CRB1 - crumbs cell polarity complex component 1 Gene

Also Known as LCA8; RP12; CRB1-A; CRB1-B; CRB1-C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23418

About CRB1

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:197,201,504-197,478,455 (from NCBI)

This gene has 12 transcripts (splice variants), 277 orthologues and is associated with 11 phenotypes. Biased expression in brain (RPKM 4.0) and testis (RPKM 1.3).

Summary

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]

CRB1 Products (4)

mRNA	Protein	Name
NM_001193640.2	NP_001180569.1	protein crumbs homolog 1 isoform 2 precursor
NM_001257965.2	NP_001244894.1	protein crumbs homolog 1 isoform 3
NM_001257966.2	NP_001244895.1	protein crumbs homolog 1 isoform 4 precursor
NM_201253.3	NP_957705.1	protein crumbs homolog 1 isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11927608	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in adherens junction	IDA IDA: Inferred from direct assay	15914641	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	15914641	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

CRB1 Protein Structure

EGF

hEGF

EGF

Laminin_G_2

EGF

Laminin_G_2

EGF

Laminin_G_2

EGF

0
300
600
900
1200
1406 a.a.

Protein Preferred Names	Protein Names
protein crumbs homolog 1	crumbs 1, cell polarity complex component

CRB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CRB1	P82279	EPB41L5	Homo sapiens	Q9HCM4	Y2H	17920587
Intra	CRB1	P82279	EPB41L5	Homo sapiens	Q9HCM4	Pull Down	17920587
Intra	CRB1	P82279	EPB41L5	Homo sapiens	Q9HCM4	Complementation	17920587
Intra	CRB1	P82279	PALS1	Homo sapiens	Q8N3R9	Confocal	15914641
Intra	CRB1	P82279	PALS1	Homo sapiens	Q8N3R9	Complementation	17920587
Intra	CRB1	P82279	PALS1	Homo sapiens	Q8N3R9	Y2H	17920587
Intra	CRB1	P82279	PALS1	Homo sapiens	Q8N3R9	Anti Tag CoIP	11927608
Intra	CRB1	P82279	PATJ	Homo sapiens	Q8NI35	Anti Tag CoIP	11927608
Intra	CRB1	P82279	PATJ	Homo sapiens	Q8NI35	Anti Bait CoIP	11927608
Cross	CRB1	P82279	EPB41L5	Bos taurus	Q58CU2	Pull Down	17920587
Cross	CRB1	P82279	PALS1	Bos taurus	A0A3Q1LY00	Y2H	15914641
Cross	CRB1	P82279	PALS1	Bos taurus	A0A3Q1LY00	Pull Down	17920587

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Retinochoroidal Atrophy PPCRA Pprca Atrophy, Chorioretinal, Pigmented Paravenous
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Retinitis Pigmentosa 12	RP12 Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium Rp With Or Without Pprpe Retinitis Pigmentosa-12
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
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
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
Nanophthalmos	Nanophthalmia
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
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
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Retinal Degeneration	Degeneration Of Retina
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Retinitis
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Retinal Telangiectasia
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
Optic Disk Drusen	Optic Disc Drusen Drusen Of Optic Disc Optic Nerve Head Drusen Drusen Optic Disc
Chorioretinal Scar	Chorioretinal Cicatrix Cicatrix Of Choroid Choroid Scar Macula Scar Macular Scarring Retinal Cicatrix Retinal Scar
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Pseudopapilledema
Pseudoretinitis Pigmentosa	Secondary Pigmentary Retinal Degeneration Secondary Pigmentary Degeneration Of Retina
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Leber Congenital Amaurosis 7	LCA7 Leber Congenital Amaurosis, Type 7
Leber Congenital Amaurosis 11	LCA11 Leber Congenital Amaurosis, Type 11
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
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
Eye Degenerative Disease
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Macular Retinal Edema	Macular Edema Macular Oedema Macular Retinal Oedema Macular Edema, Cystoid
Barre-Lieou Syndrome	Cervicocranial Syndrome Posterior Cervical Sympathetic Syndrome
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Aqueous Misdirection
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Gapo Syndrome	GAPOS Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Congenital Syphilis	Syphilis, Congenital Congenital Syphilis, Unspecified Mtct Of Syphilis Mother-To-Child Transmission Of Syphilis Syphilis Congenital Hereditary Syphilis Heredosyphilis
Enophthalmos
Refractive Error	Refractive Errors
Acute Closed-Angle Glaucoma	Acute Angle-Closure Glaucoma
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
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Vitreous Syneresis	Vitreous Degeneration
Chorioretinitis	Retinochoroiditis
Coats Disease	Exudative Retinopathy Retinal Telangiectasis Coats' Disease Leber Miliary Aneurysm Coats' Syndrome Congenital Retinal Telangiectasia
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
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
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Night Blindness	Nyctalopia
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
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
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Physical Disorder	Physical Illness
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Lens Disease	Lens Diseases
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Sensory System 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
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03140	CRB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown