LRPPRC (leucine rich pentatricopeptide repeat containing)
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| Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10128 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Leucine rich pentatricopeptide repeat containing |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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LRPPRC |
SynonymsGene synonyms aliases
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CLONE-23970, GP130, LRP130, LSFC, MC4DN5 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p21 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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| 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 |
| rs149693840 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs181626399 |
G>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
| rs190007694 |
T>G |
Likely-pathogenic |
Intron variant |
| rs199706677 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
| rs747400412 |
C>T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs750343121 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs752914914 |
GATA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs758615834 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs759052246 |
A>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs762254417 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs765911841 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs769022521 |
T>-,TT,TTTTTTTTTT |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, inframe insertion |
| rs774857058 |
C>A,G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs774934005 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs775735922 |
G>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
| rs786205523 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs797044605 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs863224052 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
| rs863224053 |
A>G |
Pathogenic |
Splice donor variant |
| rs863224054 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs863224055 |
C>A,T |
Pathogenic |
Splice donor variant |
| rs863224057 |
A>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs863224058 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
| rs863224059 |
CC>AAA |
Pathogenic |
Coding sequence variant, non coding transcript variant, splice donor variant |
| rs863225443 |
C>A,G |
Pathogenic |
Genic downstream transcript variant, splice donor variant, intron variant |
| rs863225444 |
CCA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs863225445 |
CTT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs896524026 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, missense variant |
| rs989113962 |
G>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1060499785 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
| rs1160846305 |
A>C,T |
Likely-pathogenic |
5 prime UTR variant, missense variant, non coding transcript variant, initiator codon variant |
| rs1166980943 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs1202515342 |
C>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, stop gained, coding sequence variant |
| rs1249427615 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
| rs1266345519 |
C>A,T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant |
| rs1300725076 |
CTCT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1301842578 |
A>T |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1453934366 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1475772376 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
| rs1553388067 |
A>C |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs1553391303 |
ACTT>- |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant |
| rs1553396232 |
A>C |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553398334 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1553400391 |
C>A |
Likely-pathogenic |
Splice donor variant |
| rs1553400685 |
TTATACTTTTCATA>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1553400727 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1553403303 |
C>T |
Likely-pathogenic |
Splice donor variant |
| rs1553403596 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1553403879 |
CA>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1553404194 |
A>T |
Likely-pathogenic |
Splice donor variant |
| rs1553406772 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553408603 |
A>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1553410852 |
A>G |
Likely-pathogenic |
Splice donor variant |
| rs1553410866 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553410876 |
C>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1553410995 |
G>C |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553411748 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553411751 |
G>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553413047 |
TCAA>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1553416989 |
C>T |
Likely-pathogenic |
5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant |
| rs1558936154 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1572894174 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant |
| rs1572894465 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
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| 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
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| 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 |
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Sequence |
MAALLRSARWLLRAGAAPRLPLSLRLLPGGPGRLHAASYLPAARAGPVAGGLLSPARLYA
IAAKEKDIQEESTFSSRKISNQFDWALMRLDLSVRRTGRIPKKLLQKVFNDTCRSGGLGG
