CRYL1 (crystallin lambda 1)

2014-08-01  

Identity

HGNC
CRYL1
LOCATION
13q12.11
LOCUSID
51084
ALIAS
GDH,HEL30,gul3DH,lambda-CRY
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51084
MIM: 609877
HGNC: 18246
Ensembl: ENSG00000165475

Variants:

dbSNP: 51084
ClinVar: 51084
TCGA: ENSG00000165475
COSMIC: CRYL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165475ENST00000298248Q9Y2S2
ENSG00000165475ENST00000298248V9HWG2
ENSG00000165475ENST00000382812Q9Y2S2
ENSG00000165475ENST00000382812A0A024RDM2
ENSG00000165475ENST00000480748A0A087WW38
ENSG00000165475ENST00000643035A0A2R8Y7B4
ENSG00000165475ENST00000643750Q9Y2S2
ENSG00000165475ENST00000643750A0A024RDM2
ENSG00000165475ENST00000643887A0A2R8YFQ7
ENSG00000165475ENST00000644153A0A2R8Y5S5
ENSG00000165475ENST00000644167A0A2R8YCZ4
ENSG00000165475ENST00000644593A0A2R8Y4K2
ENSG00000165475ENST00000646414A0A2R8Y699

Expression (GTEx)

0
50
100
150
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
Pentose and glucuronate interconversionsKEGGko00040
Pentose and glucuronate interconversionsKEGGhsa00040
Metabolic pathwaysKEGGhsa01100
Glucuronate pathway (uronate pathway)KEGGM00014
Glucuronate pathway (uronate pathway)KEGGhsa_M00014
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Catabolism of glucuronate to xylulose-5-phosphateREACTOMER-HSA-5661270

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
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
376838902023Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.0
376838902023Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.0
284895702017Transcriptome profiling identifies a recurrent CRYL1-IFT88 chimeric transcript in hepatocellular carcinoma.8
284895702017Transcriptome profiling identifies a recurrent CRYL1-IFT88 chimeric transcript in hepatocellular carcinoma.8
31705921988Lambda-crystallin, a major rabbit lens protein, is related to hydroxyacyl-coenzyme A dehydrogenases.8
31705921988Lambda-crystallin, a major rabbit lens protein, is related to hydroxyacyl-coenzyme A dehydrogenases.8

Citation

Dessen P

CRYL1 (crystallin lambda 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54240/gene-fusions/teaching-explorer/css/template-nav.css