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

    Gene ID: 23418, updated on 3-Jul-2016
    Official Symbol
    CRB1provided by HGNC
    Official Full Name
    crumbs 1, cell polarity complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:2343
    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]
    Orthologs
    Location:
    1q31.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (197201462..197478455)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197170592..197447585)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene abnormal spindle microtubule assembly Neighboring gene septin 14 pseudogene 12 Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene ATPase H+ transporting accessory protein 2 pseudogene Neighboring gene mitochondrial ribosomal protein S21 pseudogene 3 Neighboring gene DENN domain containing 1B Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 Neighboring gene ribosomal protein L24 pseudogene 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Leber congenital amaurosis 8
    MedGen: C3151202 OMIM: 613835 GeneReviews: Not available
    Compare labs
    Pigmented paravenous chorioretinal atrophy
    MedGen: C1868310 OMIM: 172870 GeneReviews: Not available
    Compare labs
    Retinitis pigmentosa 12
    MedGen: C1838647 OMIM: 600105 GeneReviews: Retinitis Pigmentosa Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog
    Variants of DENND1B associated with asthma in children.
    NHGRI GWA Catalog
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein crumbs homolog 1
    Names
    crumbs family member 1, photoreceptor morphogenesis associated

    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_008483.2 RefSeqGene

      Range
      71743..281994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193640.1NP_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)
      AJ748821, AY043325, DC370545, DC370777
      Consensus CDS
      CCDS53454.1
      UniProtKB/Swiss-Prot
      P82279
      Related
      ENSP00000356369, OTTHUMP00000180665, ENST00000367399, OTTHUMT00000280653
      Conserved Domains (2) summary
      cd00054
      Location:148183
      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:373537
      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_001257965.1NP_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/Swiss-Prot
      P82279
      UniProtKB/TrEMBL
      A8K118, B7Z826, F5H0L2
      Related
      ENSP00000438786, ENST00000535699
      Conserved Domains (2) summary
      cd00054
      Location:79114
      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:416580
      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_001257966.1NP_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)
      AK299368, AL513325, AY043325, DC370545
      Consensus CDS
      CCDS58052.1
      UniProtKB/Swiss-Prot
      P82279
      Related
      ENSP00000438091, ENST00000538660
      Conserved Domains (2) summary
      cd00054
      Location:148183
      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:485649
      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 ...
    4. NM_201253.2NP_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)
      AY043325, BC136271, DC370545, DC370777
      Consensus CDS
      CCDS1390.1
      UniProtKB/Swiss-Prot
      P82279
      Related
      ENSP00000356370, OTTHUMP00000033690, ENST00000367400, OTTHUMT00000086565
      Conserved Domains (2) summary
      cd00054
      Location:148183
      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:485649
      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 ...

    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
      Related
      ENST00000484075, OTTHUMT00000086562

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      197201462..197478455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000852.1XP_016856341.1  

    2. XM_011509367.1XP_011507669.1  

      Conserved Domains (2) summary
      cd00054
      Location:148183
      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:485649
      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. XM_011509365.2XP_011507667.1  

      Conserved Domains (2) summary
      cd00054
      Location:148183
      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:485649
      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 ...
    4. XM_017000851.1XP_016856340.1  

    5. XM_011509369.2XP_011507671.1  

      See identical proteins and their annotated locations for XP_011507671.1

      UniProtKB/TrEMBL
      B7Z824
      Conserved Domains (2) summary
      cd00054
      Location:627656
      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:433583
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      198593055..198870040
      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.