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PRPF4 pre-mRNA splicing tri-snRNP complex factor PRPF4 [ Homo sapiens (human) ]

Gene ID: 9128, updated on 10-Dec-2024

Summary

Official Symbol
PRPF4provided by HGNC
Official Full Name
pre-mRNA splicing tri-snRNP complex factor PRPF4provided by HGNC
Primary source
HGNC:HGNC:17349
See related
Ensembl:ENSG00000136875 MIM:607795; AllianceGenome:HGNC:17349
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
PRP4; RP70; HPRP4; Prp4p; HPRP4P; SNRNP60
Summary
The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
Expression
Ubiquitous expression in appendix (RPKM 8.9), kidney (RPKM 8.4) and 25 other tissues See more
Orthologs
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Genomic context

See PRPF4 in Genome Data Viewer
Location:
9q32
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113275658..113292905)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125474498..125491706)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116037938..116055185)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 31 member 1 Neighboring gene uncharacterized LOC107987119 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116036963-116037818 Neighboring gene cell division cycle 26 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106320 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106329 Neighboring gene ring finger protein 183 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106330 Neighboring gene WD repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20198

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables U4 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables U6 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
part_of U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of U4/U6 snRNP IDA
Inferred from Direct Assay
more info
PubMed 
part_of U4/U6 x U5 tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of U4/U6 x U5 tri-snRNP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of U4/U6 x U5 tri-snRNP complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
part_of spliceosomal complex IC
Inferred by Curator
more info
PubMed 
part_of spliceosomal complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of spliceosomal snRNP complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
U4/U6 small nuclear ribonucleoprotein Prp4
Names
PRP4 homolog
PRP4 pre-mRNA processing factor 4 homolog
PRP4/STK/WD splicing factor
U4/U6 snRNP 60 kDa protein
WD splicing factor Prp4
pre-mRNA processing factor 4

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.

Genomic

  1. NG_034225.1 RefSeqGene

    Range
    5025..22272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001244926.2NP_001231855.1  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 2

    See identical proteins and their annotated locations for NP_001231855.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AW052006, BC001588, BC007424, CA420073, DA815191
    Consensus CDS
    CCDS59142.1
    UniProtKB/TrEMBL
    B2R7V4, Q5T1M7, Q6IAP9
    Related
    ENSP00000363313.4, ENST00000374198.5
    Conserved Domains (3) summary
    smart00500
    Location:102140
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    cd00200
    Location:232518
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:233270
    7WD40; WD40 repeat [structural motif]
  2. NM_001322266.2NP_001309195.1  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) and variant 4 both encode the same isoform (3).
    Source sequence(s)
    AL449305
    Conserved Domains (2) summary
    cd00200
    Location:8276
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:4278
    7WD40; WD40 repeat [structural motif]
  3. NM_001322267.2NP_001309196.1  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) and variant 3 both encode the same isoform (3).
    Source sequence(s)
    AL449305
    Conserved Domains (2) summary
    cd00200
    Location:8276
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:4278
    7WD40; WD40 repeat [structural motif]
  4. NM_004697.5NP_004688.2  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 1

    See identical proteins and their annotated locations for NP_004688.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW052006, BC001588, CA420073, DA815191
    Consensus CDS
    CCDS6791.1
    UniProtKB/Swiss-Prot
    O43172, O43445, O43864, Q5T1M8, Q96DG2, Q96IK4
    UniProtKB/TrEMBL
    B2R7V4
    Related
    ENSP00000363315.4, ENST00000374199.9
    Conserved Domains (3) summary
    smart00500
    Location:103141
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    cd00200
    Location:233519
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:234271
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_136265.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL449305
  2. NR_136266.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL449305

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    113275658..113292905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    125474498..125491706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)