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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CRB1 Gene

protein-coding GIFtS: 60
GCID: GC01P197170

crumbs homolog 1 (Drosophila)

(Previous name: crumbs (Drosophila) homolog 1 )
(Previous symbol: RP12)

Explore 25 diseases affiliated with
CRB1 via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Crumbs Homolog 1 (Drosophila)¹ ²
LCA8¹ ² ⁵
RP12¹ ² ⁵
Crumbs (Drosophila) Homolog 1¹
Protein Crumbs Homolog 1²

External Ids:	HGNC: 2343¹	Entrez Gene: 23418²	Ensembl: ENSG00000134376⁷	OMIM: 604210⁵	UniProtKB: P82279³

Export aliases for CRB1 gene to outside databases

Previous GC identifers: GC01P194964 GC01P192695 GC01P193703 GC01P194525 GC01P193969 GC01P195504 GC01P197237 GC01P168395

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CRB1:

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)

UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279

Function: Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion

Gene Wiki entry for CRB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CRB1 gene promoter:
Max1 RP58 MyoD RORalpha1 POU2F1 POU2F1a c-Myc Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CRB1 promoter sequence

Search SABiosciences Chromatin IP Primers for CRB1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRB1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q31-q32.1 Ensembl cytogenetic band: 1q31.3 HGNC cytogenetic band: 1q31-q32.1

CRB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRB1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P197170: view genomic region (about GC identifiers)

Start:	197,170,592 bp from pter	End:	197,447,585 bp from pter
Size:	276,994 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279 (See protein sequence)

Recommended Name: Protein crumbs homolog 1 precursor

Size: 1406 amino acids; 154183 Da

Subunit: Forms a complex with MPDZ (By similarity). Forms a complex with MPP4 and MPP5

Subcellular location: Isoform 1: Apical cell membrane; Single-pass type I membrane protein. Note=Distributed at the

apical membrane of all retinal epithelial cells. Located in the apical membrane of the adherens junction in outer

limiting membrane (OLM) of the retina

Subcellular location: Isoform 2: Secreted

Sequence caution: Sequence=CAE45845.1; Type=Erroneous termination; Positions=567; Note=Translated as Trp;

Sequence=CAI16644.1; Type=Erroneous gene model prediction;

Secondary accessions: A2A308 B7Z5T2 B9EG71 Q5K3A6 Q5TC28 Q5VUT1 Q6N027 Q8WWY0 Q8WWY1

Alternative splicing: 5 isoforms: P82279-1 P82279-2 P82279-3 P82279-4 P82279-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CRB1: NX_P82279

Post-translational modifications:

Extensively glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P82279

CRB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001180569.1 NP_001244894.1 NP_001244895.1 NP_957705.1

ENSEMBL proteins:

ENSP00000433932 ENSP00000356370 ENSP00000356369 ENSP00000356367 ENSP00000395407

ENSP00000438091 ENSP00000438786 ENSP00000439579 ENSP00000444556

Human Recombinant Protein Products for CRB1:

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	Uscn Proteins for CRB1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	--	--
GO:0005902	microvillus	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0016324	apical plasma membrane	IEA	--

CRB1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CRB1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR000742 EG-like_dom

IPR013320 ConA-like_subgrp

IPR001791 Laminin_G

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

Graphical View of Domain Structure for InterPro Entry P82279

ProtoNet protein and cluster: P82279

3 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001791 Laminin G

IPB001881 EGF-like calcium-binding

UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279

Similarity: Belongs to the Crumbs protein family

Similarity: Contains 19 EGF-like domains

Similarity: Contains 3 laminin G-like domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CRUM1_HUMAN, P82279

Function: Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion

Genatlas biochemistry entry for CRB1:

Drosophila crumbs homolog 1,expressed in the neural retina,fetal and adult brain,not expressed in

RPE/choroid,potentially involved in the organization or polarity of retinal cells

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	--	--

CRB1 for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Crb1):

homeostasis/metabolism

mortality/aging

nervous system

pigmentation

vision/eye

CRB1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Crb1^tm1Wij for CRB1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CRB1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRB1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sertoli-Sertoli Cell Junction Dynamics

