GenTIGS

RP1 axonemal microtubule associated (RP1) 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_001375654.1	NP_001362583.1	NC_000008.11	(54559184..54871233)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_006269.2	NP_006260.1	NC_000008.11	(54559184..54871233)	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 169 reference articles

Variant Information RP1 axonemal microtubule associated (RP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene RP1 axonemal microtubule associated (RP1)

ClinVar variants:Revealing mutagenic patterns

GO Term of RP1 axonemal microtubule associated (RP1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	photoreceptor outer segment	Component	-
2	Homo sapiens	ISS	located_in	photoreceptor outer segment	Component	-
3	Homo sapiens	IDA	located_in	photoreceptor inner segment	Component	11773008
4	Homo sapiens	IEA	located_in	photoreceptor inner segment	Component	-
5	Homo sapiens	IPI	enables	protein binding	Function	21148103
6	Homo sapiens	IEA	located_in	microtubule	Component	-
7	Homo sapiens	IEA	part_of	microtubule associated complex	Component	-
8	Homo sapiens	ISS	part_of	microtubule associated complex	Component	-
9	Homo sapiens	IEA	located_in	cilium	Component	-
10	Homo sapiens	IBA	is_active_in	axoneme	Component	-
11	Homo sapiens	IEA	located_in	axoneme	Component	-
12	Homo sapiens	IEA	involved_in	visual perception	Process	-
13	Homo sapiens	TAS	involved_in	visual perception	Process	10391211
14	Homo sapiens	TAS	involved_in	phototransduction, visible light	Process	10391211
15	Homo sapiens	IEA	enables	microtubule binding	Function	-
16	Homo sapiens	ISS	enables	microtubule binding	Function	-
17	Homo sapiens	IEA	involved_in	response to light stimulus	Process	-
18	Homo sapiens	IEA	involved_in	cell projection organization	Process	-
19	Homo sapiens	IBA	is_active_in	photoreceptor connecting cilium	Component	-
20	Homo sapiens	IDA	located_in	photoreceptor connecting cilium	Component	11767049
21	Homo sapiens	IEA	located_in	photoreceptor connecting cilium	Component	-
22	Homo sapiens	IBA	involved_in	axoneme assembly	Process	-
23	Homo sapiens	IEA	involved_in	axoneme assembly	Process	-
24	Homo sapiens	ISS	involved_in	axoneme assembly	Process	-
25	Homo sapiens	IEA	involved_in	intracellular signal transduction	Process	-
26	Homo sapiens	IBA	involved_in	photoreceptor cell outer segment organization	Process	-
27	Homo sapiens	IEA	involved_in	photoreceptor cell outer segment organization	Process	-
28	Homo sapiens	ISS	involved_in	photoreceptor cell outer segment organization	Process	-
29	Homo sapiens	IEA	involved_in	photoreceptor cell development	Process	-
30	Homo sapiens	ISS	involved_in	photoreceptor cell development	Process	-
31	Homo sapiens	IBA	involved_in	photoreceptor cell maintenance	Process	-
32	Homo sapiens	IEA	involved_in	photoreceptor cell maintenance	Process	-
33	Homo sapiens	ISS	involved_in	photoreceptor cell maintenance	Process	-
34	Homo sapiens	IEA	involved_in	retinal rod cell development	Process	-
35	Homo sapiens	ISS	involved_in	retinal rod cell development	Process	-
36	Homo sapiens	IEA	involved_in	retinal cone cell development	Process	-
37	Homo sapiens	ISS	involved_in	retinal cone cell development	Process	-
38	Homo sapiens	IBA	involved_in	retina development in camera-type eye	Process	-
39	Homo sapiens	IEA	located_in	ciliary tip	Component	-
40	Homo sapiens	IEA	located_in	photoreceptor cell cilium	Component	-