Details for: PRPF3

Gene ID: 9129

Symbol: PRPF3

Ensembl ID: ENSG00000117360

Description: pre-mRNA processing factor 3

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: germ cell (CL0000586)
    Fold Change: 1.96
    Marker Score: 3,431
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.88
    Marker Score: 2,271
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.83
    Marker Score: 2,461
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.73
    Marker Score: 1,381
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.62
    Marker Score: 6,764
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.61
    Marker Score: 784
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.59
    Marker Score: 21,206
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.29
    Marker Score: 1,428
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.28
    Marker Score: 744
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.23
    Marker Score: 718
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.22
    Marker Score: 26,032
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.21
    Marker Score: 355
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.21
    Marker Score: 74,542
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.21
    Marker Score: 11,496
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.15
    Marker Score: 1,023
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.13
    Marker Score: 9,738
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.12
    Marker Score: 10,580
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.12
    Marker Score: 41,224
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.1
    Marker Score: 1,703
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.09
    Marker Score: 2,401
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.05
    Marker Score: 441
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.05
    Marker Score: 39,690
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.03
    Marker Score: 15,393
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.02
    Marker Score: 7,802
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.01
    Marker Score: 4,179
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,691
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,915
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.99
    Marker Score: 3,822
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,394
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.96
    Marker Score: 1,386
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.96
    Marker Score: 305
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.95
    Marker Score: 635
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.95
    Marker Score: 18,852
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,394
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 474
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 430
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,699
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.9
    Marker Score: 1,119
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.89
    Marker Score: 601
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,294
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.86
    Marker Score: 300
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.86
    Marker Score: 391
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.85
    Marker Score: 721
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.85
    Marker Score: 267
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4,815
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.84
    Marker Score: 559
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.84
    Marker Score: 229
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.82
    Marker Score: 889
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.81
    Marker Score: 1,313
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.79
    Marker Score: 2,158
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.79
    Marker Score: 911
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.79
    Marker Score: 269
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 306
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 577
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.75
    Marker Score: 1,450
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.75
    Marker Score: 419
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.73
    Marker Score: 674
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.73
    Marker Score: 1,295
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3,050
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.72
    Marker Score: 268
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.72
    Marker Score: 412
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.72
    Marker Score: 4,278
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.72
    Marker Score: 508
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.72
    Marker Score: 756
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 371
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.72
    Marker Score: 24,362
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.72
    Marker Score: 749
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.71
    Marker Score: 211
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.71
    Marker Score: 884
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.7
    Marker Score: 470
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.7
    Marker Score: 8,144
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.69
    Marker Score: 1,020
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.69
    Marker Score: 261
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.69
    Marker Score: 198
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.68
    Marker Score: 169
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 622
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.68
    Marker Score: 294
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.68
    Marker Score: 276
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.68
    Marker Score: 722
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.68
    Marker Score: 846
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.68
    Marker Score: 462
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.67
    Marker Score: 1,836
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.67
    Marker Score: 231
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.66
    Marker Score: 397
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.66
    Marker Score: 270
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.66
    Marker Score: 509
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.66
    Marker Score: 703
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.66
    Marker Score: 627
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.66
    Marker Score: 434
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.65
    Marker Score: 680
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.65
    Marker Score: 1,942
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.65
    Marker Score: 2,712
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.65
    Marker Score: 357
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.65
    Marker Score: 194
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.65
    Marker Score: 507
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.64
    Marker Score: 359
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.64
    Marker Score: 479
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.64
    Marker Score: 358

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:** 1. **Expression Pattern:** PRPF3 is widely expressed in various cell types, including germ cells, lens epithelial cells, pulmonary interstitial fibroblasts, and cardiac muscle cells, suggesting its importance in multiple cellular processes. 2. **Spliceosomal Component:** PRPF3 is a component of the U4/U6 tri-snRNP complex, which is essential for the recognition and processing of pre-mRNA. 3. **RNA Binding:** PRPF3 exhibits RNA binding properties, enabling its interaction with pre-mRNA and facilitating the assembly of the spliceosomal complex. 4. **Cajal Body Association:** PRPF3 is also associated with Cajal bodies, which are nuclear structures involved in RNA processing and modification. **Pathways and Functions:** 1. **RNA Splicing:** PRPF3 is crucial for the recognition and processing of pre-mRNA, enabling the removal of introns and the joining of exons to form mature mRNA. 2. **Spliceosomal Assembly:** PRPF3 plays a key role in the assembly of the U4/U6 tri-snRNP complex, which is essential for the recognition and processing of pre-mRNA. 3. **Capping and Polyadenylation:** PRPF3 is also involved in the regulation of capping and polyadenylation, two critical steps in RNA processing that influence mRNA stability and translation. 4. **Metabolic Regulation:** PRPF3 has been implicated in the regulation of metabolic pathways, including those involved in energy metabolism and cell growth. **Clinical Significance:** 1. **Disease Association:** Alterations in PRPF3 expression or function have been linked to various diseases, including cancer, neurological disorders, and metabolic disorders. 2. **Cancer Therapy:** PRPF3 has been identified as a potential therapeutic target in cancer treatment, as its dysregulation has been implicated in tumorigenesis and tumor progression. 3. **Neurological Disorders:** PRPF3 has been implicated in the pathogenesis of neurological disorders, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 4. **Metabolic Disorders:** PRPF3 has been linked to metabolic disorders, including type 2 diabetes and obesity, highlighting its role in regulating metabolic pathways. In conclusion, PRPF3 is a critical component of the spliceosomal complex, playing a pivotal role in RNA processing events. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding its functions and significance in cellular biology and disease. Further research into PRPF3 is necessary to elucidate its mechanisms of action and to explore its potential as a therapeutic target in various diseases.

