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ECEL1 Gene

protein-coding   GIFtS: 53
GCID: GC02M233308

Endothelin Converting Enzyme-Like 1

Microbiology & Infectious Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Endothelin Converting Enzyme-Like 11 2     Endothelin-Converting Enzyme-Like 12
XCE2 3 5     X Converting Enzyme2
Damage Induced Neuronal Endopeptidase1 2     EC 3.4.24.-3
DA5D2 5     Xce Protein3
DINE2     EC 3.4.248
ECEX2     EC 3.4.24.118

External Ids:    HGNC: 31471   Entrez Gene: 94272   Ensembl: ENSG000001715517   OMIM: 6058965   UniProtKB: O956723   

Export aliases for ECEL1 gene to outside databases

Previous GC identifers: GC02M231401 GC02M232073 GC02M233547 GC02M233170 GC02M233052 GC02M225195


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 respiratory failure, and arthrogryposis, distal, type 5d. GO annotations related to this gene include metallopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is PHEX.

UniProtKB/Swiss-Prot: ECEL1_HUMAN, O95672
Function: May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal
peptides

Gene Wiki entry for ECEL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ECEL1 gene promoter:
         LHX3b/Lhx3b   USF1   Pax-5   LUN-1   LCR-F1   GATA-1   Pax-3   USF-1   LHX3a/Lhx3a   Sox9   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ECEL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECEL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

ECEL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECEL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M233308:  view genomic region     (about GC identifiers)

Start:
233,344,537 bp from pter      End:
233,352,538 bp from pter
Size:
8,002 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ECEL1_HUMAN, O95672 (See protein sequence)
Recommended Name: Endothelin-converting enzyme-like 1  
Size: 775 amino acids; 87791 Da
Cofactor: Binds 1 zinc ion (By similarity)
Secondary accessions: Q45UD9 Q53RF9 Q6UW86 Q86TH4 Q9NY95
Alternative splicing: 2 isoforms:  O95672-1   O95672-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ECEL1: NX_O95672

Explore proteomics data for ECEL1 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn255, Asn322, Asn656
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ECEL1 (O95672)
     LNYGGIG  FPAGILQ  FACGGWLRRH 


    See ECEL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001277716.1  NP_004817.2  

    ENSEMBL proteins: 
     ENSP00000412683   ENSP00000302051   ENSP00000386333  

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    Cloud-Clone Corp. Proteins for ECEL1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR024079 MetalloPept_cat_dom
     IPR008753 Peptidase_M13_N
     IPR000718 Peptidase_M13
     IPR018497 Peptidase_M13_C

    Graphical View of Domain Structure for InterPro Entry O95672

    ProtoNet protein and cluster: O95672

    2 Blocks protein domains:
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


    UniProtKB/Swiss-Prot: ECEL1_HUMAN, O95672
    Similarity: Belongs to the peptidase M13 family


    ECEL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECEL1_HUMAN, O95672
    Function: May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal
    peptides

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.242 EC 3.4.24.112

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0008237metallopeptidase activity TAS9931490
    GO:0046872metal ion binding IEA--
         
    ECEL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ECEL1:
     Low eccentricity cells 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ecel1):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     respiratory system  skeleton 

    ECEL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ECEL1: Ecel1tm1Hiki Ecel1tm1Jroh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECEL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ECEL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ECEL1

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    miRTarBase miRNAs that target ECEL1:
    hsa-mir-877-5p (MIRT037252)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ECEL1_HUMAN, O95672: Membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9931490

    ECEL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ECEL1
    Interactions:

        Search GeneGlobe Interaction Network for ECEL1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ECEL1 (ENSP000003020514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRCA1ENSP000003502834STRING: ENSP00000350283
    BARD1ENSP000002609474STRING: ENSP00000260947
    HIST2H3CENSP000003581544STRING: ENSP00000358154
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003016respiratory system process ISS--
    GO:0006508proteolysis ----
    GO:0007218neuropeptide signaling pathway TAS9931490

    ECEL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ECEL1

    1 Novoseek inferred chemical compound relationship for ECEL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 36.6 6 10698686 (2), 9931490 (1)



    ECEL1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ECEL1 gene (2 alternative transcripts): 
    NM_001290787.1  NM_004826.3  

    Unigene Cluster for ECEL1:

    Endothelin converting enzyme-like 1
    Hs.26880  [show with all ESTs]
    Unigene Representative Sequence: AB030579
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000411860 ENST00000482346(uc010fyb.1) ENST00000304546(uc010fya.1 uc002vsv.2)
    ENST00000409941
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB030579.1 AB073895.1 AY358923.1 BC050453.1 DQ114476.1 Y16187.1 

