Details for: LRPPRC

Gene ID: 10128

Symbol: LRPPRC

Ensembl ID: ENSG00000138095

Description: leucine rich pentatricopeptide repeat containing

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.96
    Marker Score: 2,631
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.94
    Marker Score: 8,139
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.94
    Marker Score: 2,138
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.92
    Marker Score: 806
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.9
    Marker Score: 1,107
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.89
    Marker Score: 37,672
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.89
    Marker Score: 71,624
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.89
    Marker Score: 7,818
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.86
    Marker Score: 68,760
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.86
    Marker Score: 4,073
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.82
    Marker Score: 7,023
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.8
    Marker Score: 526
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.79
    Marker Score: 110,176
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.79
    Marker Score: 26,706
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.77
    Marker Score: 4,739
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.76
    Marker Score: 2,135
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.76
    Marker Score: 16,556
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.75
    Marker Score: 13,391
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.72
    Marker Score: 17,728
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.71
    Marker Score: 16,293
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.68
    Marker Score: 14,459
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.66
    Marker Score: 1,126
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.6
    Marker Score: 34,072
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.59
    Marker Score: 1,688
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.58
    Marker Score: 1,686
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.58
    Marker Score: 6,428
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.58
    Marker Score: 1,659
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.51
    Marker Score: 436
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.51
    Marker Score: 1,735
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.49
    Marker Score: 1,865
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.48
    Marker Score: 2,287
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.47
    Marker Score: 716
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.47
    Marker Score: 1,898
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.44
    Marker Score: 25,643
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.44
    Marker Score: 753
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.44
    Marker Score: 1,274
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.43
    Marker Score: 1,543
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.42
    Marker Score: 5,051
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.42
    Marker Score: 448
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.41
    Marker Score: 3,565
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.4
    Marker Score: 787
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.4
    Marker Score: 2,321
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.4
    Marker Score: 382
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.39
    Marker Score: 693
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.39
    Marker Score: 1,475
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.38
    Marker Score: 807
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.37
    Marker Score: 1,552
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.35
    Marker Score: 2,596
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.35
    Marker Score: 1,164
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.34
    Marker Score: 426
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.34
    Marker Score: 749
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.33
    Marker Score: 1,919
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.33
    Marker Score: 2,358
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.33
    Marker Score: 6,146
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.32
    Marker Score: 1,945
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.32
    Marker Score: 3,125
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.31
    Marker Score: 45,298
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.3
    Marker Score: 1,402
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.29
    Marker Score: 1,227
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.28
    Marker Score: 28,615
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.28
    Marker Score: 3,065
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.28
    Marker Score: 1,107
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.27
    Marker Score: 2,902
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.27
    Marker Score: 7,522
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.25
    Marker Score: 656
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.23
    Marker Score: 1,743
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.22
    Marker Score: 1,125
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.22
    Marker Score: 460
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.22
    Marker Score: 456
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.22
    Marker Score: 385
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.21
    Marker Score: 839
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.21
    Marker Score: 411
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.21
    Marker Score: 766
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.2
    Marker Score: 40,570
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.2
    Marker Score: 346
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.19
    Marker Score: 1,211
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.19
    Marker Score: 1,202
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.19
    Marker Score: 1,262
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.19
    Marker Score: 918
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.18
    Marker Score: 807
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.18
    Marker Score: 410
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.18
    Marker Score: 2,492
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.17
    Marker Score: 732
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.17
    Marker Score: 799
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.15
    Marker Score: 608
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.15
    Marker Score: 2,877
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.15
    Marker Score: 5,628
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.15
    Marker Score: 464
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.14
    Marker Score: 681
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.14
    Marker Score: 421
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.13
    Marker Score: 4,190
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.13
    Marker Score: 754
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.12
    Marker Score: 263
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.12
    Marker Score: 3,037
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.11
    Marker Score: 1,157
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.11
    Marker Score: 37,789
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.11
    Marker Score: 4,611
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.1
    Marker Score: 824
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.09
    Marker Score: 2,286
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.09
    Marker Score: 410

