Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9657
Gene name Gene Name - the full gene name approved by the HGNC.	IQ motif containing B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IQCB1
Synonyms (NCBI Gene) Gene synonyms aliases	NPHP5, PIQ, SLSN5
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q13.33\|3q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia

Show/Hide all(28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1141528	A>T	Benign, pathogenic, likely-benign	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121918244	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121918245	G>A,C	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs140630401	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs201405662	G>A,C	Pathogenic, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained, intron variant
rs373909351	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs387907009	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs398123538	TG>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs587783011	->CT	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727503968	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs727503969	T>A	Pathogenic	Splice acceptor variant
rs745340459	->AGCA	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs750962965	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs767295178	->TGCCACA	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs768572151	->AGATAA	Conflicting-interpretations-of-pathogenicity	Intron variant
rs779696701	C>T	Pathogenic	Splice acceptor variant
rs779858591	G>A	Likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs786200929	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs794727964	C>A	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs866982675	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064793692	G>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1156803164	GAGA>-	Pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1189889920	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1280238814	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1474058708	GTCT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553711564	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1553722736	A>C	Likely-pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1576559094	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all(83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027674	hsa-miR-98-5p	Microarray	19088304
MIRT030516	hsa-miR-24-3p	Microarray	19748357
MIRT047676	hsa-miR-10a-5p	CLASH	23622248
MIRT727435	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727434	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727433	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727432	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727431	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1069477	hsa-miR-30a	CLIP-seq
MIRT1069478	hsa-miR-30b	CLIP-seq
MIRT1069479	hsa-miR-30c	CLIP-seq
MIRT1069480	hsa-miR-30d	CLIP-seq
MIRT1069481	hsa-miR-30e	CLIP-seq
MIRT1069482	hsa-miR-3146	CLIP-seq
MIRT1069483	hsa-miR-4495	CLIP-seq
MIRT1069484	hsa-miR-4639-5p	CLIP-seq
MIRT1069485	hsa-miR-603	CLIP-seq
MIRT1069486	hsa-miR-1205	CLIP-seq
MIRT1069487	hsa-miR-1231	CLIP-seq
MIRT1069488	hsa-miR-1299	CLIP-seq
MIRT1069489	hsa-miR-217	CLIP-seq
MIRT1069490	hsa-miR-3148	CLIP-seq
MIRT1069491	hsa-miR-3150b-3p	CLIP-seq
MIRT1069492	hsa-miR-3655	CLIP-seq
MIRT1069493	hsa-miR-3665	CLIP-seq
MIRT1069494	hsa-miR-410	CLIP-seq
MIRT1069495	hsa-miR-4288	CLIP-seq
MIRT1069496	hsa-miR-4418	CLIP-seq
MIRT1069497	hsa-miR-4784	CLIP-seq
MIRT1069498	hsa-miR-509-3-5p	CLIP-seq
MIRT1069499	hsa-miR-509-5p	CLIP-seq
MIRT1069500	hsa-miR-516b	CLIP-seq
MIRT1069501	hsa-miR-589	CLIP-seq
MIRT1069502	hsa-miR-618	CLIP-seq
MIRT1069503	hsa-miR-632	CLIP-seq
MIRT1069504	hsa-miR-657	CLIP-seq
MIRT1069505	hsa-miR-765	CLIP-seq
MIRT1069506	hsa-miR-875-3p	CLIP-seq
MIRT2249050	hsa-miR-1228	CLIP-seq
MIRT1069487	hsa-miR-1231	CLIP-seq
MIRT2249051	hsa-miR-1258	CLIP-seq
MIRT2249052	hsa-miR-1265	CLIP-seq
MIRT2249053	hsa-miR-1283	CLIP-seq
MIRT2249054	hsa-miR-1291	CLIP-seq
MIRT1069488	hsa-miR-1299	CLIP-seq
MIRT2249055	hsa-miR-142-5p	CLIP-seq
MIRT2249056	hsa-miR-2392	CLIP-seq
MIRT2249057	hsa-miR-23a	CLIP-seq
MIRT2249058	hsa-miR-23b	CLIP-seq
MIRT2249059	hsa-miR-23c	CLIP-seq
MIRT1069477	hsa-miR-30a	CLIP-seq
MIRT1069478	hsa-miR-30b	CLIP-seq
MIRT1069479	hsa-miR-30c	CLIP-seq
MIRT1069480	hsa-miR-30d	CLIP-seq
MIRT1069481	hsa-miR-30e	CLIP-seq
MIRT2249060	hsa-miR-3130-3p	CLIP-seq
MIRT1069482	hsa-miR-3146	CLIP-seq
MIRT1069490	hsa-miR-3148	CLIP-seq
MIRT1069491	hsa-miR-3150b-3p	CLIP-seq
MIRT2249061	hsa-miR-3168	CLIP-seq
MIRT2249062	hsa-miR-328	CLIP-seq
MIRT2249063	hsa-miR-329	CLIP-seq
MIRT2249064	hsa-miR-338-5p	CLIP-seq
MIRT2249065	hsa-miR-362-3p	CLIP-seq
MIRT1069492	hsa-miR-3655	CLIP-seq
MIRT1069495	hsa-miR-4288	CLIP-seq
MIRT1069483	hsa-miR-4495	CLIP-seq
MIRT1069484	hsa-miR-4639-5p	CLIP-seq
MIRT1069497	hsa-miR-4784	CLIP-seq
MIRT2249066	hsa-miR-4793-3p	CLIP-seq
MIRT1069500	hsa-miR-516b	CLIP-seq
MIRT1069501	hsa-miR-589	CLIP-seq
MIRT1069485	hsa-miR-603	CLIP-seq
MIRT1069503	hsa-miR-632	CLIP-seq
MIRT2249067	hsa-miR-651	CLIP-seq
MIRT1069505	hsa-miR-765	CLIP-seq
MIRT1069506	hsa-miR-875-3p	CLIP-seq
MIRT2552676	hsa-miR-1305	CLIP-seq
MIRT2552677	hsa-miR-3647-3p	CLIP-seq
MIRT2552678	hsa-miR-3671	CLIP-seq
MIRT2552679	hsa-miR-4762-5p	CLIP-seq
MIRT2552680	hsa-miR-607	CLIP-seq
MIRT2552681	hsa-miR-653	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	18723859, 21565611, 23446637, 25552655, 26638075, 28514442, 29959317, 32296183, 33961781
GO:0005516	Function	Calmodulin binding	IDA	15723066
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	28498859
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0019899	Function	Enzyme binding	IPI	23382074
GO:0030030	Process	Cell projection organization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	25552655, 28498859
GO:0032391	Component	Photoreceptor connecting cilium	IDA	15723066
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	15723066
GO:0048496	Process	Maintenance of animal organ identity	IMP	15723066
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IDA	25552655
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0061824	Process	Cytosolic ciliogenesis	IDA	28498859
GO:0061824	Process	Cytosolic ciliogenesis	IDA	28498859
GO:0062063	Function	BBSome binding	IDA	25552655
GO:0070062	Component	Extracellular exosome	HDA	18570454

