CRB1

GENE INFORMATION

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Gene name

CRB1 (HGNC Symbol)

Synonyms

LCA8, RP12

Description

Crumbs homolog 1 (Drosophila) (HGNC Symbol)

Entrez gene 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]

Chromosome

1

Cytoband

q31.3

Chromosome location (bp)

197170592 - 197447585

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134376 (version 75.37)

Entrez gene

23418

UniProt

P82279 (UniProt - Evidence at protein level)

neXtProt

NX_P82279

Antibodypedia

CRB1 antibodies
 

PROTEIN VIEW

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CRB1-001
 
CRB1-002
 
CRB1-003
 
CRB1-004
 
CRB1-005
 
CRB1-201
 
CRB1-202
 
CRB1-203
 
CRB1-204
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CRB1-001 ENSP00000433932
ENST00000484075
P82279
Show all »
Show » Show » 1376 151.4 Yes 0
CRB1-002 ENSP00000395407
ENST00000448952
P82279
Show all »
Show » Show » 42 4.6 No 0
CRB1-003 ENSP00000356367
ENST00000367397
Show » Show » 674 74.7 No 0
CRB1-004 ENSP00000356370
ENST00000367400
P82279
Show all »
Show » Show » 1406 154.2 Yes 1
CRB1-005 ENSP00000356369
ENST00000367399
P82279
Show all »
Show » Show » 1294 142.1 Yes 1
CRB1-201 ENSP00000438786
ENST00000535699
F5H0L2
Show all »
Show » Show » 1382 151.2 No 1
CRB1-202 ENSP00000438091
ENST00000538660
P82279
Show all »
Show » Show » 870 95 Yes 1
CRB1-203 ENSP00000439579
ENST00000543483
F5H1K8
Show all »
Show » Show » 293 32.3 No 0
CRB1-204 ENSP00000444556
ENST00000544212
B7Z824
Show all »
Show » Show » 887 98 No 1