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Protein

Leucine-rich PPR motif-containing protein, mitochondrial

Gene

LRPPRC

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

Functioni

May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity).By similarity6 Publications

GO - Molecular functioni

  • beta-tubulin binding Source: HGNC
  • microtubule binding Source: HGNC
  • poly(A) RNA binding Source: UniProtKB
  • RNA binding Source: UniProtKB
  • single-stranded DNA binding Source: Ensembl
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

mRNA transport, Transcription, Transcription regulation, Transport

Keywords - Ligandi

DNA-binding, RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138095-MONOMER.
ReactomeiR-HSA-5628897. TP53 Regulates Metabolic Genes.
R-HSA-611105. Respiratory electron transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich PPR motif-containing protein, mitochondrial
Alternative name(s):
130 kDa leucine-rich protein
Short name:
LRP 130
GP130
Gene namesi
Name:LRPPRC
Synonyms:LRP130
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:15714. LRPPRC.

Subcellular locationi

GO - Cellular componenti

  • condensed nuclear chromosome Source: HGNC
  • cytoskeleton Source: HGNC
  • intracellular ribonucleoprotein complex Source: Ensembl
  • membrane Source: UniProtKB
  • microtubule Source: UniProtKB
  • mitochondrial nucleoid Source: BHF-UCL
  • mitochondrion Source: UniProtKB
  • nuclear inner membrane Source: UniProtKB-SubCell
  • nuclear outer membrane Source: UniProtKB-SubCell
  • nucleoplasm Source: UniProtKB-SubCell
  • nucleus Source: UniProtKB
  • perinuclear region of cytoplasm Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome French-Canadian type (LSFC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada, a biochemically distinct form of Leigh syndrome with COX deficiency has been described. Patients have been observed to have a developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, and high mortality due to episodes of severe acidosis and coma. Enzyme activity was close to normal in kidney and heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brain and liver. LSFC patients show reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and a specifically reduced translation of COX subunits MT-CO1/COXI and MT-CO3 (COXIII).
See also OMIM:220111
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018656354A → V in LSFC. 1 PublicationCorresponds to variant rs119466000dbSNPEnsembl.1
Natural variantiVAR_075428866Missing in LSFC; unknown pathological significance. 1 Publication1
Natural variantiVAR_075429909Missing in LSFC; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

DisGeNETi10128.
MalaCardsiLRPPRC.
MIMi220111. phenotype.
OpenTargetsiENSG00000138095.
Orphaneti70472. Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type.
PharmGKBiPA30459.

Polymorphism and mutation databases

BioMutaiLRPPRC.
DMDMi156632706.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 59MitochondrionSequence analysisAdd BLAST59
ChainiPRO_000008446760 – 1394Leucine-rich PPR motif-containing protein, mitochondrialAdd BLAST1335

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei155N6-acetyllysineCombined sources1
Modified residuei187N6-acetyllysineCombined sources1
Modified residuei226N6-acetyllysineBy similarity1
Modified residuei292N6-acetyllysineCombined sources1
Modified residuei463N6-acetyllysineBy similarity1
Modified residuei613N6-acetyllysineCombined sources1
Modified residuei726N6-acetyllysineCombined sources1
Modified residuei750N6-acetyllysineCombined sources1
Modified residuei1026PhosphoserineCombined sources1
Modified residuei1027PhosphoserineBy similarity1
Modified residuei1029PhosphoserineCombined sources1
Modified residuei1136PhosphothreonineCombined sources1
Modified residuei1138PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP42704.
MaxQBiP42704.
PaxDbiP42704.
PeptideAtlasiP42704.
PRIDEiP42704.

PTM databases

iPTMnetiP42704.
PhosphoSitePlusiP42704.
SwissPalmiP42704.

Expressioni

Tissue specificityi

Expressed ubiquitously. Expression is highest in heart, skeletal muscle, kidney and liver, intermediate in brain, non-mucosal colon, spleen and placenta, and lowest in small intestine, thymus, lung and peripheral blood leukocytes.2 Publications

Gene expression databases

BgeeiENSG00000138095.
CleanExiHS_LRPPRC.
ExpressionAtlasiP42704. baseline and differential.
GenevisibleiP42704. HS.

Organism-specific databases

HPAiCAB033786.
HPA036408.
HPA036409.

