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CRB1 crumbs cell polarity complex component 1 [ Homo sapiens (human) ]

Gene ID: 23418, updated on 10-Dec-2024

Summary

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Official Symbol
CRB1provided by HGNC
Official Full Name
crumbs cell polarity complex component 1provided by HGNC
Primary source
HGNC:HGNC:2343
See related
Ensembl:ENSG00000134376 MIM:604210; AllianceGenome:HGNC:2343
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; CRB1-A; CRB1-B; CRB1-C
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]
Expression
Biased expression in brain (RPKM 4.0) and testis (RPKM 1.3) See more
Orthologs
mouse all
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Genomic context

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See CRB1 in Genome Data Viewer
Location:
1q31.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197201504..197478455)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196463303..196740260)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197170634..197447585)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1659 Neighboring gene septin 14 pseudogene 12 Neighboring gene assembly factor for spindle microtubules Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:197170170-197170755 Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene ATPase H+ transporting accessory protein 2 pseudogene Neighboring gene uncharacterized LOC124904477 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 3 Neighboring gene DENN domain containing 1B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:197541395-197542594 Neighboring gene MPRA-validated peak643 silencer Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 Neighboring gene RPL24 pseudogene 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis. Yzer S, et al. Invest Ophthalmol Vis Sci, 2006 Sep. PMID 16936081
  2. DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1. Alsulaiman HM, et al. Retin Cases Brief Rep, 2020 Spring. PMID 29200130
  3. Role of the Crumbs proteins in ciliogenesis, cell migration and actin organization. Bazellières E, et al. Semin Cell Dev Biol, 2018 Sep. PMID 29056580
  4. The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. Motta FL, et al. Sci Rep, 2017 Aug 17. PMID 28819299, Free PMC Article
  5. Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy. Jalkh N, et al. Ophthalmic Genet, 2014 Mar. PMID 23362850

See all (114) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
    Title: Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
  2. Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
    Title: Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
  3. Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
    Title: Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
  4. A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
    Title: A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
  5. Foveal Hypoplasia in CRB1-Related Retinopathies.
    Title: Foveal Hypoplasia in CRB1-Related Retinopathies.
  6. CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
    Title: CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
  7. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
    Title: CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
  8. A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
    Title: A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
  9. CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.
    Title: CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.
  10. In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.
    Title: In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.
Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog
Variants of DENND1B associated with asthma in children.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to light stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in detection of light stimulus involved in visual perception IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of bipolar cell polarity involved in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment or maintenance of cell polarity TAS
Traceable Author Statement
more info
 PubMed 
involved_in establishment or maintenance of epithelial cell apical/basal polarity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment or maintenance of epithelial cell apical/basal polarity NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in glial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in photoreceptor cell outer segment organization IEA
Inferred from Electronic Annotation
more info
  
involved_in plasma membrane organization IEA
Inferred from Electronic Annotation
more info
  
involved_in post-embryonic retina morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in retina layer formation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in adherens junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical junction complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in apical plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in glial cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in microvillus IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of protein-containing complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of subapical complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein crumbs homolog 1
Names
crumbs 1, cell polarity complex component
crumbs family member 1, photoreceptor morphogenesis associated

NCBI Reference Sequences (RefSeq)

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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_008483.3 RefSeqGene

    Range
    71750..281953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001180569.1

    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)
    AL136322, AL139136, AL513325
    Consensus CDS
    CCDS53454.1
    UniProtKB/TrEMBL
    A8K118
    Related
    ENSP00000356369.2, ENST00000367399.6
    Conserved Domains (3) summary
    smart00179
    Location:285 → 326
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:148 → 183
    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:402 → 537
    Laminin_G_2; Laminin G domain

  2. NM_001257965.2 → 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)
    AL136322, AL139136, AL356315, AL513325
    Consensus CDS
    CCDS58053.1
    UniProtKB/TrEMBL
    B7Z826, F5H0L2
    Related
    ENSP00000438786.1, ENST00000535699.5
    Conserved Domains (3) summary
    smart00179
    Location:328 → 369
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:79 → 114
    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:445 → 580
    Laminin_G_2; Laminin G domain

  3. NM_001257966.2 → NP_001244895.1  protein crumbs homolog 1 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001244895.1

    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)
    AL136322, AL139136, AL513325
    Consensus CDS
    CCDS58052.1
    UniProtKB/TrEMBL
    A0A7D6VMU1
    Related
    ENSP00000438091.1, ENST00000538660.5
    Conserved Domains (3) summary
    smart00179
    Location:397 → 438
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:148 → 183
    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:514 → 649
    Laminin_G_2; Laminin G domain

  4. NM_201253.3 → NP_957705.1  protein crumbs homolog 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_957705.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL136322, AL139136, AL513325
    Consensus CDS
    CCDS1390.1
    UniProtKB/Swiss-Prot
    A2A308, B7Z5T2, B9EG71, P82279, Q5K3A6, Q5TC28, Q5VUT1, Q6N027, Q8WWY0, Q8WWY1
    UniProtKB/TrEMBL
    A0A7D6VM04, A8K118
    Related
    ENSP00000356370.3, ENST00000367400.8
    Conserved Domains (3) summary
    smart00179
    Location:397 → 438
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:148 → 183
    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:514 → 649
    Laminin_G_2; Laminin G domain

RNA

  1. NR_047563.2 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)
    AL136322, AL139136, AL513325

  2. NR_047564.2 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)
    AL136322, AL139136, AL513325
    Related
    ENST00000484075.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    197201504..197478455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416573.1 → XP_047272529.1  protein crumbs homolog 1 isoform X2

    UniProtKB/TrEMBL
    B7Z826

  2. XM_017000852.2 → XP_016856341.1  protein crumbs homolog 1 isoform X7

    UniProtKB/TrEMBL
    A8K118

  3. XM_011509367.2 → XP_011507669.1  protein crumbs homolog 1 isoform X3

    UniProtKB/TrEMBL
    A8K118
    Conserved Domains (3) summary
    smart00179
    Location:397 → 438
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:148 → 183
    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:514 → 649
    Laminin_G_2; Laminin G domain

  4. XM_047416574.1 → XP_047272530.1  protein crumbs homolog 1 isoform X4

    UniProtKB/TrEMBL
    A8K118

  5. XM_011509365.3 → XP_011507667.1  protein crumbs homolog 1 isoform X1

    UniProtKB/TrEMBL
    A8K118
    Related
    ENSP00000491102.1, ENST00000638467.1
    Conserved Domains (3) summary
    smart00179
    Location:397 → 438
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:148 → 183
    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:514 → 649
    Laminin_G_2; Laminin G domain

  6. XM_047416572.1 → XP_047272528.1  protein crumbs homolog 1 isoform X2

    UniProtKB/TrEMBL
    B7Z826

  7. XM_047416575.1 → XP_047272531.1  protein crumbs homolog 1 isoform X5

    UniProtKB/TrEMBL
    A0A7D6VLH9
    Related
    ENSP00000505267.1, ENST00000681519.1

  8. XM_011509369.3 → XP_011507671.1  protein crumbs homolog 1 isoform X6

    See identical proteins and their annotated locations for XP_011507671.1

    UniProtKB/TrEMBL
    B7Z824
    Conserved Domains (2) summary
    cd00054
    Location:627 → 656
    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:461 → 586
    Laminin_G_2; Laminin G domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    196463303..196740260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335671.1 → XP_054191646.1  protein crumbs homolog 1 isoform X2

    UniProtKB/TrEMBL
    B7Z826

  2. XM_054335676.1 → XP_054191651.1  protein crumbs homolog 1 isoform X7

    UniProtKB/TrEMBL
    A8K118

  3. XM_054335672.1 → XP_054191647.1  protein crumbs homolog 1 isoform X3

    UniProtKB/TrEMBL
    A8K118

  4. XM_054335673.1 → XP_054191648.1  protein crumbs homolog 1 isoform X4

    UniProtKB/TrEMBL
    A8K118

  5. XM_054335669.1 → XP_054191644.1  protein crumbs homolog 1 isoform X1

    UniProtKB/TrEMBL
    A8K118

  6. XM_054335670.1 → XP_054191645.1  protein crumbs homolog 1 isoform X2

    UniProtKB/TrEMBL
    B7Z826

  7. XM_054335674.1 → XP_054191649.1  protein crumbs homolog 1 isoform X5

    UniProtKB/TrEMBL
    A0A7D6VLH9

  8. XM_054335675.1 → XP_054191650.1  protein crumbs homolog 1 isoform X6

    UniProtKB/TrEMBL
    B7Z824

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
Protein Accession Links
GenPept Link UniProtKB Link
P82279.2 GenPept UniProtKB/Swiss-Prot:P82279

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