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    PRPF18 pre-mRNA processing factor 18 [ Homo sapiens (human) ]

    Gene ID: 8559, updated on 27-Nov-2024

    Summary

    Official Symbol
    PRPF18provided by HGNC
    Official Full Name
    pre-mRNA processing factor 18provided by HGNC
    Primary source
    HGNC:HGNC:17351
    See related
    Ensembl:ENSG00000165630 MIM:604993; AllianceGenome:HGNC:17351
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRP18; hPrp18
    Summary
    Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 3.4), brain (RPKM 3.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRPF18 in Genome Data Viewer
    Location:
    10p13
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13586965..13655929)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (13599966..13668950)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13628965..13697929)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BEN domain containing 7 Neighboring gene uncharacterized LOC105376422 Neighboring gene BEND7 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13629435-13630030 Neighboring gene ribosomal protein L6 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13715567-13716091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2156 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13732519-13733075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2157 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13749502-13750237 Neighboring gene uncharacterized LOC124902379 Neighboring gene uncharacterized LOC105376426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13753704-13754570 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:13754571-13755435 Neighboring gene FERM domain containing 4A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2158 Neighboring gene RNA, 5S ribosomal pseudogene 301

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    EBI GWAS Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10210, FLJ30455, FLJ42487, FLJ43137, DKFZp434L162, DKFZp686H1792

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in generation of catalytic spliceosome for second transesterification step IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of U2-type post-spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of U5 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of spliceosomal complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    pre-mRNA-splicing factor 18
    Names
    PRP18 homolog
    PRP18 pre-mRNA processing factor 18 homolog
    PRP18 pre-mRNA processing factor 18 homolog(PRPF18)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001395875.1NP_001382804.1  pre-mRNA-splicing factor 18 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
      Conserved Domains (2) summary
      smart00500
      Location:88131
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
      pfam02840
      Location:200336
      Prp18; Prp18 domain
    2. NM_001395876.1NP_001382805.1  pre-mRNA-splicing factor 18 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
      Conserved Domains (2) summary
      smart00500
      Location:73116
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
      pfam02840
      Location:185321
      Prp18; Prp18 domain
    3. NM_001395877.1NP_001382806.1  pre-mRNA-splicing factor 18 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
      Conserved Domains (1) summary
      smart00500
      Location:79122
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    4. NM_001395878.1NP_001382807.1  pre-mRNA-splicing factor 18 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
      Conserved Domains (2) summary
      smart00500
      Location:64107
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
      pfam02840
      Location:176312
      Prp18; Prp18 domain
    5. NM_001395879.1NP_001382808.1  pre-mRNA-splicing factor 18 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
      Conserved Domains (1) summary
      smart00500
      Location:79122
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    6. NM_001395880.1NP_001382809.1  pre-mRNA-splicing factor 18 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
      Conserved Domains (1) summary
      smart00500
      Location:88131
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    7. NM_001395881.1NP_001382810.1  pre-mRNA-splicing factor 18 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
      Conserved Domains (2) summary
      smart00500
      Location:79122
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
      pfam02840
      Location:193280
      Prp18; Prp18 domain
    8. NM_001395882.1NP_001382811.1  pre-mRNA-splicing factor 18 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL157392
      UniProtKB/TrEMBL
      B2RBU0
    9. NM_001395883.1NP_001382812.1  pre-mRNA-splicing factor 18 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL157392
      Conserved Domains (1) summary
      smart00500
      Location:73116
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    10. NM_001395884.1NP_001382813.1  pre-mRNA-splicing factor 18 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL157392
      Conserved Domains (1) summary
      smart00500
      Location:79122
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    11. NM_001395885.1NP_001382814.1  pre-mRNA-splicing factor 18 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL157392
      Conserved Domains (1) summary
      smart00500
      Location:346
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    12. NM_001395886.1NP_001382815.1  pre-mRNA-splicing factor 18 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL157392
      Conserved Domains (1) summary
      smart00500
      Location:346
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    13. NM_001395887.1NP_001382816.1  pre-mRNA-splicing factor 18 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL157392
      Conserved Domains (1) summary
      smart00500
      Location:64107
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
    14. NM_003675.4NP_003666.1  pre-mRNA-splicing factor 18 isoform 2

      See identical proteins and their annotated locations for NP_003666.1

      Status: REVIEWED

      Source sequence(s)
      AI580379, AL157392, AU142253, BC000794, BC002572
      Consensus CDS
      CCDS7100.1
      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
      UniProtKB/TrEMBL
      B2RBU0
      Related
      ENSP00000367835.3, ENST00000378572.8
      Conserved Domains (2) summary
      smart00500
      Location:79122
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
      pfam02840
      Location:191327
      Prp18; Prp18 domain

    RNA

    1. NR_172904.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL157392
    2. NR_172905.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL157392
    3. NR_172906.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL157392

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      13586965..13655929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425923.1XP_047281879.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    2. XM_047425933.1XP_047281889.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    3. XM_047425943.1XP_047281899.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    4. XM_047425938.1XP_047281894.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    5. XM_047425944.1XP_047281900.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    6. XM_047425947.1XP_047281903.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    7. XM_047425949.1XP_047281905.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    8. XM_047425926.1XP_047281882.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    9. XM_047425936.1XP_047281892.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    10. XM_047425929.1XP_047281885.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    11. XM_047425934.1XP_047281890.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    12. XM_047425927.1XP_047281883.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    13. XM_047425940.1XP_047281896.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    14. XM_047425946.1XP_047281902.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    15. XM_047425948.1XP_047281904.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    16. XM_047425950.1XP_047281906.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    17. XM_047425953.1XP_047281909.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    18. XM_047425931.1XP_047281887.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    19. XM_047425932.1XP_047281888.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    20. XM_047425939.1XP_047281895.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    21. XM_047425945.1XP_047281901.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    22. XM_047425935.1XP_047281891.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    23. XM_047425957.1XP_047281913.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    24. XM_047425959.1XP_047281915.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    25. XM_047425928.1XP_047281884.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    26. XM_047425930.1XP_047281886.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    27. XM_047425942.1XP_047281898.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    28. XM_047425937.1XP_047281893.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    29. XM_047425951.1XP_047281907.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    30. XM_047425958.1XP_047281914.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    31. XM_047425954.1XP_047281910.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    32. XM_047425961.1XP_047281917.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    33. XM_047425960.1XP_047281916.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    34. XM_047425955.1XP_047281911.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    35. XM_047425962.1XP_047281918.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    36. XM_047425924.1XP_047281880.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    37. XM_047425925.1XP_047281881.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    38. XM_047425952.1XP_047281908.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    39. XM_047425964.1XP_047281920.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    40. XM_047425941.1XP_047281897.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    41. XM_047425956.1XP_047281912.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    42. XM_047425963.1XP_047281919.1  pre-mRNA-splicing factor 18 isoform X2

      UniProtKB/Swiss-Prot
      Q5T9P9, Q99633, Q9BUI9
    43. XM_047425966.1XP_047281922.1  pre-mRNA-splicing factor 18 isoform X4

    44. XM_047425965.1XP_047281921.1  pre-mRNA-splicing factor 18 isoform X3

    45. XM_047425967.1XP_047281923.1  pre-mRNA-splicing factor 18 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      13599966..13668950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367056.1XP_054223031.1  pre-mRNA-splicing factor 18 isoform X1