ID   TIM14_HUMAN             Reviewed;         116 AA.
AC   Q96DA6; B2R4B1;
DT   06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2007, sequence version 3.
DT   25-JAN-2012, entry version 83.
DE   RecName: Full=Mitochondrial import inner membrane translocase subunit TIM14;
DE   AltName: Full=DnaJ homolog subfamily C member 19;
GN   Name=DNAJC19; Synonyms=TIM14, TIMM14;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Thalamus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Colon, and Lung;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   PROTEIN SEQUENCE OF 2-20 AND 62-75, CLEAVAGE OF INITIATOR METHIONINE,
RP   ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
RC   TISSUE=B-cell lymphoma;
RA   Bienvenut W.V.;
RL   Submitted (JUN-2005) to UniProtKB.
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
RX   PubMed=12592411; DOI=10.1038/nbt793;
RA   Taylor S.W., Fahy E., Zhang B., Glenn G.M., Warnock D.E., Wiley S.,
RA   Murphy A.N., Gaucher S.P., Capaldi R.A., Gibson B.W., Ghosh S.S.;
RT   "Characterization of the human heart mitochondrial proteome.";
RL   Nat. Biotechnol. 21:281-286(2003).
RN   [6]
RP   INVOLVEMENT IN MGA5.
RX   PubMed=16055927; DOI=10.1136/jmg.2005.036657;
RA   Davey K.M., Parboosingh J.S., McLeod D.R., Chan A., Casey R.,
RA   Ferreira P., Snyder F.F., Bridge P.J., Bernier F.P.;
RT   "Mutation of DNAJC19, a human homologue of yeast inner mitochondrial
RT   membrane co-chaperones, causes DCMA syndrome, a novel autosomal
RT   recessive Barth syndrome-like condition.";
RL   J. Med. Genet. 43:385-393(2006).
RN   [7]
RP   ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, AND MASS SPECTROMETRY.
RC   TISSUE=Embryonic kidney;
RX   PubMed=19413330; DOI=10.1021/ac9004309;
RA   Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA   Mohammed S.;
RT   "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT   a refined SCX-based approach.";
RL   Anal. Chem. 81:4493-4501(2009).
RN   [8]
RP   ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-93, AND MASS SPECTROMETRY.
RX   PubMed=19608861; DOI=10.1126/science.1175371;
RA   Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.,
RA   Olsen J.V., Mann M.;
RT   "Lysine acetylation targets protein complexes and co-regulates major
RT   cellular functions.";
RL   Science 325:834-840(2009).
RN   [9]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA   Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
CC   -!- FUNCTION: Probable component of the PAM complex, a complex
CC       required for the translocation of transit peptide-containing
CC       proteins from the inner membrane into the mitochondrial matrix in
CC       an ATP-dependent manner. May act as a co-chaperone that stimulate
CC       the ATP-dependent activity (By similarity).
CC   -!- SUBUNIT: Probable component of the PAM complex at least composed
CC       of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44,
CC       TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity).
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass
CC       membrane protein (Probable).
CC   -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC   -!- DISEASE: Defects in DNAJC19 are the cause of 3-methylglutaconic
CC       aciduria type 5 (MGA5) [MIM:610198]; also known as dilated
CC       cardiomyopathy with ataxia (DCMA). MGA5 is an autosomal recessive
CC       disorder characterized by early-onset dilated cardiomyopathy,
CC       growth failure, cerebellar ataxia causing significant motor
CC       delays, testicular dysgenesis, growth failure, and significant
CC       increases in urine organic acids, particularly 3-methylglutaconic
CC       acid and 3-methylglutaric acid.
CC   -!- SIMILARITY: Belongs to the TIM14 family.
CC   -!- SIMILARITY: Contains 1 J domain.
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DR   EMBL; AK311765; BAG34708.1; -; mRNA.
DR   EMBL; CH471052; EAW78362.1; -; Genomic_DNA.
DR   EMBL; BC073989; AAH73989.1; -; mRNA.
DR   EMBL; BC009702; AAH09702.1; -; mRNA.
DR   IPI; IPI00304306; -.
DR   RefSeq; NP_001177162.1; NM_001190233.1.
