Q96DA6 (TIM14_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial import inner membrane translocase subunit TIM14

Alternative name(s):
DnaJ homolog subfamily C member 19

Gene names

Name:	DNAJC19
Synonyms:	TIM14, TIMM14

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	116 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	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.
Subcellular location	Mitochondrion inner membrane; Single-pass membrane protein Probable Ref.5.
Tissue specificity	Ubiquitously expressed.
Involvement in disease	Defects in DNAJC19 are the cause of 3-methylglutaconic aciduria type 5 (MGA5) [MIM:610198]; also known as dilated cardiomyopathy with ataxia (DCMA). MGA5 is 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. Ref.6
Sequence similarities	Belongs to the TIM14 family. Contains 1 J domain.

Ontologies

Keywords
Biological process	Protein transport Translocation Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Disease	Cardiomyopathy
Domain	Transmembrane Transmembrane helix
Molecular function	Chaperone
PTM	Acetylation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	genitalia development Inferred from mutant phenotype Ref.6. Source: UniProtKB protein folding Non-traceable author statement Ref.6. Source: UniProtKB protein targeting to mitochondrion Non-traceable author statement Ref.6. Source: UniProtKB visual perception Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular component	integral to membrane Non-traceable author statement Ref.6. Source: UniProtKB mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	heat shock protein binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.4
	Chain	2 – 116	115	Mitochondrial import inner membrane translocase subunit TIM14		PRO_0000071100
Regions
	Topological domain	2 – 3	2	Mitochondrial intermembrane Potential
	Transmembrane	4 – 24	21	Helical; Potential
	Topological domain	25 – 116	92	Mitochondrial matrix Potential
	Domain	62 – 116	55	J
Amino acid modifications
	Modified residue	2	1	N-acetylalanine Ref.4 Ref.7
	Modified residue	93	1	N6-acetyllysine Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Q96DA6 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: FEEFD5D2AE5D15F2	FASTA	116	12,499
	10 20 30 40 50 60 MASTVVAVGL TIAAAGFAGR YVLQAMKHME PQVKQVFQSL PKSAFSGGYY RGGFEPKMTK 70 80 90 100 110 REAALILGVS PTANKGKIRD AHRRIMLLNH PDKGGSPYIA AKINEAKDLL EGQAKK

References

	« Hide 'large scale' referencesShow '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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Thalamus.
[2]	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. , 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon and Lung.
[4]	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, MASS SPECTROMETRY. Tissue: B-cell lymphoma.
[5]	"Characterization of the human heart mitochondrial proteome." Taylor S.W., Fahy E., Zhang B., Glenn G.M., Warnock D.E., Wiley S., Murphy A.N., Gaucher S.P., Capaldi R.A., Gibson B.W., Ghosh S.S. Nat. Biotechnol. 21:281-286(2003) [PubMed: 12592411] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
[6]	"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: 16055927] [Abstract] Cited for: INVOLVEMENT IN MGA5.
[7]	"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: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[8]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-93, MASS SPECTROMETRY.
[9]	"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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK311765 mRNA. Translation: BAG34708.1. CH471052 Genomic DNA. Translation: EAW78362.1. BC073989 mRNA. Translation: AAH73989.1. BC009702 mRNA. Translation: AAH09702.1.
IPI	IPI00304306.
RefSeq	NP_001177162.1. NM_001190233.1. NP_660304.1. NM_145261.3.
UniGene	Hs.230601.
3D structure databases
ProteinModelPortal	Q96DA6.
SMR	Q96DA6. Positions 48-116.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96DA6.
PTM databases
PhosphoSite	Q96DA6.
Polymorphism databases
DMDM	74760780.
Proteomic databases
PRIDE	Q96DA6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382564; ENSP00000372005; ENSG00000205981.
GeneID	131118.
KEGG	hsa:131118.
UCSC	uc003fkt.1. human.
Organism-specific databases
CTD	131118.
GeneCards	GC03M180701.
H-InvDB	HIX0003889.
HGNC	HGNC:30528. DNAJC19.
HPA	HPA037782.
MIM	608977. gene. 610198. phenotype.
neXtProt	NX_Q96DA6.
Orphanet	66634. Dilated cardiomyopathy with ataxia.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20001.
GeneTree	ENSGT00390000017303.
HOGENOM	HBG526913.
HOVERGEN	HBG057483.
InParanoid	Q96DA6.
OMA	DPKMNKR.
OrthoDB	EOG43XV50.
PhylomeDB	Q96DA6.
Gene expression databases
ArrayExpress	Q96DA6.
Bgee	Q96DA6.
CleanEx	HS_DNAJC19.
Genevestigator	Q96DA6.
GermOnline	ENSG00000205981. Homo sapiens.
Family and domain databases
InterPro	IPR001623. DnaJ_N. [Graphical view]
Gene3D	G3DSA:1.10.287.110. DnaJ_N. 1 hit.
KO	K09539.
Pfam	PF00226. DnaJ. 1 hit. [Graphical view]
SMART	SM00271. DnaJ. 1 hit. [Graphical view]
SUPFAM	SSF46565. DnaJ_N. 1 hit.
PROSITE	PS00636. DNAJ_1. False negative. PS50076. DNAJ_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	82874.
SOURCE	Search...

Entry information

Entry name

TIM14_HUMAN

Accession

Primary (citable) accession number: Q96DA6
Secondary accession number(s): B2R4B1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 6, 2005
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 83 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.