LRPPRC Gene
protein-coding GIFtS: 59
GCID: GC02M044113
|
|
leucine-rich pentatricopeptide repeat containing(Previous names: Leigh syndrome, French-Canadian type (cytochrome oxidase...)
(Previous symbol: LSFC)
| |
Aliases
for LRPPRC gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Leucine-Rich Pentatricopeptide Repeat Containing1 2 | | Leigh Syndrome, French-Canadian Type (Cytochrome Oxidase Deficiency)1 | | LRP1301 2 3 5 | | CLONE-239702 | | GP1301 2 3 | | Leucine-Rich PPR Motif-Containing Protein, Mitochondrial2 | | LSFC1 2 5 | | Leucine-Rich PPR-Motif Containing2 | | 130 KDa Leucine-Rich Protein2 3 | | Mitochondrial Leucine-Rich PPR Motif-Containing Protein2 | | LRP 1302 3 | | |
Export aliases for LRPPRC gene to outside databasesPrevious GC identifers: GC02M044114 GC02M044283 GC02M044089 GC02M044026 GC02M043850 |
Summaries
for LRPPRC gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for LRPPRC:
This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of thisprotein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or intranscriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondriaand is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated withthe French-Canadian type of Leigh syndrome. (provided by RefSeq, Mar 2012)
UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704Function: May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associatedpoly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated withnuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Playsa role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved intranscription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenicgenes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcriptionregulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element ofMDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity)
Gene Wiki entry for LRPPRC
|
Genomic Views
for LRPPRC gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the LRPPRC gene promoter:
STAT5B STAT1 STAT4 STAT6 STAT1beta Nkx2-5 STAT5A STAT1alpha STAT2 STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for LRPPRC
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRPPRC |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p21 Ensembl cytogenetic band: 2p21 HGNC cytogenetic band: 2p21LRPPRC Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M044113: view genomic region
(about GC identifiers)
Start:
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44,113,363 bp from pter |
End:
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44,223,144 bp from pter |
Size:
|
109,782 bases |
Orientation:
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minus strand |
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Proteins
for LRPPRC gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704 (See
protein sequence)Recommended Name: Leucine-rich PPR motif-containing protein, mitochondrial precursor Size: 1394 amino acids; 157905 Da
Subunit: Interacts with CECR2, HEBP2, MAP1S and UXT. Interacts with PPARGC1A. Interacts with FOXO1 (By similarity).Component of mRNP complexes associated with HNRPA1
Subcellular location: Mitochondrion. Nucleus, nucleoplasm. Nucleus inner membrane. Nucleus outer membrane. Note=Seemsto be predominantly mitochondrial
Sequence caution: Sequence=AAA67549.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=AAA67549.1; Type=Frameshift; Positions=Several;
Secondary accessions: A0PJE3 A8K1V1 Q53PC0 Q53QN7 Q6ZUD8 Q7Z7A6 Q96D84Explore the universe of human proteins at neXtProt for LRPPRC: NX_P42704
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P42704
LRPPRC Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_573566.2
ENSEMBL proteins: ENSP00000260665 ENSP00000414207 ENSP00000386234 ENSP00000386562 ENSP00000403637
Human Recombinant Protein Products:
Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table
LRPPRC for ontologies About GeneDecksing
LRPPRC Antibody Products:
Assay Products for LRPPRC: |
Protein
Domains /
Families
for LRPPRC gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
LRPPRC for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P42704ProtoNet protein and cluster: P42704 1 Blocks protein family: IPB002885 PPR repeat
UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704Similarity: Contains 20 PPR (pentatricopeptide) repeats |
Function
for LRPPRC gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704Function: May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associatedpoly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated withnuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Playsa role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved intranscription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenicgenes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcriptionregulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element ofMDR1 and MVP gene promoters. Binds single-stranded DNA (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRPPRC (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRPPRC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: LRPPRC (NM_133259) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LRPPRC | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRPPRC |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPPRC |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
