Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ECEL1 Gene

Aliases for ECEL1 Gene

  • Endothelin Converting Enzyme Like 1 2 3 5
  • Damage Induced Neuronal Endopeptidase 2 3
  • XCE 3 4
  • Endothelin-Converting Enzyme-Like 1 3
  • X Converting Enzyme 3
  • Xce Protein 4
  • EC 3.4.24.- 4
  • DA5D 3
  • DINE 3
  • ECEX 3

External Ids for ECEL1 Gene

Previous GeneCards Identifiers for ECEL1 Gene

  • GC02M231401
  • GC02M232073
  • GC02M233308
  • GC02M233547
  • GC02M233170
  • GC02M233052
  • GC02M225195

Summaries for ECEL1 Gene

Entrez Gene Summary for ECEL1 Gene

  • This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for ECEL1 Gene

ECEL1 (Endothelin Converting Enzyme Like 1) is a Protein Coding gene. Diseases associated with ECEL1 include Arthrogryposis, Distal, Type 5D and Distal Arthrogryposis. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is ECE1.

UniProtKB/Swiss-Prot for ECEL1 Gene

  • May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.

Gene Wiki entry for ECEL1 Gene

Additional gene information for ECEL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECEL1 Gene

Genomics for ECEL1 Gene

GeneHancer (GH) Regulatory Elements for ECEL1 Gene

Promoters and enhancers for ECEL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J232487 Promoter 0.7 EPDnew 657.3 +0.0 5 0.1 ZFHX2 POLR2A EZH2 ECEL1 GC02P232463 GC02P232460
GH02J232488 Enhancer 0.3 FANTOM5 714.6 -0.7 -715 0.3 CTCF ECEL1 PRSS56
GH02J232432 Enhancer 0.7 ENCODE dbSUPER 15.6 +55.1 55093 1 ZSCAN21 CTCF ZSCAN16 PRDM10 ZBTB17 ECEL1 ECEL1P2 DIS3L2P1 ENSG00000237087
GH02J232661 Promoter/Enhancer 1 EPDnew ENCODE 9.5 -174.7 -174680 1.3 SMARCE1 E2F1 DPF2 FOS FOXA1 TCF7L2 EFHD1 LOC105373929 GIGYF2 KCNJ13 ECEL1 RN7SL359P
GH02J232650 Enhancer 0.9 ENCODE dbSUPER 10.3 -164.7 -164703 3.5 LEF1 ESRRA CEBPG ZIC2 ZBTB7B ZNF48 CTBP1 GATA3 POLR2A ZSCAN5C LOC105373929 GIGYF2 KCNJ13 ECEL1 SAG EFHD1 RN7SL359P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ECEL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ECEL1 gene promoter:

Genomic Locations for ECEL1 Gene

Genomic Locations for ECEL1 Gene
chr2:232,479,827-232,487,859
(GRCh38/hg38)
Size:
8,033 bases
Orientation:
Minus strand
chr2:233,344,537-233,352,538
(GRCh37/hg19)

Genomic View for ECEL1 Gene

Genes around ECEL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECEL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECEL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECEL1 Gene

Proteins for ECEL1 Gene

  • Protein details for ECEL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95672-ECEL1_HUMAN
    Recommended name:
    Endothelin-converting enzyme-like 1
    Protein Accession:
    O95672
    Secondary Accessions:
    • Q45UD9
    • Q53RF9
    • Q6UW86
    • Q86TH4
    • Q9NY95

    Protein attributes for ECEL1 Gene

    Size:
    775 amino acids
    Molecular mass:
    87791 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ECEL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECEL1 Gene

Post-translational modifications for ECEL1 Gene

Other Protein References for ECEL1 Gene

No data available for DME Specific Peptides for ECEL1 Gene

Domains & Families for ECEL1 Gene

Gene Families for ECEL1 Gene

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

Suggested Antigen Peptide Sequences for ECEL1 Gene

Graphical View of Domain Structure for InterPro Entry

O95672

UniProtKB/Swiss-Prot:

ECEL1_HUMAN :
  • Belongs to the peptidase M13 family.
Family:
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with ECEL1: view

Function for ECEL1 Gene

Molecular function for ECEL1 Gene

UniProtKB/Swiss-Prot Function:
May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.

