CHL1 (cell adhesion molecule L1 like)

2003-05-01  

Identity

HGNC
CHL1
LOCATION
3p26.3
LOCUSID
10752
ALIAS
CALL,L1CAM2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10752
MIM: 607416
HGNC: 1939
Ensembl: ENSG00000134121

Variants:

dbSNP: 10752
ClinVar: 10752
TCGA: ENSG00000134121
COSMIC: CHL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134121ENST00000256509O00533
ENSG00000134121ENST00000397491O00533
ENSG00000134121ENST00000421198C9JW79
ENSG00000134121ENST00000427688C9JEY3
ENSG00000134121ENST00000435603C9J905
ENSG00000134121ENST00000445697H7C0J0
ENSG00000134121ENST00000449294C9JH37
ENSG00000134121ENST00000453040F8WEP4
ENSG00000134121ENST00000620033A0A087X0M8

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
CHL1 interactionsREACTOMER-HSA-447041

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
202982002010Confirmed rare copy number variants implicate novel genes in schizophrenia.54
229882402012β-Site amyloid precursor protein (APP)-cleaving enzyme 1 (BACE1)-deficient mice exhibit a close homolog of L1 (CHL1) loss-of-function phenotype involving axon guidance defects.54
226344952012MicroRNA-10a targets CHL1 and promotes cell growth, migration and invasion in human cervical cancer cells.47
119869852002An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia.37
119869852002An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia.37
242881792014MicroRNA-590 promotes cervical cancer cell growth and invasion by targeting CHL1.36
165976992006MAP kinase pathway-dependent phosphorylation of the L1-CAM ankyrin binding site regulates neuronal growth.31
214082202011Differential expression of CHL1 gene during development of major human cancers.31
229092032012Genome-wide miRNA expression profiling of human lymphoblastoid cell lines identifies tentative SSRI antidepressant response biomarkers.31

Citation

Dessen P

CHL1 (cell adhesion molecule L1 like)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40076/chl1