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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
651
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV001844744
RCV003471129
RCV004571451
RCV003146299
RCV003464169
RCV004571721
RCV003464387
RCV003471171
RCV002283382
RCV002302587
RCV002306466
RCV002306614
RCV002306764
RCV002306775
RCV002309562
RCV002309569
RCV002309603
RCV002309729
RCV002309734
RCV002309782
RCV002310045
RCV002307968
RCV002308025
RCV002308049
RCV002308153
RCV002308162
RCV002308166
RCV002308248
RCV002308306
RCV002309035
RCV002309085
RCV002309268
RCV002309400
RCV002309498
RCV002306853
RCV002306903
RCV002306943
RCV002306950
RCV002306972
RCV002306991
RCV002307036
RCV002307057
RCV002307073
RCV002307136
RCV002307156
RCV002307291
RCV002307300
RCV002310097
RCV002310149
RCV002310159
RCV002310169
RCV002310297
RCV002310308
RCV002310377
RCV002310385
RCV002310389
RCV002310444
RCV002310480
RCV002310493
RCV002310503
RCV002310504
RCV002310585
RCV002308418
RCV002308442
RCV000003257
RCV005028250
RCV005025925
RCV005027925
RCV005027965
RCV003464615
RCV003465853
RCV000194544
RCV002282031
RCV003468888
RCV003465866
RCV004572523
RCV005028121
RCV000202399
RCV000202390
RCV000202395
RCV000202398
RCV000202391
RCV003225667
RCV003230837
RCV003469943
RCV003461791
RCV003469944
RCV003461792
RCV003469945
RCV003469946
RCV003476459
RCV003469947
RCV003461793
RCV003469948
RCV003461794
RCV003469949
RCV003461795
RCV003469950
RCV003476460
RCV003469952
RCV003469953
RCV003469954
RCV003469955
RCV003469956
RCV003469957
RCV003469958
RCV003461796
RCV003476461
RCV003469959
RCV003469960
RCV003469961
RCV003461798
RCV003469962
RCV003461799
RCV003461800
RCV003469963
RCV003469964
RCV003461801
RCV003469965
RCV003469966
RCV003469967
RCV003469968
RCV003469969
RCV003461802
RCV003469970
RCV003469971
RCV004574069
RCV005030084
RCV003990827
RCV004527105
RCV004576808
RCV004576809
RCV004576810
RCV004576811
RCV004576812
RCV004576813
RCV004576814
RCV004576815
RCV004576816
RCV004576817
RCV000454266
RCV003465367
RCV000670533
RCV000672873
RCV000672256
RCV000665018
RCV000670107
RCV000672912
RCV000666477
RCV000672746
RCV000671622
RCV000667374
RCV000672077
RCV000669196
RCV000673650
RCV000668938
RCV000673086
RCV000673452
RCV000671397
RCV000667860
RCV000669822
RCV000667500
RCV000665443
RCV000673811
RCV000669058
RCV000671275
RCV000667377
RCV000668430
RCV000666643
RCV000665798
RCV000668076
RCV000669968
RCV000668867
RCV000673044
RCV000667170
RCV000666673
RCV000666329
RCV000671441
RCV000781512
RCV000985154
RCV001004168
RCV003467743
RCV005029836
Hepatocellular carcinoma Likely pathogenic rs1330743871 RCV005931352
LRPPRC-related disorder Likely pathogenic; Pathogenic rs1351402169, rs119466000 RCV004752058
RCV003944794
Nonpapillary renal cell carcinoma Likely pathogenic rs2103624540 RCV005926787
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign; Conflicting classifications of pathogenicity rs78949539, rs35113761, rs144826521, rs10495910 RCV005915972
RCV005890917
RCV005893510
RCV005906905
Adrenocortical carcinoma, hereditary Benign rs35113761 RCV005890920
Cervical cancer Likely benign; Benign rs78949539, rs10495910 RCV005915973
RCV005906907
Cholangiocarcinoma Benign rs35113761 RCV005890930
Associations from Text MiningDisease 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