Crb1 crumbs family member 1, photoreceptor morphogenesis associated [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crb1provided by MGI
Official Full Name: crumbs family member 1, photoreceptor morphogenesis associatedprovided by MGI
Primary source: MGI:MGI:2136343
See related: Ensembl:ENSMUSG00000063681 AllianceGenome:MGI:2136343
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CRB1-A; CRB1-B; CRB1-C; CRB1-A2; 7530426H14Rik; A930008G09Rik
Summary: Predicted to enable calcium ion binding activity. Involved in post-embryonic retina morphogenesis in camera-type eye and visual perception. Acts upstream of with a positive effect on gene expression. Acts upstream of with a negative effect on protein localization. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; establishment of bipolar cell polarity involved in cell morphogenesis; and neurogenesis. Located in several cellular components, including adherens junction; microvillus; and photoreceptor outer segment. Part of subapical complex. Is active in apical part of cell. Is expressed in several structures, including alimentary system; central nervous system; epidermis; genitourinary system; and sensory organ. Used to study Leber congenital amaurosis 8 and retinitis pigmentosa 12. Human ortholog(s) of this gene implicated in pigmented paravenous chorioretinal atrophy and retinal disease (multiple). Orthologous to human CRB1 (crumbs cell polarity complex component 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1 E4- F; 1 60.87 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (139101288..139307262, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (139176649..139379316, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

a simple and effective PCR based method for genotyping rd1 (Pde6b) and rd8 (Crb1) in mice.
Title: Genotyping single point mutations in rd1 and rd8 mice using melting curve analysis of qPCR fragments.
CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.
Title: CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.
Title: Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.
Transcriptomics analysis of Ccl2/Cx3cr1/Crb1(rd8) deficient mice provides new insights into the pathophysiology of progressive retinal degeneration.
Title: Transcriptomics analysis of Ccl2/Cx3cr1/Crb1(rd8) deficient mice provides new insights into the pathophysiology of progressive retinal degeneration.
CRB1(rd8) mutation influences the age-related macular degeneration phenotype of NRF2 knockout mice and favors choroidal neovascularization.
Title: CRB1(rd8) mutation influences the age-related macular degeneration phenotype of NRF2 knockout mice and favors choroidal neovascularization.
Cytoglobin deficiency potentiates Crb1-mediated retinal degeneration in rd8 mice.
Title: Cytoglobin deficiency potentiates Crb1-mediated retinal degeneration in rd8 mice.
CRB1 expression during retinal vascular development.
Title: Crumbs proteins regulate layered retinal vascular development required for vision.
These results suggest that human leber congenital amaurosis 8 can be modeled in the mouse by simultaneously ablating Crb1/2 from the beginning of eye development.
Title: Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8.
The rnv3 model and the models of six novel disruptions of Crb1 are all reliable, novel mouse models for the study of both early and late events associated with posterior segment vascularization.
Title: Spontaneous Posterior Segment Vascular Disease Phenotype of a Mouse Model, rnv3, Is Dependent on the Crb1rd8 Allele.
We hypothesize, from these animal models, that decreased levels of CRB2 in immature photoreceptors adjust retinitis pigmentosa because of the loss of CRB1 into Leber congenital amaurosis phenotype.
Title: CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (16) 1 citation
Spontaneous (1) 1 citation
Targeted (4) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

Crb1 (e-PCR), detects polymorphism
- UniSTS:506821

D1Mit394 (e-PCR), detects polymorphism
- UniSTS:128755

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of bipolar cell polarity involved in cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-embryonic retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-embryonic retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	ISO Inferred from Sequence Orthology more info
located_in apical junction complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in glial cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of subapical complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: protein crumbs homolog 1

Names: crumbs homolog 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_133239.2 → NP_573502.2 protein crumbs homolog 1 precursor

See identical proteins and their annotated locations for NP_573502.2

Status: VALIDATED

Source sequence(s)

AC116810, AC138741, AL606536

Consensus CDS

CCDS15336.1

UniProtKB/Swiss-Prot

B7ZC63, Q6ST50, Q71JF2, Q8BGR4, Q8VHS2

UniProtKB/TrEMBL

A0A0G2JDY0, A0A7D6VMF7

Related

ENSMUSP00000060769.6, ENSMUST00000059825.12

Conserved Domains (4) summary

smart00179
Location:396 → 437

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:224 → 259

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:113 → 143

EGF; EGF-like domain

pfam02210
Location:513 → 648

Laminin_G_2; Laminin G domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

139101288..139307262 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162466.1 → XP_036018359.1 protein crumbs homolog 1 isoform X8

UniProtKB/TrEMBL

A0A7D6VQV3

Conserved Domains (3) summary

smart00179
Location:64 → 105

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:964 → 1000

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:181 → 316

Laminin_G_2; Laminin G domain
XM_036162461.1 → XP_036018354.1 protein crumbs homolog 1 isoform X6

Conserved Domains (3) summary

smart00179
Location:175 → 216

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:64 → 99

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:292 → 427

Laminin_G_2; Laminin G domain
XM_030251877.2 → XP_030107737.1 protein crumbs homolog 1 isoform X4