Interactioni

Subunit structurei

Interacts with CECR2, HEBP2, MAP1S and UXT. Interacts with PPARGC1A. Interacts with FOXO1 (By similarity). Component of mRNP complexes associated with HNRPA1.By similarity4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
EIF4EP067306EBI-1050853,EBI-73440
PPARGC1AQ9UBK22EBI-1050853,EBI-765486
SLIRPQ9GZT33EBI-1050853,EBI-1050793

GO - Molecular functioni

  • beta-tubulin binding Source: HGNC
  • microtubule binding Source: HGNC
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi115432. 108 interactors.
DIPiDIP-27543N.
IntActiP42704. 61 interactors.
MINTiMINT-205076.
STRINGi9606.ENSP00000260665.

Structurei

3D structure databases

ProteinModelPortaliP42704.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati126 – 160PPR 1Add BLAST35
Repeati161 – 195PPR 2Add BLAST35
Repeati196 – 230PPR 3Add BLAST35
Repeati231 – 265PPR 4Add BLAST35
Repeati266 – 300PPR 5Add BLAST35
Repeati301 – 335PPR 6Add BLAST35
Repeati403 – 437PPR 7Add BLAST35
Repeati438 – 472PPR 8Add BLAST35
Repeati678 – 709PPR 9Add BLAST32
Repeati710 – 746PPR 10Add BLAST37
Repeati747 – 784PPR 11Add BLAST38
Repeati785 – 820PPR 12Add BLAST36
Repeati821 – 856PPR 13Add BLAST36
Repeati954 – 988PPR 14Add BLAST35
Repeati1031 – 1065PPR 15Add BLAST35
Repeati1066 – 1102PPR 16Add BLAST37
Repeati1103 – 1137PPR 17Add BLAST35
Repeati1138 – 1175PPR 18Add BLAST38
Repeati1176 – 1210PPR 19Add BLAST35
Repeati1317 – 1351PPR 20Add BLAST35

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1121 – 1394RNA-bindingAdd BLAST274