Genular Protein ID: 2305349608

Symbol: PRPF3_HUMAN

Name: U4/U6 small nuclear ribonucleoprotein Prp3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9328476

Title: Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome.

PubMed ID: 9328476

DOI: 10.1093/hmg/6.12.2117

PubMed ID: 9404889

Title: A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs.

PubMed ID: 9404889

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 15314151

Title: Human U4/U6 snRNP recycling factor p110: mutational analysis reveals the function of the tetratricopeptide repeat domain in recycling.

PubMed ID: 15314151

DOI: 10.1128/mcb.24.17.7392-7401.2004

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16723661

Title: The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.

PubMed ID: 16723661

DOI: 10.1261/rna.55406

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18318008

Title: Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.

PubMed ID: 18318008

DOI: 10.1002/pmic.200700884

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20595234

Title: The Prp19 complex and the Usp4Sart3 deubiquitinating enzyme control reversible ubiquitination at the spliceosome.

PubMed ID: 20595234

DOI: 10.1101/gad.1925010

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

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: 26030138

Title: Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.

PubMed ID: 26030138

DOI: 10.1371/journal.pone.0128558

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 26912367

Title: Molecular architecture of the human U4/U6.U5 tri-snRNP.

PubMed ID: 26912367

DOI: 10.1126/science.aad2085

PubMed ID: 28781166

Title: Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for Activation.

PubMed ID: 28781166

DOI: 10.1016/j.cell.2017.07.011

PubMed ID: 11773002

Title: Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

PubMed ID: 11773002

DOI: 10.1093/hmg/11.1.87

PubMed ID: 12714658

Title: Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

PubMed ID: 12714658

DOI: 10.1167/iovs.02-0871

PubMed ID: 17932117

Title: Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.

PubMed ID: 17932117

DOI: 10.1093/hmg/ddm300

Sequence Information:

  • Length: 683
  • Mass: 77529
  • Checksum: 4AA6AA4C99110284
  • Sequence:
  • MALSKRELDE LKPWIEKTVK RVLGFSEPTV VTAALNCVGK GMDKKKAADH LKPFLDDSTL 
    RFVDKLFEAV EEGRSSRHSK SSSDRSRKRE LKEVFGDDSE ISKESSGVKK RRIPRFEEVE 
    EEPEVIPGPP SESPGMLTKL QIKQMMEAAT RQIEERKKQL SFISPPTPQP KTPSSSQPER 
    LPIGNTIQPS QAATFMNDAI EKARKAAELQ ARIQAQLALK PGLIGNANMV GLANLHAMGI 
    APPKVELKDQ TKPTPLILDE QGRTVDATGK EIELTHRMPT LKANIRAVKR EQFKQQLKEK 
    PSEDMESNTF FDPRVSIAPS QRQRRTFKFH DKGKFEKIAQ RLRTKAQLEK LQAEISQAAR 
    KTGIHTSTRL ALIAPKKELK EGDIPEIEWW DSYIIPNGFD LTEENPKRED YFGITNLVEH 
    PAQLNPPVDN DTPVTLGVYL TKKEQKKLRR QTRREAQKEL QEKVRLGLMP PPEPKVRISN 
    LMRVLGTEAV QDPTKVEAHV RAQMAKRQKA HEEANAARKL TAEQRKVKKI KKLKEDISQG 
    VHISVYRVRN LSNPAKKFKI EANAGQLYLT GVVVLHKDVN VVVVEGGPKA QKKFKRLMLH 
    RIKWDEQTSN TKGDDDEESD EEAVKKTNKC VLVWEGTAKD RSFGEMKFKQ CPTENMAREH 
    FKKHGAEHYW DLALSESVLE STD

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.