SHALLLLRSCGSLLPELKLEERTEFAHRIWDTLQKLGAVYDVSHYNALLKVYLQNEYKFS
PTDFLAKMEEANIQPNRVTYQRLIASYCNVGDIEGASKILGFMKTKDLPVTEAVFSALVT
GHARAGDMENAENILTVMRDAGIEPGPDTYLALLNAYAEKGDIDHVKQTLEKVEKSELHL
MDRDLLQIIFSFSKAGYPQYVSEILEKVTCERRYIPDAMNLILLLVTEKLEDVALQILLA
CPVSKEDGPSVFGSFFLQHCVTMNTPVEKLTDYCKKLKEVQMHSFPLQFTLHCALLANKT
DLAKALMKAVKEEGFPIRPHYFWPLLVGRRKEKNVQGIIEILKGMQELGVHPDQETYTDY
VIPCFDSVNSARAILQENGCLSDSDMFSQAGLRSEAANGNLDFVLSFLKSNTLPISLQSI
RSSLLLGFRRSMNINLWSEITELLYKDGRYCQEPRGPTEAVGYFLYNLIDSMSDSEVQAK
EEHLRQYFHQLEKMNVKIPENIYRGIRNLLESYHVPELIKDAHLLVESKNLDFQKTVQLT
SSELESTLETLKAENQPIRDVLKQLILVLCSEENMQKALELKAKYESDMVTGGYAALINL
CCRHDKVEDALNLKEEFDRLDSSAVLDTGKYVGLVRVLAKHGKLQDAINILKEMKEKDVL
IKDTTALSFFHMLNGAALRGEIETVKQLHEAIVTLGLAEPSTNISFPLVTVHLEKGDLST
ALEVAIDCYEKYKVLPRIHDVLCKLVEKGETDLIQKAMDFVSQEQGEMVMLYDLFFAFLQ
TGNYKEAKKIIETPGIRARSARLQWFCDRCVANNQVETLEKLVELTQKLFECDRDQMYYN
LLKLYKINGDWQRADAVWNKIQEENVIPREKTLRLLAEILREGNQEVPFDVPELWYEDEK
HSLNSSSASTTEPDFQKDILIACRLNQKKGAYDIFLNAKEQNIVFNAETYSNLIKLLMSE
DYFTQAMEVKAFAETHIKGFTLNDAANSRLIITQVRRDYLKEAVTTLKTVLDQQQTPSRL
AVTRVIQALAMKGDVENIEVVQKMLNGLEDSIGLSKMVFINNIALAQIKNNNIDAAIENI
ENMLTSENKVIEPQYFGLAYLFRKVIEEQLEPAVEKISIMAERLANQFAIYKPVTDFFLQ
LVDAGKVDDARALLQRCGAIAEQTPILLLFLLRNSRKQGKASTVKSVLELIPELNEKEEA
YNSLMKSYVSEKDVTSAKALYEHLTAKNTKLDDLFLKRYASLLKYAGEPVPFIEPPESFE
FYAQQLRKLRENSS
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| Sequence length |
1394 |
| Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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| Associated diseases
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| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Congenital lactic acidosis |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
rs119466000, rs797044605, rs863224052, rs863224053, rs863225443, rs863225444, rs863225445, rs769022521, rs1060499785, rs762254417, rs1553400685, rs1553403596, rs1553411748, rs1453934366, rs1160846305, rs1553388067, rs1553391303, rs1202515342, rs1553398334, rs1553400391, rs1301842578, rs1553403303, rs1553403879, rs1166980943, rs1553400727, rs750343121, rs1553406772, rs752914914, rs1553404194, rs775735922, rs1553416989, rs1553410866, rs1553410995, rs1553411751, rs1553413047, rs1475772376, rs1300725076, rs1553396232, rs774934005, rs896524026, rs1553408603, rs1553410852, rs1553410876, rs1249427615, rs989113962, rs1558936154, rs863224054, rs1591117575, rs758615834, rs760186575 |
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| Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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| Leigh syndrome |
Leigh Disease, Leigh syndrome , French Canadian type, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, Leigh Syndrome Due To Mitochondrial Complex II Deficiency, Leigh Syndrome due to Mitochondrial Complex III Deficiency, Leigh Syndrome due to Mitochondrial Complex IV Deficiency, Leigh Syndrome due to Mitochondrial Complex V Deficiency |
rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135, rs199476138, rs267606614, rs207459999, rs199476104, rs199476105, rs199476107, rs199476109, rs267606893, rs267606897, rs28384199, rs267606890, rs199476117, rs267606891, rs267606889, rs199476118, rs199476123, rs121918657, rs28933402, rs782316919, rs121913659, rs768050261, rs121913660, rs121913661, rs201431517, rs1556423632, rs587776949, rs201889294, rs398123061, rs398124308, rs587776434, rs587776438, rs587776440, rs1556423547, rs587776497, rs587776498, rs797045055, rs375169579, rs782490558, rs782190413, rs863224228, rs863224229, rs757486575, rs750831299, rs863224926, rs864309500, rs761389904, rs147816470, rs150613320, rs782623477, rs782007828, rs782349178, rs1057517942, rs199683937, rs1057521059, rs1057520688, rs781948238, rs782024654, rs782289759, rs1131692037, rs1161932777, rs1242159511, rs773850151, rs1553997617, rs1554768246, rs1410388157, rs1554059248, rs1554062427, rs1267554976, rs1391748504, rs376281345, rs772294726, rs1554768333, rs149718203, rs536758576, rs1555066709, rs1053850536, rs1564349176, rs782061187, rs762620949, rs1219762677, rs761097220, rs747359752, rs782609482, rs1229474296, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1603222000, rs1603223363, rs1603224017, rs1603220522, rs1603221804, rs1603222011, rs1603222119, rs1574663066, rs778120270, rs1574675683, rs1559047521, rs747249702, rs1244071473, rs1588693841, rs746519257, rs1591111808, rs766830864, rs1363125797, rs1836430953 |
26510951, 27977873, 21266382, 18853439, 25835550, 12529507, 25428350, 22045337, 12529507, 26510951, 27604308, 21266382, 24399447, 17050673, 29152527, 25835550, 26510951, 25428350, 22045337, 18853439, 12529507, 21266382, 27977873, 22045337, 27977873, 12529507, 26510951, 21266382, 18853439, 25428350, 25835550, 22045337, 27977873, 26510951, 12529507, 21266382, 25835550, 25428350, 18853439, 12529507, 18853439, 22045337, 21266382, 26510951, 25835550, 27977873, 25428350, 18853439, 21266382, 12529507, 27977873, 25428350, 26510951, 22045337, 25835550 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Central nervous system demyelination |
Central nervous system demyelination |
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| Hyperglycemia |
Hyperglycemia |
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| Hypoglycemia |
Hypoglycemia |
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| Mitochondrial diseases |
Mitochondrial Diseases |
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27604308 |
| Necrotizing encephalomyelopathy |
Necrotizing encephalopathy, infantile subacute, of Leigh |
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18853439, 21266382, 25428350, 25835550, 12529507, 27977873, 22045337, 26510951 |
| Strabismus |
Strabismus |
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