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Q96DA6

- TIM14_HUMAN

UniProt

Q96DA6 - TIM14_HUMAN

Protein

Mitochondrial import inner membrane translocase subunit TIM14

Gene

DNAJC19

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

    Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity By similarity.By similarity

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. genitalia development Source: UniProtKB
    3. protein folding Source: UniProtKB
    4. protein targeting to mitochondrion Source: UniProtKB
    5. visual perception Source: UniProtKB

    Keywords - Molecular functioni

    Chaperone

    Keywords - Biological processi

    Protein transport, Translocation, Transport

    Enzyme and pathway databases

    ReactomeiREACT_118595. Mitochondrial protein import.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitochondrial import inner membrane translocase subunit TIM14
    Alternative name(s):
    DnaJ homolog subfamily C member 19
    Gene namesi
    Name:DNAJC19
    Synonyms:TIM14, TIMM14
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:30528. DNAJC19.

    Subcellular locationi

    Mitochondrion inner membrane 1 Publication; Single-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. mitochondrial inner membrane Source: UniProtKB-SubCell
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    3-methylglutaconic aciduria 5 (MGA5) [MIM:610198]: An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cardiomyopathy

    Organism-specific databases

    MIMi610198. phenotype.
    Orphaneti66634. Dilated cardiomyopathy with ataxia.
    PharmGKBiPA142671967.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 116115Mitochondrial import inner membrane translocase subunit TIM14PRO_0000071100Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications
    Modified residuei70 – 701Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ96DA6.
    PaxDbiQ96DA6.
    PRIDEiQ96DA6.

    PTM databases

    PhosphoSiteiQ96DA6.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.

    Gene expression databases

    ArrayExpressiQ96DA6.
    BgeeiQ96DA6.
    CleanExiHS_DNAJC19.
    GenevestigatoriQ96DA6.

    Organism-specific databases

    HPAiHPA037782.

    Interactioni

    Subunit structurei

    Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19.By similarity

    Protein-protein interaction databases

    BioGridi126272. 10 interactions.
    STRINGi9606.ENSP00000372005.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96DA6.
    SMRiQ96DA6. Positions 48-111.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 32Mitochondrial intermembraneSequence Analysis
    Topological domaini25 – 11692Mitochondrial matrixSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4 – 2421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini62 – 11655JPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the TIM14 family.Curated
    Contains 1 J domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2214.
    HOGENOMiHOG000115841.
    HOVERGENiHBG057483.
    InParanoidiQ96DA6.
    KOiK09539.
    OMAiHRKLMIL.
    OrthoDBiEOG71G9XB.
    PhylomeDBiQ96DA6.
    TreeFamiTF320584.

    Family and domain databases

    Gene3Di1.10.287.110. 1 hit.
    InterProiIPR001623. DnaJ_domain.
    [Graphical view]
    PfamiPF00226. DnaJ. 1 hit.
    [Graphical view]
    SMARTiSM00271. DnaJ. 1 hit.
    [Graphical view]
    SUPFAMiSSF46565. SSF46565. 1 hit.
    PROSITEiPS50076. DNAJ_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96DA6-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MASTVVAVGL TIAAAGFAGR YVLQAMKHME PQVKQVFQSL PKSAFSGGYY    50
    RGGFEPKMTK REAALILGVS PTANKGKIRD AHRRIMLLNH PDKGGSPYIA 100
    AKINEAKDLL EGQAKK 116
    Length:116
    Mass (Da):12,499
    Last modified:January 23, 2007 - v3
    Checksum:iFEEFD5D2AE5D15F2
    GO
    Isoform 2 (identifier: Q96DA6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-25: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:91
    Mass (Da):10,079
    Checksum:i21845A478B7A9F97
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2525Missing in isoform 2. CuratedVSP_047119Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK311765 mRNA. Translation: BAG34708.1.
    AC008009 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78358.1.
    CH471052 Genomic DNA. Translation: EAW78360.1.
    CH471052 Genomic DNA. Translation: EAW78362.1.
    BC073989 mRNA. Translation: AAH73989.1.
    BC009702 mRNA. Translation: AAH09702.1.
    CCDSiCCDS33895.1. [Q96DA6-1]
    CCDS54684.1. [Q96DA6-2]
    RefSeqiNP_001177162.1. NM_001190233.1. [Q96DA6-2]
    NP_660304.1. NM_145261.3. [Q96DA6-1]
    UniGeneiHs.230601.

