GenTIGS

IQ motif containing B1 (IQCB1) Associated conditions: 1. Leber congenital amaurosis 2. Nephronophthisis 3. Senior-Loken 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_001023570.4	NP_001018864.2	NC_000003.12	(121769760..121835059, complement)	Reference GRCh38.p14 Primary Assembly	Q15051
2	REVIEWED	NM_001023571.4	NP_001018865.2	NC_000003.12	(121769760..121835059, complement)	Reference GRCh38.p14 Primary Assembly	Q15051
3	REVIEWED	NM_001319107.2	NP_001306036.1	NC_000003.12	(121769760..121835059, complement)	Reference GRCh38.p14 Primary Assembly	Q15051
4	REVIEWED	NR_134968.2	-	NC_000003.12	(121769760..121835059, complement)	Reference GRCh38.p14 Primary Assembly	Q15051

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 176 reference articles

Variant Information IQ motif containing B1 (IQCB1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene IQ motif containing B1 (IQCB1)

ClinVar variants:Revealing mutagenic patterns

GO Term of IQ motif containing B1 (IQCB1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	photoreceptor outer segment	Component	-
2	Homo sapiens	IPI	enables	protein binding	Function	18723859 21565611 23446637 25552655 26638075 27173435 28514442 29959317 32296183 33961781
3	Homo sapiens	IDA	enables	calmodulin binding	Function	15723066
4	Homo sapiens	IEA	enables	calmodulin binding	Function	-
5	Homo sapiens	IDA	is_active_in	centrosome	Component	28498859
6	Homo sapiens	IDA	located_in	centrosome	Component	21399614
7	Homo sapiens	IEA	located_in	centrosome	Component	-
8	Homo sapiens	IEA	located_in	centriole	Component	-
9	Homo sapiens	TAS	located_in	cytosol	Component	-
10	Homo sapiens	IBA	is_active_in	cilium	Component	-
11	Homo sapiens	IPI	enables	enzyme binding	Function	23382074
12	Homo sapiens	IEA	involved_in	cell projection organization	Process	-
13	Homo sapiens	IDA	enables	protein-macromolecule adaptor activity	Function	25552655 28498859
14	Homo sapiens	IDA	located_in	photoreceptor connecting cilium	Component	15723066
15	Homo sapiens	IEA	located_in	photoreceptor connecting cilium	Component	-
16	Homo sapiens	NAS	located_in	ciliary transition zone	Component	28401750
17	Homo sapiens	IDA	located_in	ciliary basal body	Component	-
18	Homo sapiens	IMP	involved_in	photoreceptor cell maintenance	Process	15723066
19	Homo sapiens	IMP	involved_in	maintenance of animal organ identity	Process	15723066
20	Homo sapiens	IBA	involved_in	cilium assembly	Process	-
21	Homo sapiens	IDA	involved_in	cilium assembly	Process	25552655
22	Homo sapiens	IEA	involved_in	cilium assembly	Process	-
23	Homo sapiens	ISS	involved_in	cilium assembly	Process	-
24	Homo sapiens	IDA	involved_in	cytosolic ciliogenesis	Process	28498859
25	Homo sapiens	IDA	enables	BBSome binding	Function	25552655
26	Homo sapiens	HDA	located_in	extracellular exosome	Component	18570454
27	Homo sapiens	NAS	involved_in	protein localization to ciliary transition zone	Process	28401750