LRPPRC for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for LRPPRC:
Animal Models:
Mouse knock-out Lrpprctm1.2Lrsn for LRPPRC
5 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Lrpprc):
LRPPRC for phenotypes About GeneDecksing
|
Pathways & Interactions
for LRPPRC gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | TNF-alpha/NF-kB Signaling Pathway | |
1  BioSystems Pathway for LRPPRC
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LRPPRC
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/386 Interacting proteins for LRPPRC (P427041, 2, 3 ENSP000002606654) via UniProtKB, MINT, STRING, and/or I2D (see all 386)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| EIF4E | P067302, 3, ENSP000002808924 | MINT-7234946 MINT-7234984 MINT-7234837 MINT-7234920 MINT-7234963 MINT-7234999 I2D:
score=1 STRING: ENSP00000280892 | | YWHAZ | P631042, 3, ENSP000003095034 | MINT-3318393 MINT-3296940 I2D:
score=1 STRING: ENSP00000309503 | | PPARGC1A | Q9UBK21, 3, ENSP000002648674 | EBI-1050853,EBI-765486 I2D:
score=3 STRING: ENSP00000264867 | | HNRNPA1 | P096512, ENSP000003418264 | MINT-7234837 MINT-8395092 STRING: ENSP00000341826 | | ICT1 | Q141972, 3, ENSP000003015854 | MINT-8079030 I2D:
score=1 STRING: ENSP00000301585 |
About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
LRPPRC for ontologies About GeneDecksing
|
Drugs & Compounds
for LRPPRC gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for LRPPRC
Search CenterWatch for drugs/clinical trials and news about LRPPRC / LPPRC
|
Transcripts
for LRPPRC gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for LRPPRC gene: NM_133259.3 Unigene Cluster for LRPPRC: Leucine-rich pentatricopeptide repeat containing Hs.368084 [show with all ESTs]Unigene Representative Sequence: NM_1332599 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000260665(uc002rtr.2 uc010yob.1) ENST00000419884 ENST00000463456
ENST00000472420 ENST00000483489 ENST00000467058 ENST00000409946 ENST00000409659
ENST00000447246(uc010faw.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRPPRC (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRPPRC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: LRPPRC (NM_133259) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LRPPRC | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRPPRC |
Additional cDNA sequence: AF052133.1 AK125781.1 AK130686.1 AK290016.1 AK299869.1 AK308348.1 AY289212.1 BC010282.1 BC026034.1 BC050311.1 BC130285.1 M92439.1 24 DOTS entries: DT.448324 DT.101967385 DT.101972165 DT.99932958 DT.120973831 DT.100829245 DT.91872087 DT.95122153 DT.100829251 DT.100829252 DT.120973797 DT.120973839 DT.95069904 DT.95240435 DT.100829253 DT.40117778 DT.100651920 DT.120973767 DT.91864444 DT.95240425 DT.100660221 DT.100736852 DT.452250 DT.95227404 24/541 AceView cDNA sequences (see all 541): BU149202 CA419512 N49365 AA569998 AI473549 AU118081 BE694177 AL135588 BG621362 CB131311 BE302134 BU741076 AU129967 BQ636801 BQ048904 BU785715 BU629116 BX462603 AI655174 BU175481 CA430402 BF797898 BM756991 BG255344
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for LRPPRC (see all 13) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32a | · | 32b | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | - | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for LRPPRC
|
Expression
for LRPPRC gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| LRPPRC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTATTTTGAA
About this image
See LRPPRC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LRPPRC
SOURCE GeneReport for Unigene cluster: Hs.368084
UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704Tissue specificity: 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 andperipheral blood leukocytes
SABiosciences Expression via Pathway-Focused PCR Array including LRPPRC:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LRPPRC
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LRPPRC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRPPRC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRPPRC | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPPRC |
Orthologs
for LRPPRC gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for LRPPRC gene from 6/18 species (see all 18) About this table
ENSEMBL Gene Tree for LRPPRC (if available)
TreeFam Gene Tree for LRPPRC (if available) |
Paralogs
for LRPPRC gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for LRPPRC gene
LRPPRC for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for LRPPRC
PGOHUM00000248149
|
Genomic Variants
for LRPPRC gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for LRPPRC (44113363 - 44223144 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LRPPRC: --
Human Gene Mutation Database (HGMD): LRPPRC
