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Protein

Pentatricopeptide repeat-containing protein 2, mitochondrial

Gene

PTCD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. kidney development Source: Ensembl
  2. liver development Source: Ensembl
  3. mitochondrion organization Source: Ensembl
  4. mRNA processing Source: UniProtKB-KW
  5. muscle fiber development Source: Ensembl
  6. regulation of mRNA processing Source: UniProtKB
  7. ventricular cardiac muscle tissue morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

mRNA processing

Names & Taxonomyi

Protein namesi
Recommended name:
Pentatricopeptide repeat-containing protein 2, mitochondrial
Gene namesi
Name:PTCD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:25734. PTCD2.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134909110.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 388388Pentatricopeptide repeat-containing protein 2, mitochondrialPRO_0000344050Add
BLAST

Proteomic databases

MaxQBiQ8WV60.
PaxDbiQ8WV60.
PRIDEiQ8WV60.

PTM databases

PhosphoSiteiQ8WV60.

Expressioni

Gene expression databases

BgeeiQ8WV60.
CleanExiHS_PTCD2.
ExpressionAtlasiQ8WV60. baseline and differential.
GenevestigatoriQ8WV60.

Organism-specific databases

HPAiHPA043686.

Interactioni

Protein-protein interaction databases

BioGridi122905. 10 interactions.
STRINGi9606.ENSP00000370013.

Structurei

3D structure databases

ProteinModelPortaliQ8WV60.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati166 – 20035PPRAdd
BLAST

Sequence similaritiesi

Belongs to the PTCD2 family.Curated
Contains 1 PPR (pentatricopeptide) repeat.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG41863.
GeneTreeiENSGT00390000009329.
HOGENOMiHOG000115757.
HOVERGENiHBG106362.
InParanoidiQ8WV60.
KOiK17711.
OMAiHLCESRD.
OrthoDBiEOG70ZZNZ.
PhylomeDBiQ8WV60.
TreeFamiTF324851.

Family and domain databases

InterProiIPR002885. Pentatricopeptide_repeat.
IPR019266. Ribosomal_S27_mit.
[Graphical view]
PfamiPF10037. MRP-S27. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00756. PPR. 1 hit.
PROSITEiPS51375. PPR. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WV60-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MVRDSMAAAF RPSNRVLLQA LQILVYPGVG GSGSVSCRCP LGAKRYLLTD
60 70 80 90 100
NVVKLKEFQQ KKVAVACNLS GTKETYFRNL KKKLTQNKLI LKGELITLLH
110 120 130 140 150
LCESRDHVEL AKNVIYRYHA ENKNFTLGEY KFGPLFVRLC YELDLEESAV
160 170 180 190 200
ELMKDQHLRG FFSDSTSFNI LMDMLFIKGK YKSALQVLIE MKNQDVKFTK
210 220 230 240 250
DTYVLAFAIC YKLNSPESFK ICTTLREEAL LKGEILSRRA SCFAVALALN
260 270 280 290 300
QNEMAKAVSI FSQIMNPESI ACINLNIIIH IQSNMLENLI KTLKNAAEGN
310 320 330 340 350
LSKFVKRHVF SEEVLAKVRE KVKDVPALVA KFDEIYGTLH ITGQVTTDSL
360 370 380
DAVLCHTPRD RKSHTLLLNK RMVSRRTFQP LSQSLLAE
Length:388
Mass (Da):43,968
Last modified:November 25, 2008 - v3
Checksum:i344BD840EBB80597
GO
Isoform 2 (identifier: Q8WV60-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MVRDSMAAAFR → MWNWLKMSFTG
     12-183: Missing.

Note: No experimental confirmation available.

Show »
Length:216
Mass (Da):24,460
Checksum:i957D458B4E677A61
GO
Isoform 3 (identifier: Q8WV60-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-183: KETYFRNLKK...MLFIKGKYKS → KG

Note: No experimental confirmation available.

Show »
Length:279
Mass (Da):30,970
Checksum:i53EF65B7D727F013
GO

Sequence cautioni

The sequence AAH18720.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14162.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAW95706.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti34 – 341S → P in BAH12866 (PubMed:14702039).Curated
Sequence conflicti194 – 1941Q → L in BAB14162 (PubMed:14702039).Curated
Sequence conflicti388 – 3881E → D in CAG33571 (Ref. 5) Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111MVRDSMAAAFR → MWNWLKMSFTG in isoform 2. 1 PublicationVSP_055257Add
BLAST
Alternative sequencei12 – 183172Missing in isoform 2. 1 PublicationVSP_055258Add
BLAST
Alternative sequencei73 – 183111KETYF…GKYKS → KG in isoform 3. 1 PublicationVSP_055680Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022660 mRNA. Translation: BAB14162.1. Different initiation.
AK298750 mRNA. Translation: BAH12866.1.
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.
CCDSiCCDS4014.2. [Q8WV60-1]
CCDS68891.1. [Q8WV60-3]
CCDS68892.1. [Q8WV60-2]
RefSeqiNP_001271332.1. NM_001284403.1. [Q8WV60-3]
NP_001271333.1. NM_001284404.1. [Q8WV60-2]
NP_079030.3. NM_024754.4. [Q8WV60-1]
XP_005248660.1. XM_005248603.1.
UniGeneiHs.126906.

Genome annotation databases

EnsembliENST00000308077; ENSP00000308948; ENSG00000049883. [Q8WV60-1]
ENST00000380639; ENSP00000370013; ENSG00000049883. [Q8WV60-1]
ENST00000503868; ENSP00000427349; ENSG00000049883. [Q8WV60-3]
ENST00000536805; ENSP00000444772; ENSG00000049883. [Q8WV60-2]
GeneIDi79810.
KEGGihsa:79810.
UCSCiuc003kcb.3. human. [Q8WV60-1]

Polymorphism databases

DMDMi215274210.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022660 mRNA. Translation: BAB14162.1. Different initiation.
AK298750 mRNA. Translation: BAH12866.1.
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.
CCDSiCCDS4014.2. [Q8WV60-1]
CCDS68891.1. [Q8WV60-3]
CCDS68892.1. [Q8WV60-2]
RefSeqiNP_001271332.1. NM_001284403.1. [Q8WV60-3]
NP_001271333.1. NM_001284404.1. [Q8WV60-2]
NP_079030.3. NM_024754.4. [Q8WV60-1]
XP_005248660.1. XM_005248603.1.
UniGeneiHs.126906.

3D structure databases

ProteinModelPortaliQ8WV60.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122905. 10 interactions.
STRINGi9606.ENSP00000370013.

PTM databases

PhosphoSiteiQ8WV60.

Polymorphism databases

DMDMi215274210.

Proteomic databases

MaxQBiQ8WV60.
PaxDbiQ8WV60.
PRIDEiQ8WV60.

Protocols and materials databases

DNASUi79810.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308077; ENSP00000308948; ENSG00000049883. [Q8WV60-1]
ENST00000380639; ENSP00000370013; ENSG00000049883. [Q8WV60-1]
ENST00000503868; ENSP00000427349; ENSG00000049883. [Q8WV60-3]
ENST00000536805; ENSP00000444772; ENSG00000049883. [Q8WV60-2]
GeneIDi79810.
KEGGihsa:79810.
UCSCiuc003kcb.3. human. [Q8WV60-1]

Organism-specific databases

CTDi79810.
GeneCardsiGC05P071651.
HGNCiHGNC:25734. PTCD2.
HPAiHPA043686.
MIMi615484. gene.
neXtProtiNX_Q8WV60.
PharmGKBiPA134909110.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG41863.
GeneTreeiENSGT00390000009329.
HOGENOMiHOG000115757.
HOVERGENiHBG106362.
InParanoidiQ8WV60.
KOiK17711.
OMAiHLCESRD.
OrthoDBiEOG70ZZNZ.
PhylomeDBiQ8WV60.
TreeFamiTF324851.

Miscellaneous databases

GenomeRNAii79810.
NextBioi35479697.
PROiQ8WV60.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WV60.
CleanExiHS_PTCD2.
ExpressionAtlasiQ8WV60. baseline and differential.
GenevestigatoriQ8WV60.

Family and domain databases

InterProiIPR002885. Pentatricopeptide_repeat.
IPR019266. Ribosomal_S27_mit.
[Graphical view]
PfamiPF10037. MRP-S27. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00756. PPR. 1 hit.
PROSITEiPS51375. PPR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORMS 2 AND 3), 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.
    , 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. 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.

Entry informationi

Entry nameiPTCD2_HUMAN
AccessioniPrimary (citable) accession number: Q8WV60
Secondary accession number(s): B7Z5D0
, B7Z8L7, E9PFV7, Q6IA65, Q9H9R0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: November 25, 2008
Last modified: March 4, 2015
This is version 91 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.