Conserved Domains (3) summary

smart00179
Location:236 → 277

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:64 → 99

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:353 → 487

Laminin_G_2; Laminin G domain
XM_036162487.1 → XP_036018380.1 protein crumbs homolog 1 isoform X10

Conserved Domains (2) summary

cd00054
Location:765 → 801

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:211 → 328

Laminin_G_2; Laminin G domain
XM_006529217.5 → XP_006529280.1 protein crumbs homolog 1 isoform X1

UniProtKB/TrEMBL

A0A0G2JDY0, A0A7D6VRP0

Conserved Domains (4) summary

smart00179
Location:335 → 376

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:224 → 259

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:113 → 143

EGF; EGF-like domain

pfam02210
Location:452 → 587

Laminin_G_2; Laminin G domain
XM_030251879.2 → XP_030107739.1 protein crumbs homolog 1 isoform X8

UniProtKB/TrEMBL

A0A7D6VQV3

Conserved Domains (3) summary

smart00179
Location:64 → 105

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:964 → 1000

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:181 → 316

Laminin_G_2; Laminin G domain
XM_036162484.1 → XP_036018377.1 protein crumbs homolog 1 isoform X10

Conserved Domains (2) summary

cd00054
Location:765 → 801

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:211 → 328

Laminin_G_2; Laminin G domain
XM_006529224.5 → XP_006529287.1 protein crumbs homolog 1 isoform X10

See identical proteins and their annotated locations for XP_006529287.1

Conserved Domains (2) summary

cd00054
Location:765 → 801

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:211 → 328

Laminin_G_2; Laminin G domain
XM_017319069.3 → XP_017174558.1 protein crumbs homolog 1 isoform X2

UniProtKB/TrEMBL

A0A0G2JDY0

Conserved Domains (4) summary

smart00179
Location:396 → 437

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:224 → 259

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:113 → 143

EGF; EGF-like domain

pfam02210
Location:513 → 647

Laminin_G_2; Laminin G domain
XM_036162458.1 → XP_036018351.1 protein crumbs homolog 1 isoform X3

UniProtKB/TrEMBL

A0A0G2JDY0

Related

ENSMUSP00000142552.2, ENSMUST00000198445.5

Conserved Domains (4) summary

smart00179
Location:335 → 376

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:224 → 259

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:113 → 143

EGF; EGF-like domain

pfam02210
Location:452 → 587

Laminin_G_2; Laminin G domain
XM_036162480.1 → XP_036018373.1 protein crumbs homolog 1 isoform X9

UniProtKB/TrEMBL

A0A7D6VQV3

Conserved Domains (3) summary

smart00179
Location:64 → 105

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:964 → 1000

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:181 → 316

Laminin_G_2; Laminin G domain
XM_036162464.1 → XP_036018357.1 protein crumbs homolog 1 isoform X7

UniProtKB/TrEMBL

A0A7D6VQV3

Conserved Domains (4) summary

smart00179
Location:175 → 216

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:64 → 99

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:669 → 698

EGF; EGF-like domain

pfam02210
Location:292 → 427

Laminin_G_2; Laminin G domain
XM_036162460.1 → XP_036018353.1 protein crumbs homolog 1 isoform X5

UniProtKB/TrEMBL

A0A7D6VQV3

Conserved Domains (3) summary

smart00179
Location:236 → 277

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:64 → 99

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:353 → 488

Laminin_G_2; Laminin G domain
XM_036162474.1 → XP_036018367.1 protein crumbs homolog 1 isoform X9

UniProtKB/TrEMBL

A0A7D6VQV3

Conserved Domains (3) summary

smart00179
Location:64 → 105

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:964 → 1000

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:181 → 316

Laminin_G_2; Laminin G domain
XM_036162488.1 → XP_036018381.1 protein crumbs homolog 1 isoform X11

UniProtKB/TrEMBL

A0A7D6VQV3, Q7TSG9

Conserved Domains (2) summary

cd00054
Location:765 → 801

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:211 → 328

Laminin_G_2; Laminin G domain
XM_036162493.1 → XP_036018386.1 protein crumbs homolog 1 isoform X11

UniProtKB/TrEMBL

A0A7D6VQV3, Q7TSG9

Conserved Domains (2) summary

cd00054
Location:765 → 801

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam02210
Location:211 → 328

Laminin_G_2; Laminin G domain

RNA

XR_001783143.3 RNA Sequence
XR_001783142.3 RNA Sequence
XR_004940689.1 RNA Sequence
XR_004940688.1 RNA Sequence
XR_004940699.1 RNA Sequence
XR_004940691.1 RNA Sequence
XR_004940696.1 RNA Sequence
XR_004940690.1 RNA Sequence
XR_004940700.1 RNA Sequence
XR_004940693.1 RNA Sequence
XR_004940703.1 RNA Sequence
XR_004940702.1 RNA Sequence
XR_004940705.1 RNA Sequence
XR_004940701.1 RNA Sequence
XR_004940704.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_180987.1: Suppressed sequence

Description

NM_180987.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.