Details for: PRPF6

Gene ID: 24148

Symbol: PRPF6

Ensembl ID: ENSG00000101161

Description: pre-mRNA processing factor 6

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: oogonial cell (CL0000024)
    Fold Change: 1.93
    Marker Score: 2,770
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.75
    Marker Score: 20,341
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.72
    Marker Score: 496
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.67
    Marker Score: 12,449
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.61
    Marker Score: 2,017
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.56
    Marker Score: 13,589
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.54
    Marker Score: 811
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.52
    Marker Score: 1,103
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.51
    Marker Score: 5,573
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.5
    Marker Score: 3,162
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.45
    Marker Score: 3,026
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.45
    Marker Score: 2,134
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.45
    Marker Score: 505
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.44
    Marker Score: 1,915
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.41
    Marker Score: 12,417
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.41
    Marker Score: 5,532
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.4
    Marker Score: 418
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 1.39
    Marker Score: 696
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.39
    Marker Score: 929
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.39
    Marker Score: 2,275
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.38
    Marker Score: 1,547
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.38
    Marker Score: 7,236
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.36
    Marker Score: 3,110
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.36
    Marker Score: 1,643
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.35
    Marker Score: 1,429
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.35
    Marker Score: 1,431
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.34
    Marker Score: 2,283
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.34
    Marker Score: 1,728
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.34
    Marker Score: 2,620
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.33
    Marker Score: 1,223
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.33
    Marker Score: 731
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.32
    Marker Score: 425
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.32
    Marker Score: 1,036
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.32
    Marker Score: 3,593
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.31
    Marker Score: 1,323
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.31
    Marker Score: 313
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.3
    Marker Score: 14,659
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.29
    Marker Score: 2,458
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.28
    Marker Score: 8,323
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.27
    Marker Score: 1,322
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.27
    Marker Score: 2,255
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.27
    Marker Score: 1,371
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 1.27
    Marker Score: 393
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.26
    Marker Score: 1,350
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.25
    Marker Score: 294
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.25
    Marker Score: 912
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.25
    Marker Score: 1,043
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.25
    Marker Score: 4,292
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.24
    Marker Score: 577
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.22
    Marker Score: 7,264
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.22
    Marker Score: 1,286
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.22
    Marker Score: 427
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.22
    Marker Score: 301
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 1.21
    Marker Score: 1,174
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.21
    Marker Score: 279
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.21
    Marker Score: 584
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.21
    Marker Score: 2,274
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.21
    Marker Score: 819
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.2
    Marker Score: 12,084
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.2
    Marker Score: 4,905
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.2
    Marker Score: 1,611
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.19
    Marker Score: 3,404
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 1.19
    Marker Score: 501
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.19
    Marker Score: 797
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.19
    Marker Score: 293
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.18
    Marker Score: 1,113
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.18
    Marker Score: 12,206
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.18
    Marker Score: 894
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.17
    Marker Score: 281
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 1.17
    Marker Score: 1,268
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.16
    Marker Score: 7,079
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 1.16
    Marker Score: 1,123
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 1.16
    Marker Score: 568
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 1.16
    Marker Score: 531
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 1.16
    Marker Score: 2,068
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.16
    Marker Score: 471
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.15
    Marker Score: 2,716
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.14
    Marker Score: 1,620
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.14
    Marker Score: 39,519
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 1.14
    Marker Score: 1,143
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.14
    Marker Score: 11,519
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.13
    Marker Score: 14,923
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.13
    Marker Score: 380
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.13
    Marker Score: 846
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.13
    Marker Score: 1,061
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.12
    Marker Score: 766
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.12
    Marker Score: 687
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.12
    Marker Score: 3,039
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.12
    Marker Score: 2,232
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.12
    Marker Score: 4,819
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.12
    Marker Score: 322
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.11
    Marker Score: 529
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.11
    Marker Score: 592
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.11
    Marker Score: 705
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.11
    Marker Score: 68,280
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.1
    Marker Score: 10,484
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.1
    Marker Score: 752
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.1
    Marker Score: 474
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.1
    Marker Score: 4,703
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.09
    Marker Score: 9,381

