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Q8WV60 (PTCD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pentatricopeptide repeat-containing protein 2, mitochondrial
Gene names
Name:PTCD2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length388 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function By similarity.

Subcellular location

Mitochondrion Ref.6.

Sequence similarities

Belongs to the PTCD2 family.

Contains 1 PPR (pentatricopeptide) repeat.

Caution

It is uncertain whether Met-1 or Met-6 is the initiator.

Sequence caution

The sequence AAH18720.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB14162.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence EAW95706.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WV60-1)

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: Q8WV60-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MVRDSMAAAFR → MWNWLKMSFTG
     12-183: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 388388Pentatricopeptide repeat-containing protein 2, mitochondrial
PRO_0000344050

Regions

Repeat166 – 20035PPR

Natural variations

Alternative sequence1 – 1111MVRDSMAAAFR → MWNWLKMSFTG in isoform 2.
VSP_055257
Alternative sequence12 – 183172Missing in isoform 2.
VSP_055258

Experimental info

Sequence conflict1941Q → L in BAB14162. Ref.1
Sequence conflict3881E → D in CAG33571. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 3.
Checksum: 344BD840EBB80597

FASTA38843,968
        10         20         30         40         50         60 
MVRDSMAAAF RPSNRVLLQA LQILVYPGVG GSGSVSCRCP LGAKRYLLTD NVVKLKEFQQ 

        70         80         90        100        110        120 
KKVAVACNLS GTKETYFRNL KKKLTQNKLI LKGELITLLH LCESRDHVEL AKNVIYRYHA 

       130        140        150        160        170        180 
ENKNFTLGEY KFGPLFVRLC YELDLEESAV ELMKDQHLRG FFSDSTSFNI LMDMLFIKGK 

       190        200        210        220        230        240 
YKSALQVLIE MKNQDVKFTK DTYVLAFAIC YKLNSPESFK ICTTLREEAL LKGEILSRRA 

       250        260        270        280        290        300 
SCFAVALALN QNEMAKAVSI FSQIMNPESI ACINLNIIIH IQSNMLENLI KTLKNAAEGN 

       310        320        330        340        350        360 
LSKFVKRHVF SEEVLAKVRE KVKDVPALVA KFDEIYGTLH ITGQVTTDSL DAVLCHTPRD 

       370        380 
RKSHTLLLNK RMVSRRTFQP LSQSLLAE 

« Hide

Isoform 2 [UniParc].

Checksum: 957D458B4E677A61
Show »

FASTA21624,460

References

« Hide '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. expand/collapse author list , 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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 75-388 (ISOFORM 1).
[2]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [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. expand/collapse author list , 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 (JUL-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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-388 (ISOFORM 1).
Tissue: Uterus.
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 153-388 (ISOFORM 1).
[6]"Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria."
Xu F., Ackerley C., Maj M.C., Addis J.B., Levandovskiy V., Lee J., Mackay N., Cameron J.M., Robinson B.H.
Biochem. J. 416:15-26(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK022660 mRNA. Translation: BAB14162.1. Different initiation.
AK303639 mRNA. Translation: BAH14003.1.
AC026406 Genomic DNA. No translation available.
CH471084 Genomic DNA. Translation: EAW95706.1. Sequence problems.
BC018720 mRNA. Translation: AAH18720.1. Different initiation.
CR457290 mRNA. Translation: CAG33571.1.
CCDSCCDS4014.2.
RefSeqNP_079030.3. NM_024754.4.
XP_005248660.1. XM_005248603.1.
UniGeneHs.126906.

3D structure databases

ProteinModelPortalQ8WV60.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122905. 1 interaction.
STRING9606.ENSP00000370013.

PTM databases

PhosphoSiteQ8WV60.

Polymorphism databases

DMDM215274210.

Proteomic databases

MaxQBQ8WV60.
PaxDbQ8WV60.
PRIDEQ8WV60.

Protocols and materials databases

DNASU79810.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308077; ENSP00000308948; ENSG00000049883.
ENST00000380639; ENSP00000370013; ENSG00000049883.
ENST00000536805; ENSP00000444772; ENSG00000049883.
GeneID79810.
KEGGhsa:79810.
UCSCuc003kcb.3. human.

Organism-specific databases

CTD79810.
GeneCardsGC05P071651.
HGNCHGNC:25734. PTCD2.
HPAHPA043686.
MIM615484. gene.
neXtProtNX_Q8WV60.
PharmGKBPA134909110.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41863.
HOGENOMHOG000115757.
HOVERGENHBG106362.
InParanoidQ8WV60.
KOK17711.
OMAHLCESRD.
OrthoDBEOG70ZZNZ.
PhylomeDBQ8WV60.
TreeFamTF324851.

Gene expression databases

ArrayExpressQ8WV60.
BgeeQ8WV60.
CleanExHS_PTCD2.
GenevestigatorQ8WV60.

Family and domain databases

InterProIPR002885. Pentatricopeptide_repeat.
IPR019266. Ribosomal_S27_mit.
[Graphical view]
PfamPF10037. MRP-S27. 1 hit.
[Graphical view]
TIGRFAMsTIGR00756. PPR. 1 hit.
PROSITEPS51375. PPR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79810.
NextBio69396.
PROQ8WV60.
SOURCESearch...

Entry information

Entry namePTCD2_HUMAN
AccessionPrimary (citable) accession number: Q8WV60
Secondary accession number(s): B7Z8L7, Q6IA65, Q9H9R0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 85 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM