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Protein

Pentatricopeptide repeat-containing protein 1, mitochondrial

Gene

PTCD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs.1 Publication

GO - Molecular functioni

  • RNA binding Source: UniProtKB
  • tRNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processtRNA processing

Names & Taxonomyi

Protein namesi
Recommended name:
Pentatricopeptide repeat-containing protein 1, mitochondrial
Gene namesi
Name:PTCD1
Synonyms:KIAA0632
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106246.17
HGNCiHGNC:22198 PTCD1
MIMi614774 gene
neXtProtiNX_O75127

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000106246
PharmGKBiPA134877986

Polymorphism and mutation databases

BioMutaiPTCD1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000970891 – 700Pentatricopeptide repeat-containing protein 1, mitochondrialAdd BLAST700

Proteomic databases

EPDiO75127
MaxQBiO75127
PaxDbiO75127
PeptideAtlasiO75127
PRIDEiO75127
ProteomicsDBi49780

PTM databases

iPTMnetiO75127
PhosphoSitePlusiO75127

Expressioni

Tissue specificityi

Abundant in testes, skeletal muscle and heart.1 Publication

Gene expression databases

BgeeiENSG00000106246 Expressed in 226 organ(s), highest expression level in amniotic fluid
CleanExiHS_PTCD1
ExpressionAtlasiO75127 baseline and differential
GenevisibleiO75127 HS

Organism-specific databases

HPAiHPA020106
HPA047679

Interactioni

Subunit structurei

Associates with mitochondrial leucine tRNAs. Interacts with ELAC2.2 Publications

Protein-protein interaction databases

BioGridi117493, 43 interactors
DIPiDIP-56845N
IntActiO75127, 22 interactors
MINTiO75127
STRINGi9606.ENSP00000450995

Structurei

3D structure databases

ProteinModelPortaliO75127
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati135 – 171PPR 1Add BLAST37
Repeati172 – 206PPR 2Add BLAST35
Repeati207 – 245PPR 3Add BLAST39
Repeati246 – 280PPR 4Add BLAST35
Repeati281 – 317PPR 5Add BLAST37
Repeati318 – 354PPR 6Add BLAST37
Repeati519 – 553PPR 7Add BLAST35
Repeati554 – 585PPR 8Add BLAST32
Repeati586 – 620PPR 9Add BLAST35

Sequence similaritiesi

Belongs to the PTCD1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4092 Eukaryota
KOG4197 Eukaryota
ENOG410Z7Z7 LUCA
GeneTreeiENSGT00390000015597
HOGENOMiHOG000237315
HOVERGENiHBG053748
InParanoidiO75127
KOiK17710
OrthoDBiEOG091G02E4
PhylomeDBiO75127

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR002885 Pentatricopeptide_repeat
IPR033443 PPR_long
IPR011990 TPR-like_helical_dom_sf
PfamiView protein in Pfam
PF13812 PPR_3, 1 hit
PF17177 PPR_long, 1 hit
TIGRFAMsiTIGR00756 PPR, 1 hit
PROSITEiView protein in PROSITE
PS51375 PPR, 7 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

O75127-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDFVRLARLF ARARPMGLFI LQHLDPCRAR WAGGREGLMR PMWAPFSSSS
60 70 80 90 100
SQLPLGQERQ ENTGSLGSDP SHSNSTATQE EDEEEEESFG TLSDKYSSRR
110 120 130 140 150
LFRKSAAQFH NLRFGERRDE QMEPEPKLWR GRRNTPYWYF LQCKHLIKEG
160 170 180 190 200
KLVEALDLFE RQMLKEERLQ PMESNYTVLI GGCGRVGYLK KAFNLYNQMK
210 220 230 240 250
KRDLEPSDAT YTALFNVCAE SPWKDSALQS ALKLRQQLQA KNFELNLKTY
260 270 280 290 300
HALLKMAAKC ADLRMCLDVF KEIIHKGHVV TEETFSFLLM GCIQDKKTGF
310 320 330 340 350
RYALQVWRLM LSLGLQPSRD SYNLLLVAAR DCGLGDPQVA SELLLKPREE
360 370 380 390 400
ATVLQPPVSR QRPRRTAQAK AGNLMSAMLH VEALERQLFL EPSQALGPPE
410 420 430 440 450
PPEARVPGKA QPEVDTKAEP SHTAALTAVA LKPPPVELEV NLLTPGAVPP
460 470 480 490 500
TVVSFGTVTT PADRLALIGG LEGFLSKMAE HRQQPDIRTL TLLAEVVESG
510 520 530 540 550
SPAESLLLAL LDEHQVEADL TFFNTLVRKK SKLGDLEGAK ALLPVLAKRG
560 570 580 590 600
LVPNLQTFCN LAIGCHRPKD GLQLLTDMKK SQVTPNTHIY SALINAAIRK
610 620 630 640 650
LNYTYLISIL KDMKQNRVPV NEVVIRQLEF AAQYPPTFDR YQGKNTYLEK
660 670 680 690 700
IDGFRAYYKQ WLTVMPAEET PHPWQKFRTK PQGDQDTGKE ADDGCALGGR
Length:700
Mass (Da):78,856
Last modified:March 29, 2005 - v2
Checksum:iE5075DC65C3D40E0
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JWL7C9JWL7_HUMAN
Pentatricopeptide repeat-containing...
PTCD1
106Annotation score:
C9JQN9C9JQN9_HUMAN
Pentatricopeptide repeat-containing...
PTCD1
144Annotation score:
C9JGL8C9JGL8_HUMAN
Pentatricopeptide repeat-containing...
PTCD1
164Annotation score:

Sequence cautioni

The sequence BAA31607 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti505S → F in AAH80580 (PubMed:12853948).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052936356P → L. Corresponds to variant dbSNP:rs34714513Ensembl.1
Natural variantiVAR_052937620V → G. Corresponds to variant dbSNP:rs35633728Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014532 mRNA Translation: BAA31607.1 Different initiation.
AC004922 Genomic DNA No translation available.
AC073063 Genomic DNA No translation available.
AC090113 Genomic DNA No translation available.
BC003688 mRNA Translation: AAH03688.2
BC080580 mRNA Translation: AAH80580.1
BC103502 mRNA Translation: AAI03503.1
CCDSiCCDS34691.1
PIRiT00383
RefSeqiNP_056360.2, NM_015545.3
UniGeneiHs.632313
Hs.729925

Genome annotation databases

EnsembliENST00000292478; ENSP00000292478; ENSG00000106246
GeneIDi26024
KEGGihsa:26024
UCSCiuc003uqh.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014532 mRNA Translation: BAA31607.1 Different initiation.
AC004922 Genomic DNA No translation available.
AC073063 Genomic DNA No translation available.
AC090113 Genomic DNA No translation available.
BC003688 mRNA Translation: AAH03688.2
BC080580 mRNA Translation: AAH80580.1
BC103502 mRNA Translation: AAI03503.1
CCDSiCCDS34691.1
PIRiT00383
RefSeqiNP_056360.2, NM_015545.3
UniGeneiHs.632313
Hs.729925

3D structure databases

ProteinModelPortaliO75127
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117493, 43 interactors
DIPiDIP-56845N
IntActiO75127, 22 interactors
MINTiO75127
STRINGi9606.ENSP00000450995

PTM databases

iPTMnetiO75127
PhosphoSitePlusiO75127

Polymorphism and mutation databases

BioMutaiPTCD1

Proteomic databases

EPDiO75127
MaxQBiO75127
PaxDbiO75127
PeptideAtlasiO75127
PRIDEiO75127
ProteomicsDBi49780

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000292478; ENSP00000292478; ENSG00000106246
GeneIDi26024
KEGGihsa:26024
UCSCiuc003uqh.4 human

Organism-specific databases

CTDi26024
EuPathDBiHostDB:ENSG00000106246.17
GeneCardsiPTCD1
HGNCiHGNC:22198 PTCD1
HPAiHPA020106
HPA047679
MIMi614774 gene
neXtProtiNX_O75127
OpenTargetsiENSG00000106246
PharmGKBiPA134877986
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4092 Eukaryota
KOG4197 Eukaryota
ENOG410Z7Z7 LUCA
GeneTreeiENSGT00390000015597
HOGENOMiHOG000237315
HOVERGENiHBG053748
InParanoidiO75127
KOiK17710
OrthoDBiEOG091G02E4
PhylomeDBiO75127

Miscellaneous databases

ChiTaRSiPTCD1 human
GenomeRNAii26024
PROiPR:O75127
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106246 Expressed in 226 organ(s), highest expression level in amniotic fluid
CleanExiHS_PTCD1
ExpressionAtlasiO75127 baseline and differential
GenevisibleiO75127 HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR002885 Pentatricopeptide_repeat
IPR033443 PPR_long
IPR011990 TPR-like_helical_dom_sf
PfamiView protein in Pfam
PF13812 PPR_3, 1 hit
PF17177 PPR_long, 1 hit
TIGRFAMsiTIGR00756 PPR, 1 hit
PROSITEiView protein in PROSITE
PS51375 PPR, 7 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPTCD1_HUMAN
AccessioniPrimary (citable) accession number: O75127
Secondary accession number(s): Q3ZB78, Q66K60, Q9UDV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 29, 2005
Last modified: November 7, 2018
This is version 129 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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