IQCB1 - IQ motif containing B1 Gene

Also Known as PIQ; NPHP5; SLSN5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9657

About IQCB1

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:121,769,761-121,835,060 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 16.8), lymph node (RPKM 10.7) and 25 other tissues.

Summary

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 of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]

IQCB1 Products (3)

mRNA	Protein	Name
NM_001023570.4	NP_001018864.2	IQ calmodulin-binding motif-containing protein 1 isoform a
NM_001023571.4	NP_001018865.2	IQ calmodulin-binding motif-containing protein 1 isoform c
NM_001319107.2	NP_001306036.1	IQ calmodulin-binding motif-containing protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables BBSome binding	IDA IDA: Inferred from direct assay	25552655	GOA
enables calmodulin binding	IDA IDA: Inferred from direct assay	15723066	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	23382074	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18723859	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	25552655	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IDA IDA: Inferred from direct assay	25552655	GOA
involved in cytosolic ciliogenesis	IDA IDA: Inferred from direct assay	28498859	GOA
involved in maintenance of animal organ identity	IMP IMP: Inferred from mutant phenotype	15723066	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	15723066	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in centrosome	IDA IDA: Inferred from direct assay	28498859	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	15723066	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IQCB1 Protein Structure

0
100
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300
400
500
598 a.a.

Protein Preferred Names	Protein Names
IQ calmodulin-binding motif-containing protein 1	nephrocystin 5

IQCB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	IQCB1	Q15051	BBS1	Homo sapiens	Q8NFJ9	IF	25552655
Intra	IQCB1	Q15051	BBS1	Homo sapiens	Q8NFJ9	Anti Tag CoIP	25552655
Intra	IQCB1	Q15051	BBS1	Homo sapiens	Q8NFJ9	PLA	25552655
Intra	IQCB1	Q15051	BBS4	Homo sapiens	Q96RK4	PLA	25552655
Intra	IQCB1	Q15051	BBS4	Homo sapiens	Q96RK4	Anti Tag CoIP	25552655
Intra	IQCB1	Q15051	BBS7	Homo sapiens	Q8IWZ6	IF	25552655
Intra	IQCB1	Q15051	BBS7	Homo sapiens	Q8IWZ6	Anti Tag CoIP	25552655
Intra	IQCB1	Q15051	BBS7	Homo sapiens	Q8IWZ6	PLA	25552655
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Pull Down	18723859
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Anti Tag CoIP	23446637
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Anti Tag CoIP	28514442
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Anti Tag CoIP	21565611
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Anti Tag CoIP	18723859
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	PLA	25552655
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Anti Tag CoIP	25552655
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	IF	23446637
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Anti Tag CoIP	33961781
Intra	IQCB1	Q15051	CEP290	Homo sapiens	O15078	Anti Bait CoIP	23446637
Intra	IQCB1	Q15051	BBS9	Homo sapiens	Q3SYG4	Anti Tag CoIP	25552655
Intra	IQCB1	Q15051	BBS9	Homo sapiens	Q3SYG4	IF	25552655
Intra	IQCB1	Q15051	BBS9	Homo sapiens	Q3SYG4	PLA	25552655
Intra	IQCB1	Q15051	BBS5	Homo sapiens	Q8N3I7	Anti Tag CoIP	25552655
Intra	IQCB1	Q15051	BBS5	Homo sapiens	Q8N3I7	PLA	25552655
Intra	IQCB1	Q15051	BBS5	Homo sapiens	Q8N3I7	IF	25552655
Intra	IQCB1	Q15051	TTC8	Homo sapiens	Q8TAM2	PLA	25552655
Intra	IQCB1	Q15051	TTC8	Homo sapiens	Q8TAM2	Anti Tag CoIP	25552655
Intra	IQCB1	Q15051	BBS2	Homo sapiens	Q9BXC9	PLA	25552655
Intra	IQCB1	Q15051	BBS2	Homo sapiens	Q9BXC9	IF	25552655
Intra	IQCB1	Q15051	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	25552655

