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    CRB1 crumbs homolog 1 (Drosophila) [ Homo sapiens (human) ]

    Gene ID: 23418, updated on 22-May-2013
    Official Symbol
    CRB1provided by HGNC
    Official Full Name
    crumbs homolog 1 (Drosophila)provided by HGNC
    Primary source
    HGNC:2343
    Locus tag
    RP11-53I24.1
    See related
    Ensembl:ENSG00000134376; HPRD:05019; MIM:604210; Vega:OTTHUMG00000035663
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCA8; RP12
    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]
    Location :
    1q31-q32.1
    Sequence :
    Chromosome: 1; NC_000001.10 (197170592..197447585)
    See CRB1 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene asp (abnormal spindle) homolog, microcephaly associated (Drosophila) Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene ATPase, H+ transporting, lysosomal accessory protein 2 pseudogene Neighboring gene mitochondrial ribosomal protein S21 pseudogene 3 Neighboring gene DENN/MADD domain containing 1B Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 Neighboring gene ribosomal protein L24 pseudogene 5

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations. Beryozkin A, et al. Invest Ophthalmol Vis Sci, 2013 Mar 1. PMID 23449718.
    2. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. Paun CC, et al. Mol Vis, 2012. PMID 23077403.
    3. Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene. Alves CH, et al. Hum Mol Genet, 2013 Jan 1. PMID 23001562.
    4. Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa. Paterson RL, et al. Mol Vis, 2012. PMID 22876132.
    5. Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. Strom SP, et al. BMC Med Genet, 2012 Aug 3. PMID 22863181.

    See all (48) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. there is no clear genotype-phenotype correlation for CRB1 mutations, which suggests that other components of the CRB complex may influence the severity of retinal disease
      Title: Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.
    2. we showed that mutations in CRB1 are a common cause of eary onset retinal degeneration among the Jewish and Arab-Muslim populations in Israel and the Palestinian Territories
      Title: Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
    3. A novel homozygous missense mutation (p.Gly833Asp) in the CRB1 gene is responsible for retinitis pigmentosa, nanophthalmos, and optic disc drusen in a Turkish family.
      Title: A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
    4. CRB1 (c.2548 G>A) is the likely disease-causing gene in one non-consanguineous Australian pedigree with autosomal recessive retinitis pigmentosa.
      Title: Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
    5. Mutation in CRB1 gene is associated with Stargardt Disease.
      Title: Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
    6. A review of seven novel mutations and classification of over 150 reported CRB1 sequence variants that were found in more that 240 patients with inherited retinal dystrophies.
      Title: CRB1 mutations in inherited retinal dystrophies.
    7. Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly.
      Title: Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
    8. CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages.
      Title: Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.
    9. Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies, including Leber congenital amaurosis, childhood- and juvenile-onset rod-cone and cone-rod dystrophies.
      Title: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
    10. The corneas of human carriers of CRB1 mutations display shape deviations compared with what has been observed in normal individuals
      Title: The role of crumbs genes in the vertebrate cornea.
    Submit: New GeneRIF Correction See all (24)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Retinitis pigmentosa 12

    Summary from GeneReviews: Retinitis Pigmentosa Overview Go to GeneReviews

    Disease Characteristics
    Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease.
    Diagnosis Testing
    The diagnosis of RP relies on documentation of progressive loss in photoreceptor function by electroretinography (ERG) and visual field testing. Mutations in more than 50 different genes or loci are known to cause nonsyndromic RP. Molecular genetic testing is available on a clinical basis for many RP- related genes. For all other genes, molecular genetic testing is available on a research basis only.
    Genetic Counseling
    The mode of inheritance of RP is determined by family history and, in some instances, by molecular genetic testing. RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Females with an X-linked RP mutation may be unaffected or may show clinical symptoms. Such affected females are usually (but not always) less severely affected than males of the same age. Some digenic and mitochondrial forms have also been described. Genetic counseling depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:116990 BioGRID:106715 ALB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116990 BioGRID:108433 EXT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116990 BioGRID:111691 PSMD13    BioGRID  PubMed Affinity Capture-MS 
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    establishment or maintenance of cell polarity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    eye photoreceptor cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    microvillus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    protein crumbs homolog 1
    Names
    protein crumbs homolog 1

    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.

    Genomic

    1. NG_008483.1 RefSeqGene

      Range
      4927..215178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193640.1 → NP_001180569.1  protein crumbs homolog 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AJ748821, AY043325, DC370545, DC370777
      Consensus CDS
      CCDS53454.1
      UniProtKB/Swiss-Prot
      P82279
      Related
      ENSP00000356369, OTTHUMP00000180665, ENST00000367399, OTTHUMT00000280653
      Conserved Domains (2) summary
      cd00054
      Location:148 – 184
      Blast Score: 109
      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 ...
      cd00110
      Location:373 – 537
      Blast Score: 190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    2. NM_001257965.1 → NP_001244894.1  protein crumbs homolog 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains three noncoding exons in place of the first exon and contains an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter at the N- terminus and contains an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AK289733, AK302826, AL136322, AY043325
      Consensus CDS
      CCDS58053.1
      UniProtKB/TrEMBL
      A8K118
      UniProtKB/TrEMBL
      B7Z826
      UniProtKB/TrEMBL
      F5H0L2
      UniProtKB/Swiss-Prot
      P82279
      Related
      ENSP00000438786, ENST00000535699
      Conserved Domains (2) summary
      cd00054
      Location:79 – 115
      Blast Score: 109
      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 ...
      cd00110
      Location:416 – 580
      Blast Score: 190
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    3. NM_001257966.1 → NP_001244895.1  protein crumbs homolog 1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame segment of two coding exons and most of a third compared to variant 1. The resulting isoform (4) has the same N- and C-termini but lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AK299368, AL513325, AY043325, DC370545
      Consensus CDS
      CCDS58052.1
      UniProtKB/Swiss-Prot
      P82279
      Related
      ENSP00000438091, ENST00000538660
      Conserved Domains (3) summary
      cd00054
      Location:148 – 184
      Blast Score: 100
      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 ...
      cd00110
      Location:485 – 649
      Blast Score: 199
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cl09941
      Location:677 – 707
      Blast Score: 77
      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 ...

    4. NM_201253.2 → NP_957705.1  protein crumbs homolog 1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AY043325, BC136271, DC370545, DC370777
      Consensus CDS
      CCDS1390.1
      UniProtKB/Swiss-Prot
      P82279
      Related
      ENSP00000356370, OTTHUMP00000033690, ENST00000367400, OTTHUMT00000086565
      Conserved Domains (3) summary
      cd00054
      Location:148 – 184
      Blast Score: 107
      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 ...
      cd00110
      Location:485 – 649
      Blast Score: 192
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cl09941
      Location:397 – 438
      Blast Score: 115
      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 ...

    RNA

    1. NR_047563.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate internal segment of a coding exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is thought to be non-protein coding.
      Source sequence(s)
      AL513325, AY043325, BC143726, DC370545

    2. NR_047564.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction at the 3' end of a coding exon compared to variant 1, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is thought to be non-protein coding.
      Source sequence(s)
      AL513325, AY043324, DC370545

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p10 Primary Assembly

      Range
      197170592..197447585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      168328124..168606472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018912.1 Alternate CHM1_1.0

      Range
      203711454..203988596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_012076.2: Suppressed sequence

      Description
      NM_012076.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01027591.1 (4134..62747) None
    genomic ABBA01027592.1 None
    genomic ABBA01027593.1 None
    genomic ABBA01027594.1 None
    genomic ABBA01027595.1 None
    genomic ABBA01027596.1 None
    genomic AL136322.24 None
    genomic AL139136.17 (2001..6195) None
    genomic AL356315.12 (26605..34560) None
    genomic AL513325.13 (2001..210889) None
    genomic AMYH01001618.1 (918227..969324) None
    genomic AMYH01001619.1 None
    genomic AMYH01001620.1 None
    genomic AMYH01001621.1 None
    genomic CH471067.1 EAW91277.1
    mRNA AB208923.1 BAD92160.1
    mRNA AF154671.1 AAF01361.1
    mRNA AJ748821.1 CAG38658.1
    mRNA AK289733.1 BAF82422.1
    mRNA AK299367.1 BAH13017.1
    mRNA AK299368.1 BAH13018.1
    mRNA AK302818.1 BAH13810.1
    mRNA AK302826.1 BAH13812.1
    mRNA AK307844.1 None
    mRNA AY043323.1 AAL10680.1
    mRNA AY043324.1 AAL10681.1
    mRNA AY043325.1 AAL10682.1
    mRNA BC136271.1 AAI36272.1
    mRNA BC143726.1 None
    mRNA BX640729.1 CAE45845.1
    mRNA DC370545.1 None
    mRNA DC370777.1 None
    mRNA AY043322.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    P82279.2 GenPept UniProtKB/Swiss-Prot:P82279

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Link to related EST entry
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        Full text in PubMedCentral identified from shared sequence links
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        PubChem Substances
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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
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        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
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        Related SNP records
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        Link to related taxonomy entry
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        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
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        Related UniSTS records

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