Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10128
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich pentatricopeptide repeat containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRPPRC
Synonyms (NCBI Gene) Gene synonyms aliases
CLONE-23970, GP130, LRP130, LSFC, MC4DN5
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607544 15714 ENSG00000138095
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital lactic acidosis congenital lactic acidosis, saguenay-lac-saint-jean type rs863224054, rs1160846305, rs750343121, rs863225443, rs1300725076, rs758615834, rs1553388067, rs1553406772, rs863225444, rs1553396232, rs760186575, rs1553391303, rs752914914, rs863225445, rs774934005
View all (34 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholelithiasis Cholelithiasis N/A N/A GWAS
Cytochrome-C Oxidase Deficiency cytochrome-c oxidase deficiency disease N/A N/A GenCC
Insomnia Insomnia N/A N/A GWAS
leigh syndrome Leigh syndrome N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37789316
Atrophy Associate 32972427
Brain Diseases Associate 32972427
Carcinogenesis Associate 24375316, 37789316, 40611540
Carcinoma Hepatocellular Associate 34690344, 35833147, 37399661
Cardiomyopathies Associate 26510951
Colorectal Neoplasms Associate 35484333, 37194014
Cytochrome c Oxidase Deficiency Associate 20200222, 25214534, 25835550
Deglutition Disorders Associate 32972427
Developmental Disabilities Associate 32972427