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CRB1 crumbs family member 1, photoreceptor morphogenesis associated [ Homo sapiens (human) ]

Gene ID: 23418, updated on 12-May-2015
Official Symbol
CRB1provided by HGNC
Official Full Name
crumbs family member 1, photoreceptor morphogenesis associatedprovided 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
See CRB1 in MapViewer
Location:
1q31.3
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 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 uncharacterized LOC105371676 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

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
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_001193640.1NP_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/TrEMBL
    A8K118
    UniProtKB/TrEMBL
    B7Z826
    UniProtKB/TrEMBL
    F5H0L2
    UniProtKB/Swiss-Prot
    P82279
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011509368.1XP_011507670.1  

    Conserved Domains (2) summary
    cd00054
    Location:203230
    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:291455
    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. XM_011509366.1XP_011507668.1  

    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_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 ...
  4. XM_011509365.1XP_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 ...
  5. XM_011509369.1XP_011507671.1  

    See identical proteins and their annotated locations for XP_011507671.1

    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.