GenTIGS

Bardet-Biedl syndrome 1 (BBS1) Associated conditions: 1. Retinitis pigmentosa 2. Bardet-Biedl syndrome

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_024649.5	NP_078925.3	NC_000011.10	(66510634..66533597)	Reference GRCh38.p14 Primary Assembly	Q8NFJ9

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 180 reference articles

Variant Information Bardet-Biedl syndrome 1 (BBS1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Bardet-Biedl syndrome 1 (BBS1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Bardet-Biedl syndrome 1 (BBS1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	microtubule cytoskeleton organization	Process	-
2	Homo sapiens	IEA	involved_in	neuron migration	Process	-
3	Homo sapiens	IBA	enables	patched binding	Function	21873635
4	Homo sapiens	IPI	enables	patched binding	Function	22228099
5	Homo sapiens	IBA	enables	smoothened binding	Function	21873635
6	Homo sapiens	IPI	enables	smoothened binding	Function	22228099
7	Homo sapiens	IPI	enables	protein binding	Function	16327777 17574030 18000879 18762586 19081074 19150989 20080638 20603001 22139371 22500027 24939912 25402481 25552655 27173435 29039417 32814053
8	Homo sapiens	IBA	is_active_in	centrosome	Component	21873635
9	Homo sapiens	IDA	located_in	centrosome	Component	18762586
10	Homo sapiens	TAS	located_in	cytosol	Component	-
11	Homo sapiens	IBA	is_active_in	axoneme	Component	21873635
12	Homo sapiens	IEA	involved_in	visual perception	Process	-
13	Homo sapiens	IEA	involved_in	sensory perception of smell	Process	-
14	Homo sapiens	IEA	involved_in	photoreceptor cell morphogenesis	Process	-
15	Homo sapiens	IEA	involved_in	fertilization	Process	-
16	Homo sapiens	IEA	involved_in	dendrite development	Process	-
17	Homo sapiens	IEA	involved_in	ventricular system development	Process	-
18	Homo sapiens	IEA	involved_in	striatum development	Process	-
19	Homo sapiens	IEA	involved_in	hippocampus development	Process	-
20	Homo sapiens	IEA	involved_in	cerebral cortex development	Process	-
21	Homo sapiens	IEA	involved_in	adult behavior	Process	-
22	Homo sapiens	IEA	located_in	motile cilium	Component	-
23	Homo sapiens	IEA	located_in	centriolar satellite	Component	-
24	Homo sapiens	IBA	part_of	BBSome	Component	21873635
25	Homo sapiens	IDA	part_of	BBSome	Component	17574030 20080638 24550735
26	Homo sapiens	IPI	part_of	BBSome	Component	19081074
27	Homo sapiens	IEA	involved_in	olfactory behavior	Process	-
28	Homo sapiens	IEA	involved_in	hormone metabolic process	Process	-
29	Homo sapiens	IMP	acts_upstream_of_or_within	Golgi to plasma membrane protein transport	Process	19150989
30	Homo sapiens	IEA	involved_in	cellular lipid metabolic process	Process	-
31	Homo sapiens	IEA	involved_in	fat cell differentiation	Process	-
32	Homo sapiens	IMP	involved_in	photoreceptor cell maintenance	Process	17980398
33	Homo sapiens	IEA	involved_in	brain morphogenesis	Process	-
34	Homo sapiens	IEA	involved_in	cartilage development	Process	-
35	Homo sapiens	IEA	enables	phosphoprotein binding	Function	-
36	Homo sapiens	IDA	located_in	ciliary membrane	Component	19081074
37	Homo sapiens	IMP	involved_in	cilium assembly	Process	17574030
38	Homo sapiens	NAS	involved_in	cilium assembly	Process	19081074
39	Homo sapiens	IEA	involved_in	regulation of cilium beat frequency involved in ciliary motility	Process	-
40	Homo sapiens	IEA	involved_in	neural precursor cell proliferation	Process	-
41	Homo sapiens	IBA	involved_in	protein localization to cilium	Process	21873635
42	Homo sapiens	IMP	involved_in	protein localization to cilium	Process	23943788
43	Homo sapiens	IPI	enables	RNA polymerase II-specific DNA-binding transcription factor binding	Function	22302990
44	Homo sapiens	IBA	involved_in	non-motile cilium assembly	Process	21873635
45	Homo sapiens	IMP	involved_in	non-motile cilium assembly	Process	17980398