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** LRPPRC is a mitochondrial protein that is involved in several key cellular processes, including: 1. **Mitochondrial function**: LRPPRC is localized to the mitochondrial matrix and nucleoid, where it regulates mitochondrial RNA (mtRNA) catabolism and translation. 2. **Cytoskeleton organization**: LPPRC contains PPRs that bind to actin filaments and microtubules, suggesting a role in cytoskeleton organization and dynamics. 3. **Gene expression regulation**: LRPPRC regulates gene expression by binding to RNA and influencing transcriptional processes, including those mediated by RNA polymerase II. 4. **Cellular responses to stress**: LRPPRC is involved in cellular responses to chemical and physical stress, including the regulation of heat production by uncoupling proteins. **Pathways and Functions** LRPPRC is involved in several key pathways, including: 1. **Mitochondrial RNA catabolism**: LRPPRC regulates the degradation of mtRNA, which is essential for mitochondrial function and energy production. 2. **Cytoskeleton organization**: LPPRC's PPRs bind to actin filaments and microtubules, influencing cytoskeleton organization and dynamics. 3. **Gene expression regulation**: LRPPRC regulates gene expression by binding to RNA and influencing transcriptional processes. 4. **Cellular responses to stress**: LRPPRC is involved in cellular responses to chemical and physical stress, including the regulation of heat production by uncoupling proteins. **Clinical Significance** LRPPRC is significantly expressed in cells of the eye, brain, and other tissues, and its expression is altered in certain disease states, including: 1. **Retinal degeneration**: LRPPRC is expressed in retinal ganglion cells, and its expression is altered in retinal degeneration diseases, such as glaucoma and age-related macular degeneration. 2. **Neurodegenerative diseases**: LRPPRC is expressed in neurons, and its expression is altered in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 3. **Cancer**: LRPPRC is expressed in various cancer types, including melanoma and glioblastoma, and its expression is altered in certain cancer subtypes. 4. **Mitochondrial disorders**: LRPPRC is involved in mitochondrial function, and its dysfunction has been implicated in mitochondrial disorders, such as Kearns-Sayre syndrome and MELAS syndrome. In conclusion, LRPPRC is a multifunctional protein that plays a critical role in various cellular processes, including mitochondrial function, cytoskeleton organization, and gene expression regulation. Its expression is significantly altered in certain disease states, including retinal degeneration, neurodegenerative diseases, cancer, and mitochondrial disorders. Further research is needed to fully understand the functions and clinical significance of LRPPRC.

Genular Protein ID: 2597634920

Symbol: LPPRC_HUMAN

Name: Leucine-rich PPR motif-containing protein, mitochondrial

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15139850

Title: 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

DOI: 10.1042/bj20040469

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8012652

Title: Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2).

PubMed ID: 8012652

DOI: 10.1007/bf02631402

PubMed ID: 11585913

Title: Distinct RNP complexes of shuttling hnRNP proteins with pre-mRNA and mRNA: candidate intermediates in formation and export of mRNA.

PubMed ID: 11585913

DOI: 10.1128/mcb.21.21.7307-7319.2001

PubMed ID: 11827465

Title: 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

DOI: 10.1006/geno.2001.6679

PubMed ID: 12832482

Title: LRP130, a pentatricopeptide motif protein with a noncanonical RNA-binding domain, is bound in vivo to mitochondrial and nuclear RNAs.

PubMed ID: 12832482

DOI: 10.1128/mcb.23.14.4972-4982.2003

PubMed ID: 15081402

Title: LRP130, a single-stranded DNA/RNA-binding protein, localizes at the outer nuclear and endoplasmic reticulum membrane, and interacts with mRNA in vivo.

PubMed ID: 15081402

DOI: 10.1016/j.bbrc.2004.03.103

PubMed ID: 15272088

Title: New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 protein.

PubMed ID: 15272088

DOI: 10.1093/nar/gkh722

PubMed ID: 15907802

Title: Putative tumor suppressor RASSF1 interactive protein and cell death inducer C19ORF5 is a DNA binding protein.

PubMed ID: 15907802

DOI: 10.1016/j.bbrc.2005.05.006

PubMed ID: 17050673

Title: Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex.

PubMed ID: 17050673

DOI: 10.1101/gad.1483906

PubMed ID: 19262567

Title: Molecular dissection of the eukaryotic initiation factor 4E (eIF4E) export-competent RNP.