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Senior-Loken Syndrome 5	SLSN5 Senior-Loken Syndrome, Type 5
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Retinitis Pigmentosa 3	RP3 Retinitis Pigmentosa 15 Rp15 Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women Cone-Rod Degeneration, X-Linked Retinitis Pigmentosa Type 15 X-Linked Cone-Rod Degeneration X-Linked Retinitis Pigmentosa 3 Xlrp3 Xlrp-3 Retinitis Pigmentosa-3 Retinitis Pigmentosa, Type 3
Nephronophthisis 11	NPHP11 Nephronophthisis, Type 11
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Non-Syndromic X-Linked Intellectual Disability 99	Mrx99 X-Linked Mental Retardation 99
Nephronophthisis 12	NPHP12 Joubert Syndrome 11 JBTS11 Nephronophthisis, Type 12
Leber Congenital Amaurosis 15	LCA15 Leber Congenital Amaurosis, Type 15
Nephronophthisis 16	NPHP16 Nephronophthisis, Type 16
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa 69	RP69 Retinitis Pigmentosa, Type 69
Microphthalmia, Isolated 6	Isolated Microphthalmia 6 MCOP6 Microphthalmia, Posterior Nonsyndromic Posterior Nonsyndromic Microphthalmia Microphthalmia, Isolated, 6 Autosomal Recessive Posterior Microphthalmos Posterior Non-Syndromic Microphthalmia Microphthalmia, Isolated, Type 6
Nephronophthisis 14	Joubert Syndrome 19 NPHP14 JBTS19 Nephronophthisis, Type 14
Nephronophthisis 9	NPHP9 Nephronophthisis, Type 9
Renal-Hepatic-Pancreatic Dysplasia	Ivemark'S Syndrome Ivemark Ii Syndrome Renohepaticopancreatic Dysplasia
Bardet-Biedl Syndrome 16	BBS16 Bardet-Biedl Syndrome, Type 16
Leber Congenital Amaurosis 11	LCA11 Leber Congenital Amaurosis, Type 11
Cone-Rod Dystrophy 13	CORD13 Dystrophy, Cone-Rod, Type 13
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Leber Congenital Amaurosis 14	LCA14 Retinitis Pigmentosa, Juvenile, Lrat-Related Retinal Dystrophy, Early-Onset Severe Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa Juvenile Lrat-Related Severe Early-Onset Retinal Dystrophy Lrat-Related Retinal Dystrophy, Early-Onset Severe, Lrat-Related Leber Congenital Amaurosis, Type 14
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Nephronophthisis 2	NPHP2 Nph2 Nephronophthisis 2, Infantile Infantile Nephronophthisis 2 Infantile Nephronophthisis Nephronophthisis, Type 2
Nephronophthisis 7	NPHP7 Nephronophthisis, Type 7
Retinitis Pigmentosa 4	RP4 Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive Retinitis Pigmentosa, Rhodopsin-Related Retinitis Pigmentosa, Type 4
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Leber Congenital Amaurosis 12	LCA12 Leber Congenital Amaurosis, Type 12
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
Macular Degeneration, X-Linked Atrophic	X-Linked Atrophic Macular Degeneration Macular Degeneration, X-Linked, Atrophic MDXLA Degeneration, Macular, X-Linked Atrophic
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
Cogan Syndrome	Cogan'S Syndrome Diffuse Interstitual Keratitis Cogans Syndrome Oculovestibuloauditory Syndrome
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Retinitis Pigmentosa 42	RP42 Retinitis Pigmentosa-42 Retinitis Pigmentosa, Type 42
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Cranioectodermal Dysplasia 1	Sensenbrenner Syndrome CED1 Levin Syndrome I Cranio-Ectodermal Dysplasia Dysplasia, Cranioectodermal, Type 1 Cranioectodermal Dysplasia
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Eye Degenerative Disease
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06875	IQCB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22576	Iqcb1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29094	Iqcb1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	IQCB1	RGD	RGD:1310069
Canis familiaris	IQCB1	VGNC	VGNC:42074
Bos taurus	IQCB1	VGNC	VGNC:30250
Felis catus	IQCB1	VGNC	VGNC:62959
Macaca mulatta	IQCB1	VGNC	VGNC:73674
Mus musculus	IQCB1	MGD	MGI:2443764
Others	IQCB1	NCBI