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Q96DA6

- TIM14_HUMAN

UniProt

Q96DA6 - TIM14_HUMAN

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Protein
Mitochondrial import inner membrane translocase subunit TIM14
Gene
DNAJC19, TIM14, TIMM14
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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
Complete GO annotation...

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; Single-pass membrane protein Inferred 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 32Mitochondrial intermembrane Reviewed prediction
Transmembranei4 – 2421Helical; Reviewed prediction
Add
BLAST
Topological domaini25 – 11692Mitochondrial matrix Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 11Removed1 Publication
Chaini2 – 116115Mitochondrial import inner membrane translocase subunit TIM14
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini62 – 11655J
Add
BLAST

Sequence similaritiesi

Belongs to the TIM14 family.
Contains 1 J domain.

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.
VSP_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...

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

« 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] (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: September 3, 2014
This is version 106 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

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