CRB1

GENERAL INFORMATION

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Gene name

CRB1

Gene description

Crumbs family member 1, photoreceptor morphogenesis associated

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (cerebral cortex, testis)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus, testis)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (cerebral cortex, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus, testis)

Organ

Expression



GENE INFORMATION

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Gene name

CRB1 (HGNC Symbol)

Synonyms

LCA8, RP12

Description

Crumbs family member 1, photoreceptor morphogenesis associated (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)

197268204 - 197478455

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134376 (version 78.38)

Entrez gene

23418

UniProt

P82279 (UniProt - Evidence at protein level)

neXtProt

NX_P82279

Antibodypedia

CRB1 antibodies


PROTEIN BROWSER

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ENST00000367397
 
ENST00000367399
 
ENST00000367400
 
ENST00000448952
 
ENST00000535699
 
ENST00000538660
 
 
 
 


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)

CRB1-002 ENSP00000395407
ENST00000448952
P82279
Show all »
Show » Show » 42 4.6 No 0
CRB1-003 ENSP00000356367
ENST00000367397
A0A075B6G4
Show all »
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