GenTIGS

Pre-mRNA processing factor 6 (PRPF6) 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_012469.4	NP_036601.2	NC_000020.11	(63981131..64033099)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	XR_007067448.1	-	NC_000020.11	(63981131..64033099)	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 1225 reference articles

Variant Information Pre-mRNA processing factor 6 (PRPF6) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Pre-mRNA processing factor 6 (PRPF6)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	involved_in	spliceosomal tri-snRNP complex assembly	Process	-
2	Homo sapiens	IC	involved_in	spliceosomal tri-snRNP complex assembly	Process	10788320
3	Homo sapiens	IDA	involved_in	spliceosomal tri-snRNP complex assembly	Process	20118938
4	Homo sapiens	IMP	involved_in	spliceosomal tri-snRNP complex assembly	Process	15257298
5	Homo sapiens	NAS	involved_in	spliceosomal tri-snRNP complex assembly	Process	38484052
6	Homo sapiens	NAS	involved_in	spliceosomal complex assembly	Process	10788320
7	Homo sapiens	NAS	involved_in	RNA splicing, via transesterification reactions	Process	10788320
8	Homo sapiens	NAS	involved_in	spliceosomal snRNP assembly	Process	30975767
9	Homo sapiens	NAS	involved_in	spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)	Process	38484052
10	Homo sapiens	IBA	involved_in	mRNA splicing, via spliceosome	Process	-
11	Homo sapiens	IC	involved_in	mRNA splicing, via spliceosome	Process	10788320 11991638 15257298
12	Homo sapiens	IDA	involved_in	mRNA splicing, via spliceosome	Process	21549338 28781166
13	Homo sapiens	IEA	involved_in	mRNA splicing, via spliceosome	Process	-
14	Homo sapiens	NAS	involved_in	mRNA splicing, via spliceosome	Process	30975767 38467877
15	Homo sapiens	HDA	enables	RNA binding	Function	22658674
16	Homo sapiens	IDA	enables	RNA binding	Function	20797886
17	Homo sapiens	IPI	enables	protein binding	Function	12620389 15840814 16723661 17314511 17332742 17353931 21150319 22365833 26496610 27173435 28514442 33961781 34316702 35271311 35709258 39251607 40205054
18	Homo sapiens	IDA	located_in	nucleus	Component	16414017 28781166
19	Homo sapiens	NAS	located_in	nucleus	Component	30975767
20	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
21	Homo sapiens	IEA	located_in	nucleoplasm	Component	-
22	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
23	Homo sapiens	IEA	part_of	spliceosomal complex	Component	-
24	Homo sapiens	NAS	part_of	spliceosomal complex	Component	10788320
25	Homo sapiens	IDA	part_of	U5 snRNP	Component	10788320
26	Homo sapiens	IEA	involved_in	RNA processing	Process	-
27	Homo sapiens	IEA	involved_in	mRNA processing	Process	-
28	Homo sapiens	IMP	acts_upstream_of_or_within	RNA localization	Process	20797886
29	Homo sapiens	IEA	involved_in	RNA splicing	Process	-
30	Homo sapiens	NAS	involved_in	RNA splicing	Process	10788320
31	Homo sapiens	HDA	located_in	membrane	Component	19946888
32	Homo sapiens	IDA	located_in	nuclear speck	Component	21549338
33	Homo sapiens	IEA	located_in	nuclear speck	Component	-
34	Homo sapiens	IDA	enables	protein-macromolecule adaptor activity	Function	20118938
35	Homo sapiens	IPI	enables	identical protein binding	Function	16723661
36	Homo sapiens	IDA	enables	ribonucleoprotein complex binding	Function	10788320
37	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of transcription by RNA polymerase II	Process	16414017
38	Homo sapiens	IBA	part_of	U4/U6 x U5 tri-snRNP complex	Component	-
39	Homo sapiens	IDA	part_of	U4/U6 x U5 tri-snRNP complex	Component	10788320
40	Homo sapiens	IDA	part_of	U2-type precatalytic spliceosome	Component	28781166
41	Homo sapiens	IBA	part_of	catalytic step 2 spliceosome	Component	-
42	Homo sapiens	IDA	part_of	catalytic step 2 spliceosome	Component	11991638