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] See more...

Aliases for ECE1 Gene

Aliases for ECE1 Gene

  • Endothelin Converting Enzyme 1 2 3 5
  • Endothelin-Converting Enzyme 1 3 4
  • EC 3.4.24.71 4 51
  • ECE-1 3 4
  • EC 3.4.24 51
  • ECE1 5
  • ECE 3

External Ids for ECE1 Gene

Previous HGNC Symbols for ECE1 Gene

  • ECE

Previous GeneCards Identifiers for ECE1 Gene

  • GC01M021116
  • GC01M020581
  • GC01M020692
  • GC01M021015
  • GC01M021290
  • GC01M021417
  • GC01M021543
  • GC01M019789

Summaries for ECE1 Gene

Entrez Gene Summary for ECE1 Gene

  • 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]

GeneCards Summary for ECE1 Gene

ECE1 (Endothelin Converting Enzyme 1) is a Protein Coding gene. Diseases associated with ECE1 include Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction and Hypertension, Essential. Among its related pathways are Signaling by GPCR and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and endopeptidase activity. An important paralog of this gene is ECE2.

UniProtKB/Swiss-Prot Summary for ECE1 Gene

Gene Wiki entry for ECE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECE1 Gene

Genomics for ECE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ECE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECE1

Top Transcription factor binding sites by QIAGEN in the ECE1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E47
  • Hand1
  • POU2F1
  • POU2F1a

Genomic Locations for ECE1 Gene

Genomic Locations for ECE1 Gene
chr1:21,217,247-21,345,572
(GRCh38/hg38)
Size:
128,326 bases
Orientation:
Minus strand
chr1:21,543,740-21,672,034
(GRCh37/hg19)
Size:
128,295 bases
Orientation:
Minus strand

Genomic View for ECE1 Gene

Genes around ECE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECE1 Gene

Proteins for ECE1 Gene

  • Protein details for ECE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42892-ECE1_HUMAN
    Recommended name:
    Endothelin-converting enzyme 1
    Protein Accession:
    P42892
    Secondary Accessions:
    • A8K3P1
    • B4E291
    • Q14217
    • Q17RN5
    • Q2Z2K8
    • Q58GE7
    • Q5THM5
    • Q5THM7
    • Q5THM8
    • Q9UJQ6
    • Q9UPF4
    • Q9UPM4
    • Q9Y501

    Protein attributes for ECE1 Gene

    Size:
    770 amino acids
    Molecular mass:
    87164 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:18992253). Interacts with PPP1R16B (By similarity).
    SequenceCaution:
    • Sequence=AAX35820.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA84548.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ECE1 Gene

    Alternative splice isoforms for ECE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECE1 Gene

Selected DME Specific Peptides for ECE1 Gene

P42892:
  • EIKKAFEESLSTLKWMDE
  • LLAAGLVACL
  • HAFDDQG
  • APFYTRSSP
  • FAQVWCSVRTPESSHEGLITDPHSPSRFRVIGS
  • LGGWNITG
  • QLRKAPNRDQWSMTPPMVNAYYSPTKNEIVFPAGIL
  • AYRAYQN
  • WNLVRKTSSFLDQRFQDADEKFMEVMYGTKKTC
  • KDNFQDTLQVVT
  • GQRCWAART
  • LGLPSRDYY
  • SNSKEFSEHF
  • FPAGILQ
  • SAKEKADAIYNMIGYPNFIMDPKELDKVFNDYTAVPDLY
  • TLGENIADNGG
  • VDQSGLGLPSRDYYLNKTENEKVL

Post-translational modifications for ECE1 Gene

  • Glycosylation at Asn166, Asn187, Asn210, Asn270, Asn316, Asn362, Asn383, Asn539, Asn632, and Asn651
  • Ubiquitination at Lys676
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for ECE1 Gene

Gene Families for ECE1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ECE1 Gene

InterPro:
Blocks:
  • Neprilysin metalloprotease (M13) family signature
  • Peptidase M13
ProtoNet:

Suggested Antigen Peptide Sequences for ECE1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59212, highly similar to Endothelin-converting enzyme 1 (EC 3.4.24.71) (B4DKB2_HUMAN)
  • Endothelin-converting enzyme 1 (ECE1_HUMAN)
  • Endothelin-converting enzyme-1c (Q2Z2K8_HUMAN)
  • Endothelin converting enzyme 1 (Q5THM6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42892

UniProtKB/Swiss-Prot:

ECE1_HUMAN :
  • Belongs to the peptidase M13 family.
Family:
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with ECE1: view