Epithelial Tight Junctions

0.36

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CRB1

Epithelial Tight Junctions

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CRB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/10 Interacting proteins for CRB1 (P82279^{2, 3} ENSP00000356370⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
INADL	Q8NI35²^,³, ENSP00000360200⁴	MINT-1774293 MINT-1774377 I2D: score=1 STRING: ENSP00000360200
MPP5	Q8N3R9²^,³, ENSP00000261681⁴	MINT-1774397 I2D: score=1 STRING: ENSP00000261681
PSMD13	Q9UNM6³, ENSP00000396937⁴	I2D: score=2 STRING: ENSP00000396937
PRKAR1A	P10644³, ENSP00000351410⁴	I2D: score=1 STRING: ENSP00000351410
DDX56	Q9NY93³, ENSP00000258772⁴	I2D: score=1 STRING: ENSP00000258772

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007009	plasma membrane organization	IEA	--
GO:0007163	establishment or maintenance of cell polarity	TAS	10508521
GO:0007267	cell-cell signaling	TAS	10508521
GO:0016044	cellular membrane organization	--	--
GO:0042462	eye photoreceptor cell development	IEA	--

CRB1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CRB1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CRB1
1 Novoseek chemical compound relationship for CRB1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
guanylate	23.3	1	15914641 (1)

Search CenterWatch for drugs/clinical trials and news about CRB1 / CRUM1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CRB1 gene (5 alternative transcripts):

NM_001193640.1 NM_001257965.1 NM_001257966.1 NM_201253.2 NM_012076.2

Unigene Cluster for CRB1:

Crumbs homolog 1 (Drosophila)

Hs.126135 [show with all ESTs]

Unigene Representative Sequence: NR_047564

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000475659(uc001gty.2) ENST00000484075 ENST00000367400(uc010poz.2 uc001gtz.3 uc009wza.3 uc010ppa.2 uc010ppb.2 uc010ppd.2)

ENST00000367399 ENST00000476483 ENST00000367397(uc001gub.1) ENST00000480086

ENST00000448952 ENST00000538660 ENST00000535699(uc010ppc.1) ENST00000543483

ENST00000544212

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Additional cDNA sequence:

AB208923.1 AF154671.1 AJ748821.1 AK289733.1 AK299367.1 AK299368.1 AK302818.1 AK302826.1

AK307844.1 AY043322.1 AY043323.1 AY043324.1 AY043325.1 BC136271.1 BC143726.1 NR_047563.1

NR_047564.1

11 DOTS entries:

DT.411402 DT.100745044 DT.121421249 DT.411401 DT.121421251 DT.121421243 DT.121421269 DT.40259689

DT.411404 DT.403776 DT.97798112

24/51 AceView cDNA sequences (see all 51):

AA758829 AL713453 BU741609 BG911602 AF154671 NM_012076 BQ943691 NM_201253

BM698287 BM666994 AY043325 BX955547 BX115314 AY043324 N59646 AY043323

BF528238 BQ722048 AA909366 CB155885 BX433191 AI805296 AI026624 BP370566

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CRB1 (see all 8) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14a	·	14b	^	15a	·	15b	·	15c
SP1:													-		-		-														-				-		-		-
SP2:													-		-		-														-
SP3:							-		-				-		-		-														-				-		-		-
SP4:
SP5:

ECgene alternative splicing isoforms for CRB1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CRB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTCAGAGA

About this image

CRB1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Primordial Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CRB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CRB1

SOURCE GeneReport for Unigene cluster: Hs.126135

UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279

Tissue specificity: Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye

SABiosciences Expression via Pathway-Focused PCR Array including CRB1:

Tight Junctions in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRB1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CRB1 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CRB1¹	crumbs homolog 1 (Drosophila)	68.91(n) 63.58(a)		424352 XM_003641670.1 XP_003641718.1
lizard (Anolis carolinensis)	Reptilia	CRB1⁶	--	61(a)	1 ↔ 1	GL343432.1(391654-481541)
zebrafish (Danio rerio)	Actinopterygii	crb1¹	crumbs homolog 1 (Drosophila)	52.91(n) 45.71(a)		560942 NM_001044943.1 NP_001038408.1
worm (Caenorhabditis elegans)	Secernentea	W02C12.1³	EGF-like protein	37(a) (best of 3)		IV(4008218-4014159) --

ENSEMBL Gene Tree for CRB1 (if available)
TreeFam Gene Tree for CRB1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CRB1 gene

NOTCH4² SNED1² NOTCH1² NOTCH3² DLL3² DLL4² CRB2² JAG2²

NOTCH2² JAG1² DNER² DLL1²

11 SIMAP similar genes for CRB1 using alignment to 5 protein entries: CRUM1_HUMAN (see all proteins):

F9 NOTCH3 ACAN PROS1 SNED1 SLIT2

JAG1 DLK2 NOTCH4 NOTCH2NL NTNG1

CRB1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs62636291^1,2	C	pathogenic	185647045(+)	`ATGAAC/TGCTTT`	9	R C	nc-transcript-variantint¹ mis¹		0	--	--	--	--
rs62636275^1,2	C	pathogenic	185647279(+)	`AAATCA/GGAGGC`	9	R G	mis¹ int¹		0	--	--	--	--
rs62635659^1,2	C	pathogenic	185647287(+)	`TACAAC/G/TAGAAA`	14	T R I	mis¹ int¹		0	--	--	--	--
rs62635656^1,2	C	pathogenic	185647464(+)	`TTCCAC/TGACAG`	9	T M	nc-transcript-variantint¹ mis¹		0	--	--	--	--
rs62635655^1,2	C	pathogenic	185647603(+)	`AAAAAG/TAGCCT`	9	E *	stg¹ int¹		0	--	--	--	--
rs62635654^1,2	C	pathogenic	185654832(+)	`ATATCC/TGTGTC`	9	R C	nc-transcript-variantint¹ mis¹		1		NA	4540
rs137853138^1,2	C,F	pathogenic	185754234(+)	`GGGCCG/ATGTGC`	10	/M /V	mis¹		2		NA EU	5863
rs59691602^1,2	C,F	untested	185754619(+)	`ACCAGG/TTGCCT`	9	R S	mis¹ ut5¹		5		WA NA	4746
rs74340652^1,2	C	--	168326798(+)	`CGCATA/GAAAAT`	1	--	us2k¹		0	--	--	--	--
rs75846361^1,2	C	--	168326803(+)	`GAAAAA/TAACTA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CRB1 (197170592 - 197420592 bp, first 250kb of CRB1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for CRB1
3 CNVs: 84777 84776 74850
Human Gene Mutation Database (HGMD): CRB1

Locus Specific Mutation Databases (LSDB): CRB1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRB1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CRB1 for disorders           About GeneDecksing

OMIM gene information: 604210
OMIM disorders: 600105  172870
UniProtKB/Swiss-Prot: CRUM1_HUMAN, P82279

Note=CRB1 mutations have been found in various retinal dystrophies, chronic and disabling disorders of visual

function. They predominantly involve the posterior portion of the ocular fundus, due to degeneration in the sensory

layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. Onset of

inherited retinal dystrophies is painless, bilateral and typically progressive. Most people experience gradual

peripheral vision loss or tunnel vision, and difficulties with poor illumination and night vision. Central vision is

usually unaffected, so the person may still be able to read. However, it can also deteriorate to cause total

blindness. Examples of retinal dystrophies are retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy

among others

Defects in CRB1 are the cause of retinitis pigmentosa type 12 (RP12) [MIM:600105]. A retinal dystrophy

belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits

visible on fundus examination and primary loss of rod photoreceptor cells, followed by secondary loss of cone

photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their

condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP12 is an

autosomal recessive severe form oFTen manifesting in early childhood. Patients experiment progressive visual field

loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal

pigment epithelium (PPRPE) and hypermetropia

Defects in CRB1 are the cause of Leber congenital amaurosis type 8 (LCA8) [MIM:613835]. LCA designates a

clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal

recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography.

