CRYBG1 (crystallin beta-gamma domain containing 1)

2017-04-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
AIM1,ST4
FUSION GENES

Other Information

Locus ID:

NCBI: 202
MIM: 601797
HGNC: 356
Ensembl: ENSG00000112297

Variants:

dbSNP: 202
ClinVar: 202
TCGA: ENSG00000112297
COSMIC: CRYBG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112297ENST00000369066Q9Y4K1
ENSG00000112297ENST00000457437Q96QW7
ENSG00000112297ENST00000633556A0A0J9YWL0
ENSG00000112297ENST00000651520A0A494C1M5

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191944642009Genomic analyses reveal global functional alterations that promote tumor growth and novel tumor suppressor genes in natural killer-cell malignancies.51
224024382012AIM1 and LINE-1 epigenetic aberrations in tumor and serum relate to melanoma progression and disease outcome.24
227619062012High-throughput transcriptomic and RNAi analysis identifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer.21
240942922013DNMT1 and AIM1 Imprinting in human placenta revealed through a genome-wide screen for allele-specific DNA methylation.21
185824732008Exploring the limits of sequence and structure in a variant betagamma-crystallin domain of the protein absent in melanoma-1 (AIM1).12
199105432010Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.6
221278952012AIM1 promoter hypermethylation as a predictor of decreased risk of recurrence following radical prostatectomy.6
165113232006Crystallization and preliminary X-ray crystallographic investigations on a betagamma-crystallin domain of absent in melanoma 1 (AIM1), a protein from Homo sapiens.2
273788182016Single-molecule Force Spectroscopy Reveals the Calcium Dependence of the Alternative Conformations in the Native State of a βγ-Crystallin Protein.2

Citation

Dessen P

CRYBG1 (crystallin beta-gamma domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56781/crybg1-(crystallin-beta-gamma-domain-containing-1)