Sequence similaritiesi

Contains 20 PPR (pentatricopeptide) repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiKOG4318. Eukaryota.
ENOG410XSG9. LUCA.
GeneTreeiENSGT00390000016775.
HOVERGENiHBG097314.
InParanoidiP42704.
KOiK17964.
OMAiVIRCCGN.
OrthoDBiEOG091G06CN.
PhylomeDBiP42704.
TreeFamiTF323626.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR033490. LRP130.
IPR002885. Pentatricopeptide_repeat.
IPR033443. PPR_long.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PANTHERiPTHR24015:SF187. PTHR24015:SF187. 8 hits.
PfamiPF01535. PPR. 3 hits.
PF13812. PPR_3. 1 hit.
PF17177. PPR_long. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00756. PPR. 2 hits.
PROSITEiPS51375. PPR. 11 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P42704-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAALLRSARW LLRAGAAPRL PLSLRLLPGG PGRLHAASYL PAARAGPVAG
60 70 80 90 100
GLLSPARLYA IAAKEKDIQE ESTFSSRKIS NQFDWALMRL DLSVRRTGRI
110 120 130 140 150
PKKLLQKVFN DTCRSGGLGG SHALLLLRSC GSLLPELKLE ERTEFAHRIW
160 170 180 190 200
DTLQKLGAVY DVSHYNALLK VYLQNEYKFS PTDFLAKMEE ANIQPNRVTY
210 220 230 240 250
QRLIASYCNV GDIEGASKIL GFMKTKDLPV TEAVFSALVT GHARAGDMEN
260 270 280 290 300
AENILTVMRD AGIEPGPDTY LALLNAYAEK GDIDHVKQTL EKVEKSELHL
310 320 330 340 350
MDRDLLQIIF SFSKAGYPQY VSEILEKVTC ERRYIPDAMN LILLLVTEKL
360 370 380 390 400
EDVALQILLA CPVSKEDGPS VFGSFFLQHC VTMNTPVEKL TDYCKKLKEV
410 420 430 440 450
QMHSFPLQFT LHCALLANKT DLAKALMKAV KEEGFPIRPH YFWPLLVGRR
460 470 480 490 500
KEKNVQGIIE ILKGMQELGV HPDQETYTDY VIPCFDSVNS ARAILQENGC
510 520 530 540 550
LSDSDMFSQA GLRSEAANGN LDFVLSFLKS NTLPISLQSI RSSLLLGFRR
560 570 580 590 600
SMNINLWSEI TELLYKDGRY CQEPRGPTEA VGYFLYNLID SMSDSEVQAK
610 620 630 640 650
EEHLRQYFHQ LEKMNVKIPE NIYRGIRNLL ESYHVPELIK DAHLLVESKN
660 670 680 690 700
LDFQKTVQLT SSELESTLET LKAENQPIRD VLKQLILVLC SEENMQKALE
710 720 730 740 750
LKAKYESDMV TGGYAALINL CCRHDKVEDA LNLKEEFDRL DSSAVLDTGK
760 770 780 790 800
YVGLVRVLAK HGKLQDAINI LKEMKEKDVL IKDTTALSFF HMLNGAALRG
810 820 830 840 850
EIETVKQLHE AIVTLGLAEP STNISFPLVT VHLEKGDLST ALEVAIDCYE
860 870 880 890 900
KYKVLPRIHD VLCKLVEKGE TDLIQKAMDF VSQEQGEMVM LYDLFFAFLQ
910 920 930 940 950
TGNYKEAKKI IETPGIRARS ARLQWFCDRC VANNQVETLE KLVELTQKLF
960 970 980 990 1000
ECDRDQMYYN LLKLYKINGD WQRADAVWNK IQEENVIPRE KTLRLLAEIL
1010 1020 1030 1040 1050
REGNQEVPFD VPELWYEDEK HSLNSSSAST TEPDFQKDIL IACRLNQKKG
1060 1070 1080 1090 1100
AYDIFLNAKE QNIVFNAETY SNLIKLLMSE DYFTQAMEVK AFAETHIKGF
1110 1120 1130 1140 1150
TLNDAANSRL IITQVRRDYL KEAVTTLKTV LDQQQTPSRL AVTRVIQALA
1160 1170 1180 1190 1200
MKGDVENIEV VQKMLNGLED SIGLSKMVFI NNIALAQIKN NNIDAAIENI
1210 1220 1230 1240 1250
ENMLTSENKV IEPQYFGLAY LFRKVIEEQL EPAVEKISIM AERLANQFAI
1260 1270 1280 1290 1300
YKPVTDFFLQ LVDAGKVDDA RALLQRCGAI AEQTPILLLF LLRNSRKQGK
1310 1320 1330 1340 1350
ASTVKSVLEL IPELNEKEEA YNSLMKSYVS EKDVTSAKAL YEHLTAKNTK
1360 1370 1380 1390
LDDLFLKRYA SLLKYAGEPV PFIEPPESFE FYAQQLRKLR ENSS
Length:1,394
Mass (Da):157,905
Last modified:July 24, 2007 - v3
Checksum:i61AB0C8BF8A972E6
GO

Sequence cautioni

The sequence AAA67549 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAA67549 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54S → G in BAF82705 (PubMed:14702039).Curated1
Sequence conflicti296S → F in AAA67549 (PubMed:8012652).Curated1
Sequence conflicti528 – 531LKSN → YFPI in AAH26034 (PubMed:15489334).Curated4
Sequence conflicti556L → V in AAA67549 (PubMed:8012652).Curated1
Sequence conflicti583Y → N in AAA67549 (PubMed:8012652).Curated1
Sequence conflicti648S → R in AAA67549 (PubMed:8012652).Curated1
Sequence conflicti676Q → R in BAC86287 (PubMed:14702039).Curated1
Sequence conflicti702K → R in BAC86287 (PubMed:14702039).Curated1
Sequence conflicti750 – 752KYV → NYL in AAA67549 (PubMed:8012652).Curated3
Sequence conflicti769N → K in AAA67549 (PubMed:8012652).Curated1
Sequence conflicti1192N → D in BAC86287 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018656354A → V in LSFC. 1 PublicationCorresponds to variant rs119466000dbSNPEnsembl.1
Natural variantiVAR_052935478T → A.Corresponds to variant rs35035668dbSNPEnsembl.1
Natural variantiVAR_075428866Missing in LSFC; unknown pathological significance. 1 Publication1
Natural variantiVAR_075429909Missing in LSFC; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY289212 mRNA. Translation: AAP41922.1.
AK125781 mRNA. Translation: BAC86287.1.
AK290016 mRNA. Translation: BAF82705.1.
AC108476 Genomic DNA. Translation: AAY24012.1.
AC127379 Genomic DNA. Translation: AAY24043.1.
BC010282 mRNA. Translation: AAH10282.1.
BC026034 mRNA. Translation: AAH26034.1.
BC050311 mRNA. Translation: AAH50311.1.
BC130285 mRNA. Translation: AAI30286.1.
M92439 mRNA. Translation: AAA67549.1. Sequence problems.
CCDSiCCDS33189.1.
PIRiS27954.
RefSeqiNP_573566.2. NM_133259.3.
UniGeneiHs.368084.