LCA represents the most common genetic cause of congenital visual impairment in infants and children

Defects in CRB1 are the cause of pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]. PPCRA is an

unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly

inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females

may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene

which is likely to affect the structure of the CRB1 protein

20/25 diseases for CRB1 (see all 25): About MalaCards

leber congenital amaurosis retinitis pigmentosa retinitis pigmentosa-12, autosomal recessive pigmented paravenous chorioretinal atrophy

retinitis pigmentosa 12 retinitis leber congenital amaurosis 8 cone-rod dystrophy

stargardt disease, autosomal recessive chorioretinal atrophy chorioretinitis stargardt disease

fundus dystrophy retinal degeneration tuberous sclerosis retinal telangiectasia

hyperopia coloboma pituitary tumor keratoconus

5 diseases from the University of Copenhagen DISEASES database for CRB1:

Leber congenital amaurosis Retinitis pigmentosa Fundus dystrophy Retinal telangiectasia

Blindness

8 Novoseek disease relationships for CRB1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lebers congenital amaurosis	98.1	26	11231775 (2), 19407021 (2), 11389483 (2), 11734541 (1) (see all 21)
retinitis pigmentosa	90.2	29	16272259 (3), 11559858 (2), 11389483 (2), 11734541 (1) (see all 24)
retinal degeneration	83.1	6	17234746 (1), 12187427 (1), 12915475 (1), 16505060 (1) (see all 5)
visual impairment	61.4	1	18632300 (1)
retinopathy	60.9	4	12915475 (2), 15914641 (1), 16885194 (1)
blindness	51.8	1	14750597 (1)
atrophy	33.5	3	15691574 (1), 16205573 (1), 17234588 (1)
dysplasia	5.78	2	12915475 (1)

GeneTests: CRB1

Leber Congenital Amaurosis

Genetic Association Database (GAD): CRB1
Human Genome Epidemiology (HuGE) Navigator: CRB1 (7 documents)

Export disorders for CRB1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CRB1 gene, integrated from 9 sources (see all 94):
(articles sorted by number of sources associating them with CRB1)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in the CRB1 gene cause Leber congenital amaurosis. (PubMed id 11231775)^{1, 2, 4, 9} Lotery A.J.... Stone E.M. (2001)
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). (PubMed id 10508521)^{1, 2, 3} den Hollander A.I.... Bergen A.A.B. (1999)
CRB1 mutation spectrum in inherited retinal dystrophies. (PubMed id 15459956)^{1, 2, 9} den Hollander A.I.... Cremers F.P.M. (2004)
MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PubMed id 15914641)^{1, 2, 9} Kantardzhieva A.... Wijnholds J. (2005)
CRB1 mutations may result in retinitis pigmentosa without para- arteriolar RPE preservation. (PubMed id 11559858)^{1, 2, 9} Lotery A.J.... Stone E.M. (2001)
CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. (PubMed id 11734541)^{1, 2, 9} den Hollander A.I.... Cremers F.P.M. (2001)
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. (PubMed id 11389483)^{1, 2, 9} den Hollander A.I.... Cremers F.P.M. (2001)
Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. (PubMed id 15623792)^{1, 2, 9} McKay G.J.... Silvestri G. (2005)
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PubMed id 17724218)^{1, 2, 9} Simonelli F....Banfi S. (2007)
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. (PubMed id 12567265)^{1, 2, 9} Gerber S.... Kaplan J. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23418	HGNC: 2343	AceView: CRB1	Ensembl:ENSG00000134376	euGenes: HUgn23418
ECgene: CRB1	H-InvDB: CRB1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CRB1	Pharmacogenomics, SNPs, Pathways
Mutations of the CRB1 gene	http://www.retina-international.org/files/sci-news/crb1mut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRB1

Intellectual Property for CRB1 gene
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Patent Information for CRB1 gene:
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GeneCards and IP:
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crumbs homolog 1 (Drosophila)

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crumbs homolog 1 (Drosophila)

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