Function for ECE1 Gene

Molecular function for ECE1 Gene

UniProtKB/Swiss-Prot Function:
Converts big endothelin-1 to endothelin-1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of the 21-Trp-|-Val-22 bond in big endothelin to form endothelin 1.; EC=3.4.24.71;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphoramidon (PubMed:18992253). Activated by K49-P1-20, a twenty-residue synthetic peptide shortened from the snake B.asper myotoxin II (PubMed:26931059).
GENATLAS Biochemistry:
endothelin converting enzyme 1,converting the precursor big ET-1 to mature ET-1 (EDN1),metallopeptidase,neutral endopeptidase family,homolog to MME,including four isoforms ECE1A,ECE1B,ECE1C,ECE1D,diverging in their N terminal sequence and displaying different patterns of subcellular localization

Enzyme Numbers (IUBMB) for ECE1 Gene

Phenotypes From GWAS Catalog for ECE1 Gene

Gene Ontology (GO) - Molecular Function for ECE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 7805846
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with ECE1: view
genes like me logo Genes that share phenotypes with ECE1: view

Human Phenotype Ontology for ECE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ECE1 Gene

MGI Knock Outs for ECE1:

Animal Model Products

CRISPR Products

miRNA for ECE1 Gene

miRTarBase miRNAs that target ECE1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECE1

Clone Products

  • Addgene plasmids for ECE1

No data available for Transcription Factor Targets and HOMER Transcription for ECE1 Gene

Localization for ECE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECE1 Gene

Cell membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECE1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
endosome 4
lysosome 4
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ECE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IDA 18039931
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IDA 9449382
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ECE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ECE1 Gene

Pathways & Interactions for ECE1 Gene

genes like me logo Genes that share pathways with ECE1: view

Pathways by source for ECE1 Gene

SIGNOR curated interactions for ECE1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ECE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling IMP 18039931
GO:0003100 regulation of systemic arterial blood pressure by endothelin IC 7805846
GO:0006508 proteolysis IEA --
GO:0007507 heart development IMP 9915973
GO:0010814 substance P catabolic process IDA 18039931
genes like me logo Genes that share ontologies with ECE1: view

Drugs & Compounds for ECE1 Gene

(16) Drugs for ECE1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
5-(2-hydroxyethyl)nonane-1,9-diol Experimental Pharma Target 0
Daglutril Investigational Pharma 0
(2S)-2-(2-BENZYL-3-{[(1R)-1-{[(BENZYLOXY)CARBONYL]AMINO}-2-PHENYLETHYL](HYDROXY)PHOSPHORYL}PROPANAMIDO)-3-(1H-INDOL-3-YL)PROPANOIC ACID Pharma 0
KC-12615 Pharma 0

(13) Additional Compounds for ECE1 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SM19712
Inhibitor, Inhibition
genes like me logo Genes that share compounds with ECE1: view

Transcripts for ECE1 Gene

mRNA/cDNA for ECE1 Gene

4 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECE1

Clone Products

  • Addgene plasmids for ECE1

Alternative Splicing Database (ASD) splice patterns (SP) for ECE1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17 ^
SP1: - - - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6: -
SP7:
SP8:

ExUns: 18 ^ 19a · 19b ^ 20a · 20b · 20c
SP1: -
SP2: -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ECE1 Gene

GeneLoc Exon Structure for
ECE1

Expression for ECE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ECE1 Gene

Protein differential expression in normal tissues from HIPED for ECE1 Gene

This gene is overexpressed in Testis (18.9) and Peripheral blood mononuclear cells (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ECE1 Gene



Protein tissue co-expression partners for ECE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ECE1

SOURCE GeneReport for Unigene cluster for ECE1 Gene:

Hs.195080

mRNA Expression by UniProt/SwissProt for ECE1 Gene:

P42892-ECE1_HUMAN
Tissue specificity: All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney.

Evidence on tissue expression from TISSUES for ECE1 Gene

  • Nervous system(4.9)
  • Blood(4.6)
  • Heart(4.6)
  • Liver(4.5)
  • Lung(4.1)
  • Intestine(3.3)
  • Muscle(3.2)
  • Kidney(3.2)
  • Pancreas(2.9)
  • Skin(2.9)
  • Eye(2.8)
  • Adrenal gland(2.6)
  • Spleen(2.3)
  • Stomach(2.2)
  • Thyroid gland(2.2)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ECE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • penis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ECE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ECE1 Gene

