ECEL1 (endothelin converting enzyme like 1)

2014-11-01  

Identity

HGNC
ECEL1
LOCATION
2q37.1
LOCUSID
9427
ALIAS
DA5D,DINE,ECEX,XCE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9427
MIM: 605896
HGNC: 3147
Ensembl: ENSG00000171551

Variants:

dbSNP: 9427
ClinVar: 9427
TCGA: ENSG00000171551
COSMIC: ECEL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171551ENST00000304546O95672
ENSG00000171551ENST00000409941O95672
ENSG00000171551ENST00000411860H7C3M0

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
hypothalamus
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
181922742008Neuronal injury-inducible gene is synergistically regulated by ATF3, c-Jun, and STAT3 through the interaction with Sp1 in damaged neurons.32
232613012013Mutations in ECEL1 cause distal arthrogryposis type 5D.20
232360302013The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.15
238085922014Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.5
238291712014Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.5
257085842015ECEL1 mutation causes fetal arthrogryposis multiplex congenita.5
296636392018A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.2
251739002014The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.1

Citation

Dessen P

ECEL1 (endothelin converting enzyme like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62711/ecel1