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRPPRC |
|
Disorders
/ Diseases
for LRPPRC gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
LRPPRC for disorders About GeneDecksing
OMIM gene information: 607544
OMIM disorders: 220111
UniProtKB/Swiss-Prot: LPPRC_HUMAN, P42704
Defects in LRPPRC are the cause of Leigh syndrome French-Canadian type (LSFC) [MIM:220111]. Leigh syndrome isa severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regionsthat is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean regionof 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, chronicwell-compensated metabolic acidosis, and high mortality due to episodes of severe acidosis and coma. Enzyme activitywas close to normal in kidney and heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brainand liver. LSFC patients show reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and aspecifically reduced translation of COX subunits MT-CO1/COXI and MT-CO3 (COXIII)
5  diseases for LRPPRC: About MalaCardsleigh syndrome, french canadian type leigh disease hypotonia hepatoblastoma
neuroblastoma
1 disease from the University of Copenhagen DISEASES database for LRPPRC:Leigh disease 2 Novoseek disease relationships for LRPPRC gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cytochrome c oxidase deficiency |
90.9 |
2 |
12832482 (1), 15139850 (1) |
| leigh syndrome |
82.6 |
2 |
18039654 (1), 15139850 (1) |
Human Genome Epidemiology (HuGE) Navigator: LRPPRC (2 documents)
Export disorders for LRPPRC gene to outside databases
|
Publications
for LRPPRC gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for LRPPRC gene, integrated from 9 sources (see all 63):
(articles sorted by number of sources associating them with LRPPRC) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2). (PubMed id 8012652)1, 2, 3, 9 Hou J.... McKeehan W.L. (1994)
- LRP130, a pentatricopeptide motif protein with a noncanonical RNA- binding domain, is bound in vivo to mitochondrial and nuclear RNAs. (PubMed id 12832482)1, 2, 9 Mili S. and Pinol-Roma S. (2003)
- Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. (PubMed id 12529507)1, 2, 9 Mootha V.K.... Lander E.S. (2003)
- LRPPRC is necessary for polyadenylation and coordinat ion of translation of mitochondrial mRNAs. (PubMed id 22045337)1, 3 Ruzzenente B....Larsson N.G. (2012)
- Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex. (PubMed id 17050673)1, 2 Cooper M.P.... Spiegelman B.M. (2006)
- Putative tumor suppressor RASSF1 interactive protein and cell death inducer C19ORF5 is a DNA binding protein. (PubMed id 15907802)1, 2 Liu L.... McKeehan W.L. (2005)
- New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 protein. (PubMed id 15272088)1, 2 Labialle S....Baggetto L.G. (2004)
- Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity. (PubMed id 11827465)1, 2 Liu L. and McKeehan W.L. (2002)
- A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
- The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA. (PubMed id 15139850)2, 9 Xu F.... Robinson B.H. (2004)
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External Searches for LRPPRC gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing LRPPRC gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing LRPPRC gene
(According to HUGE)
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Specialized Databases showing LRPPRC gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for LRPPRC | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LRPPRC |
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About This Section
| Patent Information for LRPPRC gene:
Search GeneIP for patents involving LRPPRC
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for LRPPRC gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for LRPPRC | | OriGene shRNA RFP for LRPPRC | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LRPPRC | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LRPPRC | | | OriGene Protein Over-expression Lysate for LRPPRC | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for LRPPRC | | OriGene 3'-UTR Clone for LRPPRC | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LRPPRC | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LRPPRC | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for LRPPRC | | OriGene Custom Protein Services for LRPPRC | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LRPPRC | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRPPRC | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRPPRC | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LRPPRC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRPPRC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LRPPRC |
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| | | | Search Tocris compounds for LRPPRC |
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 | | | LRPPRC Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRPPRC |
|  |  |  | | | | ThermoFisher Antibody for LRPPRC |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRPPRC |
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