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

Gene ID: 8559, updated on 12-Oct-2019

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
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

Genomic context

See PRPF18 in Genome Data Viewer
Location:
10p13
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (13586811..13645344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13628939..13672868)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BEN domain containing 7 Neighboring gene uncharacterized LOC105376421 Neighboring gene uncharacterized LOC105376422 Neighboring gene ribosomal protein L6 pseudogene 24 Neighboring gene uncharacterized LOC105376426 Neighboring gene FERM domain containing 4A Neighboring gene RNA, 5S ribosomal pseudogene 301 Neighboring gene nuclear transport factor 2 pseudogene 5

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Spliceosome, organism-specific biosystem (from KEGG)
    Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
  • Spliceosome, conserved biosystem (from KEGG)
    Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
  • mRNA Processing, organism-specific biosystem (from WikiPathways)
    mRNA Processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10210

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to second spliceosomal transesterification activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
RNA splicing TAS
Traceable Author Statement
more info
PubMed 
generation of catalytic spliceosome for second transesterification step IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA processing TAS
Traceable Author Statement
more info
PubMed 
nuclear retention of unspliced pre-mRNA at the site of transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
U2-type post-spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
U4/U6 x U5 tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
U5 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
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)

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_003675.4NP_003666.1  pre-mRNA-splicing factor 18

    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
    Q99633
    Related
    ENSP00000367835.3, ENST00000378572.8
    Conserved Domains (2) summary
    smart00500
    Location:79122
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    pfam02840
    Location:195331
    Prp18; Prp18 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    13586811..13645344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016860.2XP_016872349.1  pre-mRNA-splicing factor 18 isoform X2

  2. XM_011519754.3XP_011518056.1  pre-mRNA-splicing factor 18 isoform X1

    See identical proteins and their annotated locations for XP_011518056.1

    Conserved Domains (2) summary
    smart00500
    Location:64107
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    pfam02840
    Location:176313
    Prp18; Prp18 domain

RNA

  1. XR_001747251.2 RNA Sequence

  2. XR_002957037.1 RNA Sequence

  3. XR_001747250.1 RNA Sequence

  4. XR_001747249.1 RNA Sequence

  5. XR_002957038.1 RNA Sequence

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