GenTIGS

Pre-mRNA processing factor 4 (PRPF4) Associated conditions: 1. Retinitis pigmentosa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001244926.2	NP_001231855.1	NC_000009.12	(113275657..113292904)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001322266.2	NP_001309195.1	NC_000009.12	(113275657..113292904)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001322267.2	NP_001309196.1	NC_000009.12	(113275657..113292904)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_004697.5	NP_004688.2	NC_000009.12	(113275657..113292904)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NR_136265.2	-	NC_000009.12	(113275657..113292904)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NR_136266.2	-	NC_000009.12	(113275657..113292904)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1165 reference articles

Variant Information Pre-mRNA processing factor 4 (PRPF4) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Pre-mRNA processing factor 4 (PRPF4)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	NAS	involved_in	spliceosomal tri-snRNP complex assembly	Process	38484052
2	Homo sapiens	NAS	involved_in	spliceosomal complex assembly	Process	39068178
3	Homo sapiens	NAS	involved_in	RNA splicing, via transesterification reactions	Process	9328476
4	Homo sapiens	NAS	involved_in	spliceosomal snRNP assembly	Process	30975767
5	Homo sapiens	NAS	involved_in	spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	Process	38484052
6	Homo sapiens	IBA	involved_in	mRNA splicing, via spliceosome	Process	-
7	Homo sapiens	IC	involved_in	mRNA splicing, via spliceosome	Process	9570313
8	Homo sapiens	IDA	involved_in	mRNA splicing, via spliceosome	Process	28781166
9	Homo sapiens	NAS	involved_in	mRNA splicing, via spliceosome	Process	10545122 11971955 30975767 39068178
10	Homo sapiens	IPI	enables	protein binding	Function	9570313 12875835 12907720 16055720 16723661 19615732 22365833 23793891 25383878 26030138 26496610 28935721 29997244 33961781
11	Homo sapiens	IDA	located_in	nucleus	Component	28781166
12	Homo sapiens	IEA	located_in	nucleus	Component	-
13	Homo sapiens	NAS	located_in	nucleus	Component	30975767
14	Homo sapiens	TAS	located_in	nucleus	Component	9328476
15	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
16	Homo sapiens	IC	part_of	spliceosomal complex	Component	9570313
17	Homo sapiens	IEA	part_of	spliceosomal complex	Component	-
18	Homo sapiens	NAS	part_of	spliceosomal complex	Component	9328476
19	Homo sapiens	TAS	involved_in	RNA processing	Process	9328476
20	Homo sapiens	IEA	involved_in	mRNA processing	Process	-
21	Homo sapiens	IEA	involved_in	RNA splicing	Process	-
22	Homo sapiens	TAS	involved_in	RNA splicing	Process	9328476
23	Homo sapiens	IDA	located_in	Cajal body	Component	15257298
24	Homo sapiens	IDA	located_in	nuclear speck	Component	25383878
25	Homo sapiens	IEA	located_in	nuclear speck	Component	-
26	Homo sapiens	IBA	enables	U6 snRNA binding	Function	-
27	Homo sapiens	IBA	enables	U4 snRNA binding	Function	-
28	Homo sapiens	IBA	part_of	U4/U6 x U5 tri-snRNP complex	Component	-
29	Homo sapiens	IDA	part_of	U4/U6 x U5 tri-snRNP complex	Component	23793891
30	Homo sapiens	IDA	part_of	U4/U6 snRNP	Component	9570313 25383878
31	Homo sapiens	IDA	part_of	U2-type precatalytic spliceosome	Component	28781166
32	Homo sapiens	IDA	part_of	spliceosomal snRNP complex	Component	25383878