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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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	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 failureand 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. 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 Phosphoprotein
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 mitochondrion Inferred from direct assay Ref.5. Source: UniProtKB
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
	Modified residue	70	1	Phosphoserine Ref.7

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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MGA5.
[7]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"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] [Europe PMC] [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.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000372005.
PTM databases
PhosphoSite	Q96DA6.
Polymorphism databases
DMDM	74760780.
Proteomic databases
PaxDb	Q96DA6.
PRIDE	Q96DA6.
Protocols and materials databases
DNASU	131118.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382564; ENSP00000372005; ENSG00000205981.
GeneID	131118.
KEGG	hsa:131118.
UCSC	uc003fkt.3. human.
Organism-specific databases
CTD	131118.
GeneCards	GC03M180701.
HGNC	HGNC:30528. DNAJC19.
HPA	HPA037782.
MIM	608977. gene. 610198. phenotype.
neXtProt	NX_Q96DA6.
Orphanet	66634. Dilated cardiomyopathy with ataxia.
PharmGKB	PA142671967.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2214.
HOGENOM	HOG000115841.
HOVERGEN	HBG057483.
InParanoid	Q96DA6.
KO	K09539.
OMA	NKIREAH.
OrthoDB	EOG43XV50.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q96DA6.
Bgee	Q96DA6.
CleanEx	HS_DNAJC19.
Genevestigator	Q96DA6.
GermOnline	ENSG00000205981. Homo sapiens.
Family and domain databases
Gene3D	1.10.287.110. 1 hit.
InterPro	IPR001623. DnaJ_domain. [Graphical view]
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
GenomeRNAi	131118.
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:	May 1, 2013
This is version 95 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.