Genome annotation databases

EnsembliENST00000260665; ENSP00000260665; ENSG00000138095.
GeneIDi10128.
KEGGihsa:10128.
UCSCiuc002rtr.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY289212 mRNA. Translation: AAP41922.1.
AK125781 mRNA. Translation: BAC86287.1.
AK290016 mRNA. Translation: BAF82705.1.
AC108476 Genomic DNA. Translation: AAY24012.1.
AC127379 Genomic DNA. Translation: AAY24043.1.
BC010282 mRNA. Translation: AAH10282.1.
BC026034 mRNA. Translation: AAH26034.1.
BC050311 mRNA. Translation: AAH50311.1.
BC130285 mRNA. Translation: AAI30286.1.
M92439 mRNA. Translation: AAA67549.1. Sequence problems.
CCDSiCCDS33189.1.
PIRiS27954.
RefSeqiNP_573566.2. NM_133259.3.
UniGeneiHs.368084.

3D structure databases

ProteinModelPortaliP42704.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115432. 108 interactors.
DIPiDIP-27543N.
IntActiP42704. 61 interactors.
MINTiMINT-205076.
STRINGi9606.ENSP00000260665.

PTM databases

iPTMnetiP42704.
PhosphoSitePlusiP42704.
SwissPalmiP42704.

Polymorphism and mutation databases

BioMutaiLRPPRC.
DMDMi156632706.

Proteomic databases

EPDiP42704.
MaxQBiP42704.
PaxDbiP42704.
PeptideAtlasiP42704.
PRIDEiP42704.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260665; ENSP00000260665; ENSG00000138095.
GeneIDi10128.
KEGGihsa:10128.
UCSCiuc002rtr.3. human.

Organism-specific databases

CTDi10128.
DisGeNETi10128.
GeneCardsiLRPPRC.
H-InvDBHIX0023918.
HGNCiHGNC:15714. LRPPRC.
HPAiCAB033786.
HPA036408.
HPA036409.
MalaCardsiLRPPRC.
MIMi220111. phenotype.
607544. gene.
neXtProtiNX_P42704.
OpenTargetsiENSG00000138095.
Orphaneti70472. Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type.
PharmGKBiPA30459.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4318. Eukaryota.
ENOG410XSG9. LUCA.
GeneTreeiENSGT00390000016775.
HOVERGENiHBG097314.
InParanoidiP42704.
KOiK17964.
OMAiVIRCCGN.
OrthoDBiEOG091G06CN.
PhylomeDBiP42704.
TreeFamiTF323626.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138095-MONOMER.
ReactomeiR-HSA-5628897. TP53 Regulates Metabolic Genes.
R-HSA-611105. Respiratory electron transport.

Miscellaneous databases

ChiTaRSiLRPPRC. human.
GeneWikiiLRPPRC.
GenomeRNAii10128.
PROiP42704.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138095.
CleanExiHS_LRPPRC.
ExpressionAtlasiP42704. baseline and differential.
GenevisibleiP42704. HS.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR033490. LRP130.
IPR002885. Pentatricopeptide_repeat.
IPR033443. PPR_long.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PANTHERiPTHR24015:SF187. PTHR24015:SF187. 8 hits.
PfamiPF01535. PPR. 3 hits.
PF13812. PPR_3. 1 hit.
PF17177. PPR_long. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00756. PPR. 2 hits.
PROSITEiPS51375. PPR. 11 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLPPRC_HUMAN
AccessioniPrimary (citable) accession number: P42704
Secondary accession number(s): A0PJE3
, A8K1V1, Q53PC0, Q53QN7, Q6ZUD8, Q7Z7A6, Q96D84
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: July 24, 2007
Last modified: November 30, 2016
This is version 162 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

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 one 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.