MIM	HGNC	e!Ensembl
609237	28949	ENSG00000173226

Protein

UniProt ID

Q15051

Protein name

IQ calmodulin-binding motif-containing protein 1 (Nephrocystin-5) (p53 and DNA damage-regulated IQ motif protein) (PIQ)

Protein function

Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00612	IQ	295 → 315	IQ calmodulin-binding motif	Motif
PF00612	IQ	388 → 408	IQ calmodulin-binding motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors. {ECO:0000269|PubMed:15723066, ECO:000026

Sequence

MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQ
YCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGR
QLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQI
GSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKLFSTPSPVIRSTATKLLLLMAES
HQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQLVGLLSPMVYQEVEEQKLHQAACL
IQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAM
RLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAA
VTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSR
ELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLS
RSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVPKDELSIELENLFIGGTKPP

Sequence length

598

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	leber congenital amaurosis	rs750962965, rs1553722736, rs387907009, rs748559081, rs201405662	N/A
Nephronophthisis	nephronophthisis	rs1280238814, rs727503968, rs373909351, rs727503969, rs750962965, rs387907009, rs779696701, rs794727964, rs866982675, rs1474058708, rs398123538, rs201405662, rs1189889920, rs745340459, rs121918244, rs587783011 View all (1 more)	N/A
renal dysplasia and retinal aplasia	Renal dysplasia and retinal aplasia	rs866982675, rs1576559094, rs121918244	N/A
retinal dystrophy	Retinal dystrophy	rs373909351, rs745340459, rs1280238814, rs1553711564, rs750962965, rs866982675, rs1189889920, rs398123538, rs121918244	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs398123538	N/A
Senior-Loken Syndrome	senior-loken syndrome 5	rs750962965, rs727503968, rs387907009, rs1280238814, rs779696701, rs727503969, rs794727964, rs866982675, rs1156803164, rs1474058708, rs398123538, rs1949141890, rs121918244, rs121918245, rs201405662 View all (5 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bardet-Biedl Syndrome	bardet-biedl syndrome	N/A	N/A	ClinVar
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amaurosis hypertrichosis	Associate	29322253
Bardet Biedl Syndrome	Associate	25552655
Blindness	Associate	36084637
Ciliopathies	Associate	20007846, 21068128, 27491411, 36084637
Cone Rod Dystrophies	Associate	38522724
Disease	Associate	21220633
Hypertensive Retinopathy	Associate	29219953, 38522724
Immunologic Deficiency Syndromes	Associate	23446637
Kidney Diseases	Associate	21220633, 36084637
Leber Congenital Amaurosis	Associate	21220633, 21901789, 24066033, 26147992, 29219953, 29322253, 31212307, 32088401, 36084637, 40725491
Nephrolithiasis	Associate	31754202
Nephronophthisis familial juvenile	Associate	17617513, 18076122, 25851290
Nijmegen Breakage Syndrome	Associate	25552655
Nonsyndromic Holoprosencephaly	Associate	29219953
Retinal Degeneration	Associate	40725491
Retinal Diseases	Associate	21901789, 23446637
Retinal Dystrophies	Associate	24625443, 35409265
Retinitis Pigmentosa	Associate	18076122
Retinitis Pigmentosa 2	Associate	21857984
Senior Loken Syndrome	Associate	20007846, 21220633, 27491411, 30087219, 36084637, 40725491
Vision Disorders	Associate	21220633, 31212307

IQCB1 (IQ motif containing B1)