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

    Gene ID: 170788, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Crb1 in Genome Data Viewer
    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_000067.7Genomic Context describing neighboring genes Neighboring gene DENN domain containing 1B Neighboring gene STARR-positive B cell enhancer mm9_chr1:141053030-141053331 Neighboring gene predicted gene 16304 Neighboring gene predicted gene, 57793 Neighboring gene STARR-seq mESC enhancer starr_02474 Neighboring gene predicted gene, 41960 Neighboring gene STARR-seq mESC enhancer starr_02475 Neighboring gene STARR-positive B cell enhancer ABC_E3309 Neighboring gene RIKEN cDNA 4933436E23 gene Neighboring gene STARR-seq mESC enhancer starr_02477 Neighboring gene STARR-positive B cell enhancer ABC_E5812 Neighboring gene predicted gene, 34816 Neighboring gene zinc finger and BTB domain containing 41

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    protein crumbs homolog 1
    Names
    crumbs homolog 1

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_133239.2NP_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:396437
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:224259
      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:113143
      EGF; EGF-like domain
      pfam02210
      Location:513648
      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

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      139101288..139307262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A7D6VQV3
      Conserved Domains (3) summary
      smart00179
      Location:64105
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9641000
      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:181316
      Laminin_G_2; Laminin G domain
    2. XM_036162461.1XP_036018354.1  protein crumbs homolog 1 isoform X6

      Conserved Domains (3) summary
      smart00179
      Location:175216
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:6499
      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:292427
      Laminin_G_2; Laminin G domain
    3. XM_030251877.2XP_030107737.1  protein crumbs homolog 1 isoform X4

      Conserved Domains (3) summary
      smart00179
      Location:236277
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:6499
      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:353487
      Laminin_G_2; Laminin G domain
    4. XM_036162487.1XP_036018380.1  protein crumbs homolog 1 isoform X10

      Conserved Domains (2) summary
      cd00054
      Location:765801
      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:211328
      Laminin_G_2; Laminin G domain
    5. XM_006529217.5XP_006529280.1  protein crumbs homolog 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JDY0, A0A7D6VRP0
      Conserved Domains (4) summary
      smart00179
      Location:335376
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:224259
      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:113143
      EGF; EGF-like domain
      pfam02210
      Location:452587
      Laminin_G_2; Laminin G domain
    6. XM_030251879.2XP_030107739.1  protein crumbs homolog 1 isoform X8

      UniProtKB/TrEMBL
      A0A7D6VQV3
      Conserved Domains (3) summary
      smart00179
      Location:64105
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9641000
      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:181316
      Laminin_G_2; Laminin G domain
    7. XM_036162484.1XP_036018377.1  protein crumbs homolog 1 isoform X10

      Conserved Domains (2) summary
      cd00054
      Location:765801
      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:211328
      Laminin_G_2; Laminin G domain
    8. XM_006529224.5XP_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:765801
      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:211328
      Laminin_G_2; Laminin G domain
    9. XM_017319069.3XP_017174558.1  protein crumbs homolog 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JDY0
      Conserved Domains (4) summary
      smart00179
      Location:396437
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:224259
      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:113143
      EGF; EGF-like domain
      pfam02210
      Location:513647
      Laminin_G_2; Laminin G domain
    10. XM_036162458.1XP_036018351.1  protein crumbs homolog 1 isoform X3

      UniProtKB/TrEMBL
      A0A0G2JDY0
      Related
      ENSMUSP00000142552.2, ENSMUST00000198445.5
      Conserved Domains (4) summary
      smart00179
      Location:335376
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:224259
      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:113143
      EGF; EGF-like domain
      pfam02210
      Location:452587
      Laminin_G_2; Laminin G domain
    11. XM_036162480.1XP_036018373.1  protein crumbs homolog 1 isoform X9

      UniProtKB/TrEMBL
      A0A7D6VQV3
      Conserved Domains (3) summary
      smart00179
      Location:64105
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9641000
      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:181316
      Laminin_G_2; Laminin G domain
    12. XM_036162464.1XP_036018357.1  protein crumbs homolog 1 isoform X7

      UniProtKB/TrEMBL
      A0A7D6VQV3
      Conserved Domains (4) summary
      smart00179
      Location:175216
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:6499
      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:669698
      EGF; EGF-like domain
      pfam02210
      Location:292427
      Laminin_G_2; Laminin G domain
    13. XM_036162460.1XP_036018353.1  protein crumbs homolog 1 isoform X5

      UniProtKB/TrEMBL
      A0A7D6VQV3
      Conserved Domains (3) summary
      smart00179
      Location:236277
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:6499
      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:353488
      Laminin_G_2; Laminin G domain
    14. XM_036162474.1XP_036018367.1  protein crumbs homolog 1 isoform X9

      UniProtKB/TrEMBL
      A0A7D6VQV3
      Conserved Domains (3) summary
      smart00179
      Location:64105
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9641000
      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:181316
      Laminin_G_2; Laminin G domain
    15. XM_036162488.1XP_036018381.1  protein crumbs homolog 1 isoform X11

      UniProtKB/TrEMBL
      A0A7D6VQV3, Q7TSG9
      Conserved Domains (2) summary
      cd00054
      Location:765801
      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:211328
      Laminin_G_2; Laminin G domain
    16. XM_036162493.1XP_036018386.1  protein crumbs homolog 1 isoform X11

      UniProtKB/TrEMBL
      A0A7D6VQV3, Q7TSG9
      Conserved Domains (2) summary
      cd00054
      Location:765801
      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:211328
      Laminin_G_2; Laminin G domain

    RNA

    1. XR_001783143.3 RNA Sequence

    2. XR_001783142.3 RNA Sequence

    3. XR_004940689.1 RNA Sequence

    4. XR_004940688.1 RNA Sequence

    5. XR_004940699.1 RNA Sequence

    6. XR_004940691.1 RNA Sequence

    7. XR_004940696.1 RNA Sequence

    8. XR_004940690.1 RNA Sequence

    9. XR_004940700.1 RNA Sequence

    10. XR_004940693.1 RNA Sequence

    11. XR_004940703.1 RNA Sequence

    12. XR_004940702.1 RNA Sequence

    13. XR_004940705.1 RNA Sequence

    14. XR_004940701.1 RNA Sequence

    15. XR_004940704.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_180987.1: Suppressed sequence

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