Enzyme Numbers (IUBMB) for ECEL1 Gene

Phenotypes From GWAS Catalog for ECEL1 Gene

Gene Ontology (GO) - Molecular Function for ECEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity TAS 9931490
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ECEL1: view
genes like me logo Genes that share phenotypes with ECEL1: view

Human Phenotype Ontology for ECEL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ECEL1 Gene

MGI Knock Outs for ECEL1:

Animal Model Products

miRNA for ECEL1 Gene

miRTarBase miRNAs that target ECEL1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ECEL1 Gene

Localization for ECEL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECEL1 Gene

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 ECEL1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ECEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9931490
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ECEL1: view

Pathways & Interactions for ECEL1 Gene

SuperPathways for ECEL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ECEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003016 respiratory system process ISS --
GO:0006508 proteolysis IEA --
GO:0007218 neuropeptide signaling pathway IEA,TAS --
genes like me logo Genes that share ontologies with ECEL1: view

No data available for Pathways by source and SIGNOR curated interactions for ECEL1 Gene

Drugs & Compounds for ECEL1 Gene

(1) Drugs for ECEL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ECEL1: view

Transcripts for ECEL1 Gene

mRNA/cDNA for ECEL1 Gene

Unigene Clusters for ECEL1 Gene

Endothelin converting enzyme-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ECEL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c
SP1:
SP2: - -
SP3:
SP4: -
SP5:

Relevant External Links for ECEL1 Gene

GeneLoc Exon Structure for
ECEL1
ECgene alternative splicing isoforms for
ECEL1

Expression for ECEL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ECEL1 Gene

mRNA differential expression in normal tissues according to GTEx for ECEL1 Gene

This gene is overexpressed in Ovary (x18.3), Brain - Hypothalamus (x12.7), and Pituitary (x5.2).

Protein differential expression in normal tissues from HIPED for ECEL1 Gene

This gene is overexpressed in Pancreatic juice (54.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ECEL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ECEL1 Gene:

ECEL1

SOURCE GeneReport for Unigene cluster for ECEL1 Gene:

Hs.26880

mRNA Expression by UniProt/SwissProt for ECEL1 Gene:

O95672-ECEL1_HUMAN
Tissue specificity: Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala, caudate, thalamus, pancreas and skeletal muscle. Detected at very low levels in substantia nigra, cerebellum, cortex, corpus callosum and hippocampus.

Evidence on tissue expression from TISSUES for ECEL1 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ECEL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • cheek
  • chin
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with ECEL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ECEL1 Gene

Orthologs for ECEL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECEL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECEL1 34 33
  • 99.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ECEL1 34 33
  • 92.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ECEL1 34 33
  • 90.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ecel1 33
  • 88.98 (n)
mouse
(Mus musculus)
Mammalia Ecel1 16 34 33
  • 88.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ECEL1 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECEL1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECEL1 34 33
  • 78.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ecel1 33
  • 68.5 (n)
zebrafish
(Danio rerio)
Actinopterygii ECEL1 34
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6265 35
  • 43 (a)
Nep1 35
  • 35 (a)
Nep2 35
  • 34 (a)
Nep4 35
  • 33 (a)
BcDNA:GH07188 35
  • 28 (a)
CG15485 34
  • 26 (a)
ManyToMany
CG14526 34
  • 24 (a)
ManyToMany
CG14527 34 35
  • 24 (a)
ManyToMany
CG3775 34
  • 24 (a)
ManyToMany
CG14528 34 35
  • 23 (a)
ManyToMany
CG14529 34
  • 23 (a)
ManyToMany
CG4721 34 35
  • 21 (a)
ManyToMany
CG4725 34
  • 21 (a)
ManyToMany
CG8358 34 35
  • 21 (a)
ManyToMany
CG5527 34 35
  • 21 (a)
ManyToMany
Nep5 34
  • 21 (a)
ManyToMany
CG9507 34
  • 20 (a)
ManyToMany
CG42370 34
  • 20 (a)
ManyToMany
CG4723 34
  • 20 (a)
ManyToMany
CG3239 34
  • 19 (a)
ManyToMany
CG14523 34 35
  • 19 (a)
ManyToMany
CG9505 34
  • 17 (a)
ManyToMany
CG8550 34
  • 17 (a)
ManyToMany
CG4580 34
  • 16 (a)
ManyToMany
CG31918 34
  • 15 (a)
ManyToMany
CG9634 34
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T05A8.4 35
  • 34 (a)
T16A9.4 35
  • 32 (a)
F26G1.6 35
  • 28 (a)
F54F11.2 35
  • 26 (a)
T25B6.2 35
  • 24 (a)
F18A12.1 35
  • 24 (a)
nep-26 34
  • 23 (a)
ManyToMany
K02F6.9 35
  • 23 (a)
C49D10.10 35
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToOne
Species where no ortholog for ECEL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for ECEL1 Gene

