GenTIGS

Crumbs cell polarity complex component 1 (CRB1) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis

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_001193640.2	NP_001180569.1	NC_000001.11	(197201503..197478454)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001257965.2	NP_001244894.1	NC_000001.11	(197201503..197478454)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001257966.2	NP_001244895.1	NC_000001.11	(197201503..197478454)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_201253.3	NP_957705.1	NC_000001.11	(197201503..197478454)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NR_047563.2	-	NC_000001.11	(197201503..197478454)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NR_047564.2	-	NC_000001.11	(197201503..197478454)	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 1117 reference articles

Variant Information Crumbs cell polarity complex component 1 (CRB1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Crumbs cell polarity complex component 1 (CRB1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Crumbs cell polarity complex component 1 (CRB1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	photoreceptor outer segment	Component	-
2	Homo sapiens	IEA	located_in	photoreceptor inner segment	Component	-
3	Homo sapiens	IEA	enables	calcium ion binding	Function	-
4	Homo sapiens	IPI	enables	protein binding	Function	11927608 15914641 17920587 33758649
5	Homo sapiens	IEA	located_in	extracellular region	Component	-
6	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
7	Homo sapiens	IEA	located_in	plasma membrane	Component	-
8	Homo sapiens	IEA	located_in	microvillus	Component	-
9	Homo sapiens	IDA	located_in	adherens junction	Component	15914641
10	Homo sapiens	IEA	located_in	adherens junction	Component	-
11	Homo sapiens	IEA	involved_in	cell communication	Process	-
12	Homo sapiens	IBA	involved_in	heterophilic cell-cell adhesion	Process	-
13	Homo sapiens	IEA	involved_in	establishment or maintenance of cell polarity	Process	-
14	Homo sapiens	TAS	involved_in	establishment or maintenance of cell polarity	Process	10508521
15	Homo sapiens	TAS	involved_in	cell-cell signaling	Process	10508521
16	Homo sapiens	IEA	located_in	apical plasma membrane	Component	-
17	Homo sapiens	NAS	located_in	apical plasma membrane	Component	28424578
18	Homo sapiens	IEA	involved_in	signaling	Process	-
19	Homo sapiens	IBA	part_of	protein-containing complex	Component	-
20	Homo sapiens	IDA	part_of	protein-containing complex	Component	15914641
21	Homo sapiens	IEA	part_of	protein-containing complex	Component	-
22	Homo sapiens	IEA	part_of	subapical complex	Component	-
23	Homo sapiens	IEA	located_in	apical junction complex	Component	-
24	Homo sapiens	NAS	located_in	apical junction complex	Component	28424578
25	Homo sapiens	IEA	is_active_in	apical part of cell	Component	-
26	Homo sapiens	IBA	involved_in	establishment or maintenance of epithelial cell apical/basal polarity	Process	-
27	Homo sapiens	NAS	involved_in	establishment or maintenance of epithelial cell apical/basal polarity	Process	28424578
28	Homo sapiens	IEA	involved_in	retina morphogenesis in camera-type eye	Process	-
29	Homo sapiens	IEA	located_in	glial cell projection	Component	-