Format

Send to:

Choose Destination

PRPF3 pre-mRNA processing factor 3 [ Homo sapiens (human) ]

Gene ID: 9129, updated on 1-Aug-2020

Summary

Official Symbol
PRPF3provided by HGNC
Official Full Name
pre-mRNA processing factor 3provided by HGNC
Primary source
HGNC:HGNC:17348
See related
Ensembl:ENSG00000117360 MIM:607301
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
PRP3; RP18; HPRP3; Prp3p; HPRP3P; SNRNP90
Summary
The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 15.4), endometrium (RPKM 11.5) and 25 other tissues See more
Orthologs

Genomic context

See PRPF3 in Genome Data Viewer
Location:
1q21.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150321468..150353233)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150293928..150325704)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371434 Neighboring gene mitochondrial ribosomal protein S21 Neighboring gene regulation of nuclear pre-mRNA domain containing 2 Neighboring gene microRNA 6878 Neighboring gene threonyl-tRNA synthetase 2, mitochondrial

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

Associated conditions

Description Tests
Retinitis pigmentosa 18 Compare labs

NHGRI GWAS Catalog

Description
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing TAS
Traceable Author Statement
more info
PubMed 
RNA splicing, via transesterification reactions TAS
Traceable Author Statement
more info
PubMed 
mRNA processing TAS
Traceable Author Statement
more info
PubMed 
mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
mRNA splicing, via spliceosome NAS
Non-traceable Author Statement
more info
PubMed 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
spliceosomal tri-snRNP complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
U4/U6 x U5 tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
U4/U6 x U5 tri-snRNP complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spliceosomal complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
U4/U6 small nuclear ribonucleoprotein Prp3
Names
PRP3 pre-mRNA processing factor 3 homolog
U4/U6 snRNP 90 kDa protein
U4/U6-associated RNA splicing factor
pre-mRNA-splicing factor 3

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.

Genomic

  1. NG_008245.1 RefSeqGene

    Range
    5055..36782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350529.1NP_001337458.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AF016370, BQ002848, DA920350, DC337198
    Conserved Domains (2) summary
    pfam06544
    Location:411538
    DUF1115; Protein of unknown function (DUF1115)
    pfam08572
    Location:174386
    PRP3; pre-mRNA processing factor 3 (PRP3)
  2. NM_004698.4NP_004689.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1

    See identical proteins and their annotated locations for NP_004689.1

    Status: REVIEWED

    Source sequence(s)
    AF016370, AL611942, BQ002848, DC407158
    Consensus CDS
    CCDS951.1
    UniProtKB/Swiss-Prot
    O43395
    Related
    ENSP00000315379.6, ENST00000324862.7
    Conserved Domains (3) summary
    smart00311
    Location:373
    PWI; domain in splicing factors
    pfam06544
    Location:546673
    DUF1115; Protein of unknown function (DUF1115)
    pfam08572
    Location:309521
    PRP3; pre-mRNA processing factor 3 (PRP3)

RNA

  1. NR_146766.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF016370, BG740159, BQ002848, DC337198, DC407158
  2. NR_146767.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF016370, BG740159, BQ002848, BQ932459, DC337198
  3. NR_146768.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA806093, AF016370, BM799783, BQ002848, CX871870, DC337198
  4. NR_146769.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA806093, AF016370, BG740159, BM799783, BQ002848, CX871870, DC337198

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    150321468..150353233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002791.2XP_016858280.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform X4

  2. XM_011510132.3XP_011508434.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform X3

    Conserved Domains (2) summary
    smart00311
    Location:373
    PWI; PWI, domain in splicing factors
    pfam08572
    Location:309398
    PRP3; pre-mRNA processing factor 3 (PRP3)
  3. XM_011510131.3XP_011508433.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform X2

    Conserved Domains (2) summary
    smart00311
    Location:373
    PWI; PWI, domain in splicing factors
    pfam08572
    Location:309427
    PRP3; pre-mRNA processing factor 3 (PRP3)
  4. XM_017002790.1XP_016858279.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform X1

    Conserved Domains (2) summary
    pfam06544
    Location:402529
    DUF1115; Protein of unknown function (DUF1115)
    pfam08572
    Location:165377
    PRP3; pre-mRNA processing factor 3 (PRP3)
  5. XM_011510130.3XP_011508432.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform X1

    Conserved Domains (2) summary
    pfam06544
    Location:402529
    DUF1115; Protein of unknown function (DUF1115)
    pfam08572
    Location:165377
    PRP3; pre-mRNA processing factor 3 (PRP3)

RNA

  1. XR_002958010.1 RNA Sequence

  2. XR_001737536.2 RNA Sequence

  3. XR_921997.3 RNA Sequence

  4. XR_001737537.2 RNA Sequence

  5. XR_241103.3 RNA Sequence

  6. XR_002958012.1 RNA Sequence

  7. XR_921998.3 RNA Sequence

  8. XR_001737541.2 RNA Sequence

  9. XR_002958009.1 RNA Sequence

  10. XR_001737540.2 RNA Sequence

Support Center