Bgeei Q6DKK2.
    CleanExi HS_TTC19.
    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.
    [Graphical view ]
    Pfami PF12862. Apc5. 1 hit.
    [Graphical view ]
    PROSITEi PS50293. TPR_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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 1, 2014
    This is version 94 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