PRPF8 pre-mRNA processing factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRPF8provided by HGNC
Official Full Name: pre-mRNA processing factor 8provided by HGNC
Primary source: HGNC:HGNC:17340
See related: Ensembl:ENSG00000174231 MIM:607300; AllianceGenome:HGNC:17340
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: PRP8; RP13; HPRP8; PRPC8; SNRNP220
Summary: Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 48.3), testis (RPKM 47.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1650629..1684867, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1539419..1573935, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1553923..1588161, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5 -splice-site selection causing tissue-specific defects.
Title: PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs.
Title: PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs.
PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing.
Title: PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing.
Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.
Title: Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Title: Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
The role of splicing factor PRPF8 in breast cancer.
Title: The role of splicing factor PRPF8 in breast cancer.
How Is Precursor Messenger RNA Spliced by the Spliceosome?
Title: How Is Precursor Messenger RNA Spliced by the Spliceosome?
circRNA-UBAP2 promotes the proliferation and inhibits apoptosis of ovarian cancer though miR-382-5p/PRPF8 axis.
Title: circRNA-UBAP2 promotes the proliferation and inhibits apoptosis of ovarian cancer though miR-382-5p/PRPF8 axis.
The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
Title: The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
Title: Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 13 MedGen: C1838702 OMIM: 600059 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of PRP8 pre-mRNA processing factor 8 homolog (PRPF8) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Rev	rev	HIV-1 Rev interacting protein, pre-mRNA processing factor 8 homolog (PRPF8), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PRPF8 is increased by RRE	PubMed
Tat	tat	Interaction of HIV-1 Tat with PRPF8 in T-cells is identified by a proteomic strategy based on affinity chromatography coupled with mass spectrometry	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S2448 (e-PCR)
- UniSTS:474444

D17S831 (e-PCR)
- UniSTS:34653

STS-W58284 (e-PCR)
- UniSTS:26463

PRPF8 (e-PCR)
- UniSTS:512655

RH92048 (e-PCR)
- UniSTS:83886

SHGC-148294 (e-PCR)
- UniSTS:172975

D17S1529 (e-PCR), detects polymorphism
- UniSTS:80866

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K63-linked polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables U1 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U2 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U5 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U6 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
NOT enables metal-dependent deubiquitinase activity	IKR Inferred from Key Residues more info	PubMed
NOT enables peptidase activity	IKR Inferred from Key Residues more info	PubMed
enables pre-mRNA intronic binding	IBA Inferred from Biological aspect of Ancestor more info
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 RNA splicing, via transesterification reactions	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	TAS Traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in spliceosomal tri-snRNP complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal tri-snRNP complex assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of U2-type catalytic step 1 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type catalytic step 2 spliceosome	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 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
part_of U5 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
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

General protein information

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Preferred Names: pre-mRNA-processing-splicing factor 8

Names: 220 kDa U5 snRNP-specific protein; PRP8 homolog; PRP8 pre-mRNA processing factor 8 homolog; U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p; apoptosis-regulated protein 1; apoptosis-regulated protein 2; p220; precursor mRNA processing protein; splicing factor Prp8

NCBI Reference Sequences (RefSeq)

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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

NG_009118.1 RefSeqGene

Range

5016..39254

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006445.4 → NP_006436.3 pre-mRNA-processing-splicing factor 8

See identical proteins and their annotated locations for NP_006436.3

Status: REVIEWED

Source sequence(s)

BC064370, CD698473, DB081408

Consensus CDS

CCDS11010.1

UniProtKB/Swiss-Prot

O14547, O75965, Q6P2Q9

UniProtKB/TrEMBL

A0A994J6E8

Related

ENSP00000304350.6, ENST00000304992.11

Conserved Domains (1) summary

COG5178
Location:1 → 2335

PRP8; U5 snRNP spliceosome subunit [RNA processing and modification]

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

1650629..1684867 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450537.2 → XP_024306305.1 pre-mRNA-processing-splicing factor 8 isoform X1

UniProtKB/Swiss-Prot

O14547, O75965, Q6P2Q9

UniProtKB/TrEMBL

A0A994J6E8

Conserved Domains (1) summary

COG5178
Location:1 → 2335

PRP8; U5 snRNP spliceosome subunit [RNA processing and modification]

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

80657..115173 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329197.1 → XP_054185172.1 pre-mRNA-processing-splicing factor 8 isoform X1

UniProtKB/Swiss-Prot

O14547, O75965, Q6P2Q9

UniProtKB/TrEMBL

A0A994J6E8

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

1539419..1573935 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314722.1 → XP_054170697.1 pre-mRNA-processing-splicing factor 8 isoform X1

UniProtKB/Swiss-Prot

O14547, O75965, Q6P2Q9

UniProtKB/TrEMBL

A0A994J6E8