PubMed ID: 19262567

DOI: 10.1038/emboj.2009.53

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28325843

Title: A biochemical framework for eIF4E-dependent mRNA export and nuclear recycling of the export machinery.

PubMed ID: 28325843

DOI: 10.1261/rna.060137.116

PubMed ID: 12529507

Title: Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

PubMed ID: 12529507

DOI: 10.1073/pnas.242716699

PubMed ID: 26510951

Title: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

PubMed ID: 26510951

DOI: 10.1093/brain/awv291

Sequence Information:

  • Length: 1394
  • Mass: 157905
  • Checksum: 61AB0C8BF8A972E6
  • Sequence:
  • MAALLRSARW LLRAGAAPRL PLSLRLLPGG PGRLHAASYL PAARAGPVAG GLLSPARLYA 
    IAAKEKDIQE ESTFSSRKIS NQFDWALMRL DLSVRRTGRI PKKLLQKVFN DTCRSGGLGG 
    SHALLLLRSC GSLLPELKLE ERTEFAHRIW DTLQKLGAVY DVSHYNALLK VYLQNEYKFS 
    PTDFLAKMEE ANIQPNRVTY QRLIASYCNV GDIEGASKIL GFMKTKDLPV TEAVFSALVT 
    GHARAGDMEN AENILTVMRD AGIEPGPDTY LALLNAYAEK GDIDHVKQTL EKVEKSELHL 
    MDRDLLQIIF SFSKAGYPQY VSEILEKVTC ERRYIPDAMN LILLLVTEKL EDVALQILLA 
    CPVSKEDGPS VFGSFFLQHC VTMNTPVEKL TDYCKKLKEV QMHSFPLQFT LHCALLANKT 
    DLAKALMKAV KEEGFPIRPH YFWPLLVGRR KEKNVQGIIE ILKGMQELGV HPDQETYTDY 
    VIPCFDSVNS ARAILQENGC LSDSDMFSQA GLRSEAANGN LDFVLSFLKS NTLPISLQSI 
    RSSLLLGFRR SMNINLWSEI TELLYKDGRY CQEPRGPTEA VGYFLYNLID SMSDSEVQAK 
    EEHLRQYFHQ LEKMNVKIPE NIYRGIRNLL ESYHVPELIK DAHLLVESKN LDFQKTVQLT 
    SSELESTLET LKAENQPIRD VLKQLILVLC SEENMQKALE LKAKYESDMV TGGYAALINL 
    CCRHDKVEDA LNLKEEFDRL DSSAVLDTGK YVGLVRVLAK HGKLQDAINI LKEMKEKDVL 
    IKDTTALSFF HMLNGAALRG EIETVKQLHE AIVTLGLAEP STNISFPLVT VHLEKGDLST 
    ALEVAIDCYE KYKVLPRIHD VLCKLVEKGE TDLIQKAMDF VSQEQGEMVM LYDLFFAFLQ 
    TGNYKEAKKI IETPGIRARS ARLQWFCDRC VANNQVETLE KLVELTQKLF ECDRDQMYYN 
    LLKLYKINGD WQRADAVWNK IQEENVIPRE KTLRLLAEIL REGNQEVPFD VPELWYEDEK 
    HSLNSSSAST TEPDFQKDIL IACRLNQKKG AYDIFLNAKE QNIVFNAETY SNLIKLLMSE 
    DYFTQAMEVK AFAETHIKGF TLNDAANSRL IITQVRRDYL KEAVTTLKTV LDQQQTPSRL 
    AVTRVIQALA MKGDVENIEV VQKMLNGLED SIGLSKMVFI NNIALAQIKN NNIDAAIENI 
    ENMLTSENKV IEPQYFGLAY LFRKVIEEQL EPAVEKISIM AERLANQFAI YKPVTDFFLQ 
    LVDAGKVDDA RALLQRCGAI AEQTPILLLF LLRNSRKQGK ASTVKSVLEL IPELNEKEEA 
    YNSLMKSYVS EKDVTSAKAL YEHLTAKNTK LDDLFLKRYA SLLKYAGEPV PFIEPPESFE 
    FYAQQLRKLR ENSS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.