ENSEMBL:
Gene Tree for ECEL1 (if available)
TreeFam:
Gene Tree for ECEL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ECEL1: view image

Paralogs for ECEL1 Gene

Paralogs for ECEL1 Gene

(5) SIMAP similar genes for ECEL1 Gene using alignment to 3 proteins:

  • ECEL1_HUMAN
  • H7C3M0_HUMAN
  • Q86SN0_HUMAN

Pseudogenes.org Pseudogenes for ECEL1 Gene

genes like me logo Genes that share paralogs with ECEL1: view

Variants for ECEL1 Gene

Sequence variations from dbSNP and Humsavar for ECEL1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs149459910 pathogenic, Arthrogryposis, distal, type 5d 232,483,452(-) C/T coding_sequence_variant, stop_gained
rs370167241 pathogenic, Arthrogryposis, distal, type 5d, not provided 232,484,863(-) G/A coding_sequence_variant, stop_gained
rs532757890 likely-pathogenic, pathogenic, not provided, Arthrogryposis, distal, type 5d, Arthrogryposis, distal, 5D (DA5D) [MIM:615065] 232,484,198(-) G/A coding_sequence_variant, missense_variant
rs587776917 pathogenic, Arthrogryposis, distal, type 5d 232,485,938(-) T/TT coding_sequence_variant, stop_gained
rs587776918 pathogenic, Arthrogryposis, distal, type 5d 232,486,299(-) TGGCGTCCAGGTTGGCG/TGGCG coding_sequence_variant, inframe_deletion

Structural Variations from Database of Genomic Variants (DGV) for ECEL1 Gene

Variant ID Type Subtype PubMed ID
nsv516082 CNV loss 19592680
nsv522450 CNV loss 19592680
nsv527789 CNV loss 19592680
nsv584694 CNV loss 21841781
nsv584695 CNV loss 21841781
nsv821918 CNV gain 20364138
nsv953202 CNV deletion 24416366

Variation tolerance for ECEL1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECEL1 Gene

Human Gene Mutation Database (HGMD)
ECEL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECEL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECEL1 Gene

Disorders for ECEL1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ECEL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 5d
  • da5d
distal arthrogryposis
  • freeman-sheldon syndrome
fissured tongue
  • congenital fissure of tongue
clubfoot
  • congenital clubfoot
strabismus
  • strabismus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search ECEL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECEL1_HUMAN
  • Arthrogryposis, distal, 5D (DA5D) [MIM:615065]: An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia. {ECO:0000269 PubMed:23236030, ECO:0000269 PubMed:23261301, ECO:0000269 PubMed:23808592, ECO:0000269 PubMed:23829171}. Note=The disease is caused by mutations affecting the gene represented in this entry. ECEL1 mutations have also been found in patients with arthrogryposis, significant ophthalmoplegia, and refractive errors (PubMed:23808592). {ECO:0000269 PubMed:23808592}.

Additional Disease Information for ECEL1

genes like me logo Genes that share disorders with ECEL1: view

No data available for Genatlas for ECEL1 Gene

Publications for ECEL1 Gene

  1. XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS. (PMID: 9931490) Valdenaire O … Schweizer A (Brain research. Molecular brain research 1999) 2 3 4 22 58
  2. Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration. (PMID: 10698686) Valdenaire O … Meijers C (The Biochemical journal 2000) 3 4 22 58
  3. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (PMID: 23829171) Shaheen R … Alkuraya FS (Clinical genetics 2014) 3 4 58
  4. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. (PMID: 23808592) Shaaban S … Engle EC (Clinical genetics 2014) 3 4 58
  5. Mutations in ECEL1 cause distal arthrogryposis type 5D. (PMID: 23261301) McMillin MJ … University of Washington Center for Mendelian Genomics (American journal of human genetics 2013) 3 4 58

Products for ECEL1 Gene

Sources for ECEL1 Gene

Content
Loading form....