1. Gene
  2. CRB1 - crumbs cell polarity complex component 1 Gene

CRB1 - crumbs cell polarity complex component 1 Gene

Homo sapiens

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

Gene ID: 23418 | Gene type: protein coding

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

CRB1 Protein Structure

EGF

EGF: EGF-like domain (74 - 104)

hEGF

hEGF: Human growth factor-like EGF (133 - 145)

EGF

EGF: EGF-like domain (152 - 182)

EGF

EGF: EGF-like domain (190 - 218)

EGF

EGF: EGF-like domain (230 - 257)

EGF

EGF: EGF-like domain (307 - 334)

EGF

EGF: EGF-like domain (343 - 393)

EGF

EGF: EGF-like domain (401 - 424)

EGF

EGF: EGF-like domain (445 - 478)

Laminin_G_2

Laminin_G_2: Laminin G domain (514 - 649)

EGF

EGF: EGF-like domain (676 - 706)

Laminin_G_2

Laminin_G_2: Laminin G domain (743 - 860)

EGF

EGF: EGF-like domain (891 - 919)

Laminin_G_2

Laminin_G_2: Laminin G domain (980 - 1104)

EGF

EGF: EGF-like domain (1143 - 1173)

EGF

EGF: EGF-like domain (1181 - 1208)

EGF

EGF: EGF-like domain (1301 - 1331)

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  • 1406 a.a.
Protein Preferred Names Protein Names

protein crumbs homolog 1

crumbs 1, cell polarity complex component

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