Orthologs for ECE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ECE1 30 31
  • 98.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ECE1 30 31
  • 91.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ECE1 30 31
  • 89.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ece1 30
  • 89.6 (n)
Mouse
(Mus musculus)
Mammalia Ece1 30 17 31
  • 88.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ECE1 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ECE1 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ECE-1 31
  • 83 (a)
OneToOne
ECE1 30
  • 78.65 (n)
Lizard
(Anolis carolinensis)
Reptilia ECE1 31
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ece1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ece1 30 31
  • 68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007796 30
  • 55.99 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nep3 30 31 32
  • 54.83 (n)
OneToMany
CG6265 32
  • 48 (a)
Nep1 32
  • 40 (a)
Nep2 32
  • 38 (a)
Nep4 32
  • 38 (a)
BcDNA:GH07188 32
  • 28 (a)
CG14527 32
  • 27 (a)
CG14528 32
  • 26 (a)
CG8358 32
  • 26 (a)
CG5527 32
  • 25 (a)
CG14529 32
  • 24 (a)
CG15485 32
  • 24 (a)
CG14523 32
  • 23 (a)
CG4721 32
  • 23 (a)
CG4725 32
  • 22 (a)
Worm
(Caenorhabditis elegans)
Secernentea T05A8.4 32
  • 36 (a)
F26G1.6 32
  • 31 (a)
T16A9.4 32
  • 31 (a)
nep-12 31
  • 30 (a)
ManyToMany
nep-21 31
  • 29 (a)
ManyToMany
F39E9.4 32
  • 29 (a)
F54F11.2 32
  • 28 (a)
T25B6.2 32
  • 26 (a)
F18A12.6 32
  • 25 (a)
C49D10.10 32
  • 24 (a)
nep-3 31
  • 23 (a)
ManyToMany
F18A12.1 32
  • 23 (a)
K02F6.9 32
  • 22 (a)
nep-13 31
  • 21 (a)
ManyToMany
nep-22 31
  • 21 (a)
ManyToMany
nep-6 31
  • 21 (a)
ManyToMany
nep-10 31
  • 20 (a)
ManyToMany
nep-18 31
  • 19 (a)
ManyToMany
nep-8 31
  • 18 (a)
ManyToMany
nep-23 31
  • 18 (a)
ManyToMany
nep-24 31
  • 18 (a)
ManyToMany
nep-7 31
  • 18 (a)
ManyToMany
nep-9 31
  • 17 (a)
ManyToMany
nep-5 31
  • 17 (a)
ManyToMany
nep-20 31
  • 16 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for ECE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ECE1 Gene

ENSEMBL:
Gene Tree for ECE1 (if available)
TreeFam:
Gene Tree for ECE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ECE1: view image

Paralogs for ECE1 Gene

Paralogs for ECE1 Gene

(6) SIMAP similar genes for ECE1 Gene using alignment to 5 proteins:

  • ECE1_HUMAN
  • B4DKB2_HUMAN
  • E9PHZ1_HUMAN
  • E9PJG1_HUMAN
  • E9PN99_HUMAN
genes like me logo Genes that share paralogs with ECE1: view

Variants for ECE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECE1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
711267 Benign: not provided 21,260,382(-) C/T SYNONYMOUS_VARIANT
716901 Benign: not provided 21,228,002(-) C/T SYNONYMOUS_VARIANT
717606 Likely Benign: not provided 21,247,212(-) T/G INTRON_VARIANT
721682 Likely Benign: not provided 21,290,063(-) C/T INTRON_VARIANT
724423 Likely Benign: not provided 21,257,546(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ECE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ECE1 Gene

Variant ID Type Subtype PubMed ID
esv1006358 CNV deletion 20482838
esv2109865 CNV deletion 18987734
esv23912 CNV loss 19812545
esv3585442 CNV loss 21293372
nsv515620 CNV loss 19592680
nsv545735 CNV loss 21841781
nsv834380 CNV gain 17160897

Variation tolerance for ECE1 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECE1 Gene

Human Gene Mutation Database (HGMD)
ECE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECE1 Gene

Disorders for ECE1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for ECE1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hirschsprung disease, cardiac defects, and autonomic dysfunction
  • hcad
hypertension, essential
  • eht
autonomic dysfunction
  • autonomic disorder
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
esophagus liposarcoma
  • liposarcoma of esophagus
- elite association - COSMIC cancer census association via MalaCards
Search ECE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECE1_HUMAN
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) [MIM:613870]: A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. {ECO:0000269 PubMed:9915973}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ECE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ECE1: view

No data available for Genatlas for ECE1 Gene

Publications for ECE1 Gene

  1. Structure of human endothelin-converting enzyme I complexed with phosphoramidon. (PMID: 18992253) Schulz H … Oefner C (Journal of molecular biology 2009) 3 4 23
  2. Endothelin-converting enzyme 1 degrades neuropeptides in endosomes to control receptor recycling. (PMID: 17592116) Roosterman D … Steinhoff M (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3 23
  3. Risk of coronary artery disease as influenced by variants of the human endothelin and endothelin-converting enzyme genes. (PMID: 17264805) Bühler K … Cascorbi I (Pharmacogenetics and genomics 2007) 3 23 41
  4. Endothelin-converting enzyme-1b C-338A polymorphism is associated with the increased risk of coronary artery disease in Chinese population. (PMID: 17618613) Wang LS … Wang B (Clinica chimica acta; international journal of clinical chemistry 2007) 3 23 41
  5. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PMID: 16567585) Iemitsu M … Matsuda M (Hypertension (Dallas, Tex. : 1979) 2006) 3 23 41

Products for ECE1 Gene