Q96EY7 (PTCD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pentatricopeptide repeat-containing protein 3, mitochondrial

Alternative name(s):
Transformation-related gene 15 protein
Short name=TRG-15

Gene names

Name:	PTCD3
ORF Names:	TRG15

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	689 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)

Subcellular location	Mitochondrion Potential.
Sequence similarities	Belongs to the PTCD3 family. Contains 10 PPR (pentatricopeptide) repeats.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transit peptide
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96EY7-1)

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.

Isoform 2 (identifier: Q96EY7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-409: Missing.
     410-413: PDDD → MMAY

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 37	37	Mitochondrion Potential
	Chain	38 – 689	652	Pentatricopeptide repeat-containing protein 3, mitochondrial		PRO_0000305028
Regions
	Repeat	149 – 183	35	PPR 1
	Repeat	184 – 219	36	PPR 2
	Repeat	255 – 289	35	PPR 3
	Repeat	290 – 330	41	PPR 4
	Repeat	331 – 367	37	PPR 5
	Repeat	368 – 409	42	PPR 6
	Repeat	412 – 446	35	PPR 7
	Repeat	454 – 488	35	PPR 8
	Repeat	489 – 523	35	PPR 9
	Repeat	572 – 606	35	PPR 10
Amino acid modifications
	Modified residue	126	1	N6-acetyllysine Ref.7
Natural variations
	Alternative sequence	1 – 409	409	Missing in isoform 2.		VSP_028191
	Alternative sequence	410 – 413	4	PDDD → MMAY in isoform 2.		VSP_028192
	Natural variant	2	1	A → V. Corresponds to variant rs13393659 [ dbSNP | Ensembl ].		VAR_035154
	Natural variant	681	1	S → G. Corresponds to variant rs2241433 [ dbSNP | Ensembl ].		VAR_035155
Experimental info
	Sequence conflict	400	1	L → S in AAQ18037. Ref.6
	Sequence conflict	488	1	P → L in AAH01758. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 23, 2004. Version 3. Checksum: 901DBE1FF3A2E0B9	FASTA	689	78,550
	10 20 30 40 50 60 MAVVSAVRWL GLRSRLGQPL TGRRAGLCEQ ARSCRFYSGS ATLSKVEGTD VTGIEEVVIP 70 80 90 100 110 120 KKKTWDKVAV LQALASTVNR DTTAVPYVFQ DDPYLMPASS LESRSFLLAK KSGENVAKFI 130 140 150 160 170 180 INSYPKYFQK DIAEPHIPCL MPEYFEPQIK DISEAALKER IELRKVKASV DMFDQLLQAG 190 200 210 220 230 240 TTVSLETTNS LLDLLCYYGD QEPSTDYHFQ QTGQSEALEE ENDETSRRKA GHQFGVTWRA 250 260 270 280 290 300 KNNAERIFSL MPEKNEHSYC TMIRGMVKHR AYEQALNLYT ELLNNRLHAD VYTFNALIEA 310 320 330 340 350 360 TVCAINEKFE EKWSKILELL RHMVAQKVKP NLQTFNTILK CLRRFHVFAR SPALQVLREM 370 380 390 400 410 420 KAIGIEPSLA TYHHIIRLFD QPGDPLKRSS FIIYDIMNEL MGKRFSPKDP DDDKFFQSAM 430 440 450 460 470 480 SICSSLRDLE LAYQVHGLLK TGDNWKFIGP DQHRNFYYSK FFDLICLMEQ IDVTLKWYED 490 500 510 520 530 540 LIPSAYFPHS QTMIHLLQAL DVANRLEVIP KIWKDSKEYG HTFRSDLREE ILMLMARDKH 550 560 570 580 590 600 PPELQVAFAD CAADIKSAYE SQPIRQTAQD WPATSLNCIA ILFLRAGRTQ EAWKMLGLFR 610 620 630 640 650 660 KHNKIPRSEL LNELMDSAKV SNSPSQAIEV VELASAFSLP ICEGLTQRVM SDFAINQEQK 670 680 EALSNLTALT SDSDTDSSSD SDSDTSEGK
	Isoform 2 [UniParc]. Checksum: 013682E2D4C7330A	FASTA	280	31,863
	10 20 30 40 50 60 MMAYKFFQSA MSICSSLRDL ELAYQVHGLL KTGDNWKFIG PDQHRNFYYS KFFDLICLME 70 80 90 100 110 120 QIDVTLKWYE DLIPSAYFPH SQTMIHLLQA LDVANRLEVI PKIWKDSKEY GHTFRSDLRE 130 140 150 160 170 180 EILMLMARDK HPPELQVAFA DCAADIKSAY ESQPIRQTAQ DWPATSLNCI AILFLRAGRT 190 200 210 220 230 240 QEAWKMLGLF RKHNKIPRSE LLNELMDSAK VSNSPSQAIE VVELASAFSL PICEGLTQRV 250 260 270 280 MSDFAINQEQ KEALSNLTAL TSDSDTDSSS DSDSDTSEGK

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] (ISOFORM 2).
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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].
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Eye and Lung.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 311-689. Tissue: Stomach.
[6]	"Identification of a human transforming gene." Kim J.W. Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 323-689.
[7]	"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-126, MASS SPECTROMETRY.
[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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK000765 mRNA. Translation: BAA91370.1. CH471053 Genomic DNA. Translation: EAW99464.1. CH471053 Genomic DNA. Translation: EAW99465.1. BC001758 mRNA. Translation: AAH01758.3. BC011832 mRNA. Translation: AAH11832.3. AL832520 mRNA. Translation: CAH56345.1. AY277598 mRNA. Translation: AAQ18037.1.
IPI	IPI00783302. IPI00867557.
RefSeq	NP_060422.4. NM_017952.5.
UniGene	Hs.323489. Hs.623885.
3D structure databases
ProteinModelPortal	Q96EY7.
SMR	Q96EY7. Positions 574-601.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96EY7. 7 interactions.
MINT	MINT-1383816.
STRING	Q96EY7.
PTM databases
PhosphoSite	Q96EY7.
Polymorphism databases
DMDM	74731633.
Proteomic databases
PRIDE	Q96EY7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000254630; ENSP00000254630; ENSG00000132300.
GeneID	55037.
KEGG	hsa:55037.
UCSC	uc002sqw.1. human. uc002sqx.1. human.
Organism-specific databases
CTD	55037.
GeneCards	GC02P086333.
H-InvDB	HIX0002234.
HGNC	HGNC:24717. PTCD3.
HPA	HPA041154. HPA041382.
neXtProt	NX_Q96EY7.
PharmGKB	PA147357465.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13813.
GeneTree	ENSGT00390000016876.
HOGENOM	HBG717779.
HOVERGEN	HBG068809.
InParanoid	Q96EY7.
OMA	HIPCLMP.
OrthoDB	EOG4TF0JR.
PhylomeDB	Q96EY7.
Gene expression databases
ArrayExpress	Q96EY7.
Bgee	Q96EY7.
CleanEx	HS_PTCD3.
Genevestigator	Q96EY7.
Family and domain databases
InterPro	IPR002885. Pentatricopeptide_repeat. [Graphical view]
PROSITE	PS51375. PPR. 4 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	58481.

Entry information

Entry name

PTCD3_HUMAN

Accession

Primary (citable) accession number: Q96EY7
Secondary accession number(s): A6NHD2 , D6W5M1, Q597H0, Q658Y9, Q9BUZ8, Q9NWL0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	November 23, 2004
Last modified:	January 25, 2012
This is version 78 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.