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:** PRPF6 is a highly conserved protein across species, with high sequence identity among vertebrates. It belongs to the pre-mRNA processing factor family, which is essential for the proper maturation of pre-mRNA. PRPF6 exhibits a unique structure, consisting of two distinct domains: a C-terminal domain that interacts with the U4/U6.U5 tri-snRNP complex and an N-terminal domain that binds to the U2-type precatalytic spliceosome. This dual functionality allows PRPF6 to bridge the U4/U6.U5 and U2-type spliceosomes, facilitating the assembly of the spliceosome complex. **Pathways and Functions:** PRPF6 is involved in several key pathways, including: 1. **Catalytic step 2 spliceosome**: PRPF6 facilitates the catalytic step of splicing via transesterification reactions, ensuring the accurate processing of pre-mRNA into mature mRNA. 2. **RNA localization**: PRPF6 regulates the localization of RNA molecules, particularly in the context of alternative splicing and pre-mRNA maturation. 3. **Protein binding**: PRPF6 binds to various proteins, including other pre-mRNA processing factors, ribonucleoprotein complexes, and transcription factors, to regulate RNA processing and transcription. 4. **Metabolism of RNA**: PRPF6 is involved in the regulation of RNA metabolism, including RNA degradation and transport. **Clinical Significance:** PRPF6 is significantly expressed in various cell types, including oogonial cells, blood cells, male germ cells, and hematopoietic stem cells. Abnormal expression or mutations in PRPF6 have been linked to several diseases, including: 1. **Cancer**: PRPF6 has been implicated in the regulation of alternative splicing in cancer cells, leading to the development of cancer-specific isoforms. 2. **Neurological disorders**: PRPF6 has been linked to neurological disorders, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), where aberrant RNA processing contributes to disease pathology. 3. **Immunological disorders**: PRPF6 has been implicated in immunological disorders, such as rheumatoid arthritis and multiple sclerosis, where dysregulated RNA processing contributes to disease pathology. In conclusion, PRPF6 is a crucial protein that plays a pivotal role in RNA processing, particularly in the context of alternative splicing and pre-mRNA maturation. Its dysregulation or mutations have been linked to various diseases, highlighting the importance of PRPF6 in maintaining genome stability and promoting healthy cellular function. Further research is needed to fully elucidate the mechanisms of PRPF6 and its role in disease pathology.

Genular Protein ID: 986103776

Symbol: PRP6_HUMAN

Name: Pre-mRNA-processing factor 6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10561546

Title: A novel mammalian nuclear protein similar to Schizosaccharomyces pombe Prp1p/Zer1p and Saccharomyces cerevisiae Prp6p pre-mRNA splicing factors.

PubMed ID: 10561546

DOI: 10.1016/s0167-4838(99)00203-4

PubMed ID: 10788320

Title: The human homologue of the yeast splicing factor Prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions.

PubMed ID: 10788320

DOI: 10.1006/jmbi.2000.3685

PubMed ID: 10848612

Title: Isoform-specific localization of A-RAF in mitochondria.

PubMed ID: 10848612

DOI: 10.1128/mcb.20.13.4870-4878.2000

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12039962

Title: Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor.

PubMed ID: 12039962

DOI: 10.1074/jbc.m203811200

PubMed ID: 11991638

Title: Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.

PubMed ID: 11991638

DOI: 10.1017/s1355838202021088

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: 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: 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: 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: 34023904

Title: SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.

PubMed ID: 34023904

DOI: 10.1093/nar/gkab386

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: 21549338

Title: A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

PubMed ID: 21549338

DOI: 10.1016/j.ajhg.2011.04.008

PubMed ID: 22235333

Title: Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

PubMed ID: 22235333

DOI: 10.1371/journal.pone.0029729

Sequence Information:

  • Length: 941
  • Mass: 106925
  • Checksum: 91C2F1ADCA439BE9
  • Sequence:
  • MNKKKKPFLG MPAPLGYVPG LGRGATGFTT RSDIGPARDA NDPVDDRHAP PGKRTVGDQM 
    KKNQAADDDD EDLNDTNYDE FNGYAGSLFS SGPYEKDDEE ADAIYAALDK RMDERRKERR 
    EQREKEEIEK YRMERPKIQQ QFSDLKRKLA EVTEEEWLSI PEVGDARNKR QRNPRYEKLT 
    PVPDSFFAKH LQTGENHTSV DPRQTQFGGL NTPYPGGLNT PYPGGMTPGL MTPGTGELDM 
    RKIGQARNTL MDMRLSQVSD SVSGQTVVDP KGYLTDLNSM IPTHGGDIND IKKARLLLKS 
    VRETNPHHPP AWIASARLEE VTGKLQVARN LIMKGTEMCP KSEDVWLEAA RLQPGDTAKA 
    VVAQAVRHLP QSVRIYIRAA ELETDIRAKK RVLRKALEHV PNSVRLWKAA VELEEPEDAR 
    IMLSRAVECC PTSVELWLAL ARLETYENAR KVLNKARENI PTDRHIWITA AKLEEANGNT 
    QMVEKIIDRA ITSLRANGVE INREQWIQDA EECDRAGSVA TCQAVMRAVI GIGIEEEDRK 
    HTWMEDADSC VAHNALECAR AIYAYALQVF PSKKSVWLRA AYFEKNHGTR ESLEALLQRA 
    VAHCPKAEVL WLMGAKSKWL AGDVPAARSI LALAFQANPN SEEIWLAAVK LESENDEYER 
    ARRLLAKARS SAPTARVFMK SVKLEWVQDN IRAAQDLCEE ALRHYEDFPK LWMMKGQIEE 
    QKEMMEKARE AYNQGLKKCP HSTPLWLLLS RLEEKIGQLT RARAILEKSR LKNPKNPGLW 
    LESVRLEYRA GLKNIANTLM AKALQECPNS GILWSEAIFL EARPQRRTKS VDALKKCEHD 
    PHVLLAVAKL FWSQRKITKA REWFHRTVKI DSDLGDAWAF FYKFELQHGT EEQQEEVRKR 
    CESAEPRHGE LWCAVSKDIA NWQKKIGDIL RLVAGRIKNT F

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.