CRB1 (crumbs cell polarity complex component 1)

2009-10-01  

Identity

HGNC
CRB1
LOCATION
1q31.3
LOCUSID
23418
ALIAS
CRB1-A,CRB1-B,CRB1-C,LCA8,RP12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23418
MIM: 604210
HGNC: 2343
Ensembl: ENSG00000134376

Variants:

dbSNP: 23418
ClinVar: 23418
TCGA: ENSG00000134376
COSMIC: CRB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134376ENST00000367397A0A075B6G4
ENSG00000134376ENST00000367399P82279
ENSG00000134376ENST00000367400P82279
ENSG00000134376ENST00000448952A0A0C4DG35
ENSG00000134376ENST00000484075P82279
ENSG00000134376ENST00000535699F5H0L2
ENSG00000134376ENST00000538660P82279
ENSG00000134376ENST00000638467P82279

Expression (GTEx)

0
1
2
3
4
5
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
118506242002Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres.80
177242182007Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.60
154599562004CRB1 mutation spectrum in inherited retinal dystrophies.57
112317752001Mutations in the CRB1 gene cause Leber congenital amaurosis.55
220655452012CRB1 mutations in inherited retinal dystrophies.52
217575802011Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.46
208161952010Analyses of shared genetic factors between asthma and obesity in children.43
165050552006Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.38
209562732011Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.37
162722592005Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.33

Citation

Dessen P

CRB1 (crumbs cell polarity complex component 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-10-01

Online version: http://atlasgeneticsoncology.org/gene/51146/crb1-(crumbs-cell-polarity-complex-component-1)