LELP1 (late cornified envelope like proline rich 1)

2014-11-01  

Identity

HGNC
LELP1
LOCATION
1q21.3
LOCUSID
149018
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 149018
MIM: 611042
HGNC: 32046
Ensembl: ENSG00000203784

Variants:

dbSNP: 149018
ClinVar: 149018
TCGA: ENSG00000203784
COSMIC: LELP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203784ENST00000368747Q5T871

Expression (GTEx)

0
500
1000
1500
2000
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
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

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
273040822017Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype.18
273040822017Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype.18
266080702016Association of a Single Nucleotide Polymorphism in a Late Cornified Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis.8
266080702016Association of a Single Nucleotide Polymorphism in a Late Cornified Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis.8
173875792007Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels.8
173875792007Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels.8

Citation

Dessen P

LELP1 (late cornified envelope like proline rich 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65226/js/case-report-explorer/