Gene Gene information from NCBI Gene database.
Entrez ID 10128
Gene name Leucine rich pentatricopeptide repeat containing
Gene symbol LRPPRC
Synonyms (NCBI Gene)
CLONE-23970GP130LRP130LSFCMC4DN5
Chromosome 2
Chromosome location 2p21
Summary This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulat
SNPs SNP information provided by dbSNP.
68
SNP ID Visualize variation Clinical significance Consequence
rs111392631 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant, downstream transcript variant, genic downstream transcript variant
rs119466000 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs144732922 T>C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs146515622 C>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs148575027 T>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
724
miRTarBase ID miRNA Experiments Reference
MIRT019595 hsa-miR-340-5p Sequencing 20371350
MIRT031771 hsa-miR-16-5p Proteomics 18668040
MIRT036809 hsa-miR-877-3p CLASH 23622248
MIRT491024 hsa-miR-6813-3p PAR-CLIP 20371350
MIRT491023 hsa-miR-532-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000794 Component Condensed nuclear chromosome IDA 12762840
GO:0000957 Process Mitochondrial RNA catabolic process IEA
GO:0000961 Process Negative regulation of mitochondrial RNA catabolic process IEA
GO:0003677 Function DNA binding IEA
GO:0003697 Function Single-stranded DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607544 15714 ENSG00000138095
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42704
Protein name Leucine-rich PPR motif-containing protein, mitochondrial (130 kDa leucine-rich protein) (LRP 130) (GP130)
Protein function 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. P
PDB 8ANY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01535 PPR 198 228 PPR repeat Family
PF01535 PPR 233 263 PPR repeat Family
PF01535 PPR 268 298 PPR repeat Family
PF01535 PPR 714 741 PPR repeat Family
PF01535 PPR 751 779 PPR repeat Family
PF01535 PPR 1319 1348 PPR repeat Family
Tissue specificity TISSUE 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 and peripheral blood leukocytes. {ECO
Sequence
MAALLRSARWLLRAGAAPRLPLSLRLLPGGPGRLHAASYLPAARAGPVAGGLLSPARLYA
IAAKEKDIQEESTFSSRKISNQFDWALMRLDLSVRRTGRIPKKLLQKVFNDTCRSGGLGG
SHALLLLRSCGSLLPELKLEERTEFAHRIWDTLQKLGAVYDVSHYNALLKVYLQNEYKFS
PTDFLAKMEEANIQPNRVTYQRLIASYCNVGDIEGASKILGFMKTKDLPVTEAVFSALVT
GHARAGDMENAENILTVMRDAGI
EPGPDTYLALLNAYAEKGDIDHVKQTLEKVEKSELHL
MDRDLLQIIFSFSKAGYPQYVSEILEKVTCERRYIPDAMNLILLLVTEKLEDVALQILLA
CPVSKEDGPSVFGSFFLQHCVTMNTPVEKLTDYCKKLKEVQMHSFPLQFTLHCALLANKT
DLAKALMKAVKEEGFPIRPHYFWPLLVGRRKEKNVQGIIEILKGMQELGVHPDQETYTDY
VIPCFDSVNSARAILQENGCLSDSDMFSQAGLRSEAANGNLDFVLSFLKSNTLPISLQSI
RSSLLLGFRRSMNINLWSEITELLYKDGRYCQEPRGPTEAVGYFLYNLIDSMSDSEVQAK
EEHLRQYFHQLEKMNVKIPENIYRGIRNLLESYHVPELIKDAHLLVESKNLDFQKTVQLT
SSELESTLETLKAENQPIRDVLKQLILVLCSEENMQKALELKAKYESDMVTGGYAALINL
CCRHDKVEDALNLKEEFDRLD
SSAVLDTGKYVGLVRVLAKHGKLQDAINILKEMKEKDVL
IKDTTALSFFHMLNGAALRGEIETVKQLHEAIVTLGLAEPSTNISFPLVTVHLEKGDLST
ALEVAIDCYEKYKVLPRIHDVLCKLVEKGETDLIQKAMDFVSQEQGEMVMLYDLFFAFLQ
TGNYKEAKKIIETPGIRARSARLQWFCDRCVANNQVETLEKLVELTQKLFECDRDQMYYN
LLKLYKINGDWQRADAVWNKIQEENVIPREKTLRLLAEILREGNQEVPFDVPELWYEDEK
HSLNSSSASTTEPDFQKDILIACRLNQKKGAYDIFLNAKEQNIVFNAETYSNLIKLLMSE
DYFTQAMEVKAFAETHIKGFTLNDAANSRLIITQVRRDYLKEAVTTLKTVLDQQQTPSRL
AVTRVIQALAMKGDVENIEVVQKMLNGLEDSIGLSKMVFINNIALAQIKNNNIDAAIENI
ENMLTSENKVIEPQYFGLAYLFRKVIEEQLEPAVEKISIMAERLANQFAIYKPVTDFFLQ
LVDAGKVDDARALLQRCGAIAEQTPILLLFLLRNSRKQGKASTVKSVLELIPELNEKEEA
YNSLMKSYVSEKDVTSAKALYEHLTAKN
TKLDDLFLKRYASLLKYAGEPVPFIEPPESFE
FYAQQLRKLRENSS
Sequence length 1394
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
45
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Pathogenic; Likely pathogenic rs863225443, rs1672822541, rs746627889, rs2103713116, rs1351402169, rs2105077465, rs761052211, rs2103745422, rs1022152551, rs754855090, rs2103710225, rs2103624540, rs2105077651, rs2466569915, rs2465900165
View all (169 more)
RCV005616591
RCV001334481
RCV003469728
RCV003469654
RCV005614681
View all (183 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma Likely pathogenic rs1330743871 RCV005931352
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LRPPRC-related disorder Likely pathogenic; Pathogenic rs1351402169, rs119466000 RCV004752058
RCV003944794
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma Likely pathogenic rs2103624540 RCV005926787
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 7919380
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 7919380, 8907269
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 8641372
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20008143
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31657561
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 28130546
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 7919380
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 10480339, 29207075
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28726777
★☆☆☆☆
Found in Text Mining only
Angiolymphoid hyperplasia Angiolymphoid Hyperplasia BEFREE 23372742
★☆☆☆☆
Found in Text Mining only