DR   RefSeq; NP_660304.1; NM_145261.3.
DR   UniGene; Hs.230601; -.
DR   ProteinModelPortal; Q96DA6; -.
DR   SMR; Q96DA6; 48-116.
DR   STRING; Q96DA6; -.
DR   PhosphoSite; Q96DA6; -.
DR   DMDM; 74760780; -.
DR   PRIDE; Q96DA6; -.
DR   Ensembl; ENST00000382564; ENSP00000372005; ENSG00000205981.
DR   GeneID; 131118; -.
DR   KEGG; hsa:131118; -.
DR   UCSC; uc003fkt.1; human.
DR   CTD; 131118; -.
DR   GeneCards; GC03M180701; -.
DR   H-InvDB; HIX0003889; -.
DR   HGNC; HGNC:30528; DNAJC19.
DR   HPA; HPA037782; -.
DR   MIM; 608977; gene.
DR   MIM; 610198; phenotype.
DR   neXtProt; NX_Q96DA6; -.
DR   Orphanet; 66634; Dilated cardiomyopathy with ataxia.
DR   eggNOG; prNOG20001; -.
DR   GeneTree; ENSGT00390000017303; -.
DR   HOGENOM; HBG526913; -.
DR   HOVERGEN; HBG057483; -.
DR   InParanoid; Q96DA6; -.
DR   OMA; DPKMNKR; -.
DR   OrthoDB; EOG43XV50; -.
DR   PhylomeDB; Q96DA6; -.
DR   NextBio; 82874; -.
DR   ArrayExpress; Q96DA6; -.
DR   Bgee; Q96DA6; -.
DR   CleanEx; HS_DNAJC19; -.
DR   Genevestigator; Q96DA6; -.
DR   GermOnline; ENSG00000205981; Homo sapiens.
DR   GO; GO:0016021; C:integral to membrane; NAS:UniProtKB.
DR   GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0031072; F:heat shock protein binding; IEA:InterPro.
DR   GO; GO:0048806; P:genitalia development; IMP:UniProtKB.
DR   GO; GO:0006457; P:protein folding; NAS:UniProtKB.
DR   GO; GO:0006626; P:protein targeting to mitochondrion; NAS:UniProtKB.
DR   GO; GO:0007601; P:visual perception; IMP:UniProtKB.
DR   InterPro; IPR001623; DnaJ_N.
DR   Gene3D; G3DSA:1.10.287.110; DnaJ_N; 1.
DR   KO; K09539; -.
DR   Pfam; PF00226; DnaJ; 1.
DR   SMART; SM00271; DnaJ; 1.
DR   SUPFAM; SSF46565; DnaJ_N; 1.
DR   PROSITE; PS00636; DNAJ_1; FALSE_NEG.
DR   PROSITE; PS50076; DNAJ_2; 1.
PE   1: Evidence at protein level;
KW   Acetylation; Cardiomyopathy; Chaperone; Complete proteome;
KW   Direct protein sequencing; Membrane; Mitochondrion;
KW   Mitochondrion inner membrane; Protein transport; Reference proteome;
KW   Translocation; Transmembrane; Transmembrane helix; Transport.
FT   INIT_MET      1      1       Removed.
FT   CHAIN         2    116       Mitochondrial import inner membrane
FT                                translocase subunit TIM14.
FT                                /FTId=PRO_0000071100.
FT   TOPO_DOM      2      3       Mitochondrial intermembrane (Potential).
FT   TRANSMEM      4     24       Helical; (Potential).
FT   TOPO_DOM     25    116       Mitochondrial matrix (Potential).
FT   DOMAIN       62    116       J.
FT   MOD_RES       2      2       N-acetylalanine.
FT   MOD_RES      93     93       N6-acetyllysine.
SQ   SEQUENCE   116 AA;  12499 MW;  FEEFD5D2AE5D15F2 CRC64;
     MASTVVAVGL TIAAAGFAGR YVLQAMKHME PQVKQVFQSL PKSAFSGGYY RGGFEPKMTK
     REAALILGVS PTANKGKIRD AHRRIMLLNH PDKGGSPYIA AKINEAKDLL EGQAKK
//