ECE1

GENERAL INFORMATION

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Gene name

ECE1

Gene description

Endothelin converting enzyme 1

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in all cell types.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA001490 , HPA013616
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ECE1 (HGNC Symbol)

Synonyms

ECE

Description

Endothelin converting enzyme 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]

Chromosome

1

Cytoband

p36.12

Chromosome location (bp)

21217247 - 21345504

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117298 (version 78.38)

Entrez gene

1889

UniProt

P42892 (UniProt - Evidence at protein level)

neXtProt

NX_P42892

Antibodypedia

ECE1 antibodies


PROTEIN BROWSER

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ENST00000264205
 
ENST00000357071
 
ENST00000374893
 
ENST00000415912
 
ENST00000436918
 
ENST00000473505
 
ENST00000481130
 
ENST00000527991
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ECE1-001 ENSP00000405088
ENST00000415912
P42892
Show all »
Show » Show » 754 85.6 No 1
ECE1-002 ENSP00000364028
ENST00000374893
P42892
Show all »
Show » Show » 770 87.2 No 1
ECE1-005 ENSP00000349581
ENST00000357071
P42892
Show all »
Show » Show » 758 85.8 No 1
ECE1-006 ENSP00000264205
ENST00000264205
P42892
Show all »
Show » Show » 767 87 No 1
ECE1-007 ENSP00000431856
ENST00000473505
E9PJG1
Show all »
Show » Show » 77 8.8 No 0
ECE1-008 ENSP00000388439
ENST00000436918
B4DKB2
Show all »
Show » Show » 738 83.6 No 1
ECE1-010 ENSP00000436633
ENST00000481130
E9PHZ1
Show all »
Show » Show » 134 14.5 No 1
ECE1-011 ENSP00000432860
ENST00000527991
E9PN99
Show all »
Show » Show » 103 11.1 No 1