GenTIGS

Guanylate cyclase activator 1B (GUCA1B) 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_002098.6	NP_002089.4	NC_000006.12	(42183283..42194955, complement)	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 124 reference articles

Variant Information Guanylate cyclase activator 1B (GUCA1B) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Guanylate cyclase activator 1B (GUCA1B)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	photoreceptor outer segment	Component	-
2	Homo sapiens	IBA	is_active_in	photoreceptor inner segment	Component	-
3	Homo sapiens	IDA	located_in	photoreceptor inner segment	Component	9620085
4	Homo sapiens	IEA	located_in	photoreceptor inner segment	Component	-
5	Homo sapiens	IBA	enables	calcium ion binding	Function	-
6	Homo sapiens	IEA	enables	calcium ion binding	Function	-
7	Homo sapiens	IPI	enables	protein binding	Function	32296183
8	Homo sapiens	IEA	located_in	plasma membrane	Component	-
9	Homo sapiens	IDA	located_in	cilium	Component	-
10	Homo sapiens	TAS	involved_in	receptor guanylyl cyclase signaling pathway	Process	1327879
11	Homo sapiens	TAS	involved_in	cell-cell signaling	Process	1409606
12	Homo sapiens	TAS	involved_in	body fluid secretion	Process	1327879
13	Homo sapiens	IBA	involved_in	visual perception	Process	-
14	Homo sapiens	IEA	involved_in	visual perception	Process	-
15	Homo sapiens	IBA	enables	calcium sensitive guanylate cyclase activator activity	Function	-
16	Homo sapiens	IEA	enables	calcium sensitive guanylate cyclase activator activity	Function	-
17	Homo sapiens	TAS	enables	calcium sensitive guanylate cyclase activator activity	Function	1409606
18	Homo sapiens	IBA	involved_in	regulation of signal transduction	Process	-
19	Homo sapiens	IEA	enables	guanylate cyclase regulator activity	Function	-
20	Homo sapiens	IEA	enables	metal ion binding	Function	-
21	Homo sapiens	IEA	located_in	photoreceptor disc membrane	Component	-
22	Homo sapiens	TAS	located_in	photoreceptor disc membrane	Component	-
23	Homo sapiens	IBA	is_active_in	cone photoreceptor outer segment	Component	-
24	Homo sapiens	IDA	located_in	cone photoreceptor outer segment	Component	9620085