    Genome annotation databases

    EnsembliENST00000382564; ENSP00000372005; ENSG00000205981. [Q96DA6-1]
    ENST00000479269; ENSP00000419191; ENSG00000205981. [Q96DA6-2]
    ENST00000491873; ENSP00000420767; ENSG00000205981. [Q96DA6-2]
    GeneIDi131118.
    KEGGihsa:131118.
    UCSCiuc003fkt.3. human. [Q96DA6-1]

    Polymorphism databases

    DMDMi74760780.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK311765 mRNA. Translation: BAG34708.1 .
    AC008009 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78358.1 .
    CH471052 Genomic DNA. Translation: EAW78360.1 .
    CH471052 Genomic DNA. Translation: EAW78362.1 .
    BC073989 mRNA. Translation: AAH73989.1 .
    BC009702 mRNA. Translation: AAH09702.1 .
    CCDSi CCDS33895.1. [Q96DA6-1 ]
    CCDS54684.1. [Q96DA6-2 ]
    RefSeqi NP_001177162.1. NM_001190233.1. [Q96DA6-2 ]
    NP_660304.1. NM_145261.3. [Q96DA6-1 ]
    UniGenei Hs.230601.

    3D structure databases

    ProteinModelPortali Q96DA6.
    SMRi Q96DA6. Positions 48-111.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126272. 10 interactions.
    STRINGi 9606.ENSP00000372005.

    PTM databases

    PhosphoSitei Q96DA6.

    Polymorphism databases

    DMDMi 74760780.

    Proteomic databases

    MaxQBi Q96DA6.
    PaxDbi Q96DA6.
    PRIDEi Q96DA6.

    Protocols and materials databases

    DNASUi 131118.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382564 ; ENSP00000372005 ; ENSG00000205981 . [Q96DA6-1 ]
    ENST00000479269 ; ENSP00000419191 ; ENSG00000205981 . [Q96DA6-2 ]
    ENST00000491873 ; ENSP00000420767 ; ENSG00000205981 . [Q96DA6-2 ]
    GeneIDi 131118.
    KEGGi hsa:131118.
    UCSCi uc003fkt.3. human. [Q96DA6-1 ]

    Organism-specific databases

    CTDi 131118.
    GeneCardsi GC03M180701.
    HGNCi HGNC:30528. DNAJC19.
    HPAi HPA037782.
    MIMi 608977. gene.
    610198. phenotype.
    neXtProti NX_Q96DA6.
    Orphaneti 66634. Dilated cardiomyopathy with ataxia.
    PharmGKBi PA142671967.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2214.
    HOGENOMi HOG000115841.
    HOVERGENi HBG057483.
    InParanoidi Q96DA6.
    KOi K09539.
    OMAi HRKLMIL.
    OrthoDBi EOG71G9XB.
    PhylomeDBi Q96DA6.
    TreeFami TF320584.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.

    Miscellaneous databases

    GeneWikii DNAJC19.
    GenomeRNAii 131118.
    NextBioi 82874.
    PROi Q96DA6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96DA6.
    Bgeei Q96DA6.
    CleanExi HS_DNAJC19.
    Genevestigatori Q96DA6.

    Family and domain databases

    Gene3Di 1.10.287.110. 1 hit.
    InterProi IPR001623. DnaJ_domain.
    [Graphical view ]
    Pfami PF00226. DnaJ. 1 hit.
    [Graphical view ]
    SMARTi SM00271. DnaJ. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46565. SSF46565. 1 hit.
    PROSITEi PS50076. DNAJ_2. 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] (ISOFORM 1).
      Tissue: Thalamus.
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(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] (ISOFORM 1).
      Tissue: Colon and Lung.
    5. Bienvenut W.V.
      Submitted (JUN-2005) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-20 AND 62-75, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: B-cell lymphoma.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
    7. "Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition."
      Davey K.M., Parboosingh J.S., McLeod D.R., Chan A., Casey R., Ferreira P., Snyder F.F., Bridge P.J., Bernier F.P.
      J. Med. Genet. 43:385-393(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MGA5.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-70, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiTIM14_HUMAN
    AccessioniPrimary (citable) accession number: Q96DA6
    Secondary accession number(s): B2R4B1, C9JBV1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2005
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 107 of the entry and version 3 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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