    4 DOTS entries:

    DT.207419  DT.121006016  DT.100749473  DT.100749474 

    Selected AceView cDNA sequences (see all 37):

    BM704287 BM711866 BM564570 CD107739 BM556407 BC050453 R61395 BQ008324 
    BX091205 BM665679 BE777813 BF514928 Y16187 NM_004826 BU726047 AW247923 
    BU189672 BE782599 BM690531 AY358923 BM473899 BF663245 AB030579 CD106880 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ECEL1    About this scheme

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for ECEL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ECEL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ECEL1 Expression
    About this image

    ECEL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECEL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26880

    UniProtKB/Swiss-Prot: ECEL1_HUMAN, O95672
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ECEL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ecel11 , 5 endothelin converting enzyme-like 11, 5 88.8(n)1
    94.83(a)1
      1 (44.06 cM)5
    135991  NM_001277925.11  NP_001264854.11 
     871476555 
    chicken
    (Gallus gallus)
    Aves ECEL11 endothelin converting enzyme-like 1 78.68(n)
    81.45(a)
      424937  XM_422744.4  XP_422744.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    79(a)
    60(a)
    1 ↔ many
    1 ↔ many
    GL343304.1(579334-674206)
    AAWZ02039999(3507-3980)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ecel11 endothelin converting enzyme-like 1 68.5(n)
    74.71(a)
      100496473  XM_002937340.2  XP_002937386.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ECEL16
    endothelin converting enzyme-like 1
    67(a)
    1 ↔ 1
    15(47346210-47393692) ENSDARG00000060549
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62653 endothelin-converting enzyme 43(a)
    (best of 11)
      97E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea T05A8.43 protease 34(a)
    (best of 8)
      II(2717612-2725538)   --


    ENSEMBL Gene Tree for ECEL1 (if available)
    TreeFam Gene Tree for ECEL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ECEL1 gene
    PHEX2  MME2  KEL2  ECE22  ECE12  MMEL12  
    5 SIMAP similar genes for ECEL1 using alignment to 3 protein entries:     ECEL1_HUMAN (see all proteins):
    MMEL1    ECE1    ECE2    PHEX    MME

    ECEL1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ECEL1
    PGOHUM00000240554 PGOHUM00000240555 PGOHUM00000240556


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ECEL1 (see all 354)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699954
    Arthrogryposis, distal, 5D (DA5D)4--see VAR_0699952 C R mis40--------
    VAR_0699944
    Arthrogryposis, distal, 5D (DA5D)4--see VAR_0699942 G S mis40--------
    VAR_0697474
    Arthrogryposis, distal, 5D (DA5D)4--see VAR_0697472 R S mis40--------
    VAR_0699934
    Arthrogryposis, distal, 5D (DA5D)4--see VAR_0699932 R C mis40--------
    rs757354391,2
    C,F--233344090(+) CCACAC/ATGGAG 1 -- int11Minor allele frequency- A:0.04WA 118
    rs1135670961,2
    F--233344236(+) TCATAG/AGCCCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs28534271,2
    C,F,H--233344320(+) CTGGGC/TGAGGC 1 -- int16Minor allele frequency- T:0.08NS EA WA NA 642
    rs1471264231,2
    --233344321(+) TGGGCA/GAGGCT 1 -- int10--------
    rs1817420981,2
    --233344343(+) CGGCTA/GGGCCA 1 -- int10--------
    rs25732491,2
    H--233344636(-) GATTCT/GGCTCT 1 -- ut31 ese34Minor allele frequency- G:0.00NS EA 412

    HapMap Linkage Disequilibrium report for ECEL1 (233344537 - 233352538 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ECEL1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4453n71CNV Loss21882294
    nsv527789CNV Loss19592680
    nsv875977CNV Loss21882294
    nsv875998CNV Loss21882294
    nsv522450CNV Loss19592680
    dgv4454n71CNV Loss21882294
    nsv875999CNV Loss21882294
    nsv516082CNV Loss19592680
    nsv876001CNV Loss21882294
    nsv821918CNV Gain20364138

    Human Gene Mutation Database (HGMD): ECEL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECEL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ECEL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605896   
    OMIM disorders: 615065  
    UniProtKB/Swiss-Prot: ECEL1_HUMAN, O95672
  • 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. 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)

  • 7 diseases for ECEL1:    
    About MalaCards
    respiratory failure    arthrogryposis, distal, type 5d    distal arthrogryposis    neuronitis
    pneumonia    neuroblastoma    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for ECEL1:
    Distal arthrogryposis

    ECEL1 for disorders           About GeneDecksing


    Export disorders for ECEL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ECEL1 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with ECEL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS. (PubMed id 9931490)1, 2, 3, 9 Valdenaire O.... Schweizer A. (Brain Res. Mol. Brain Res. 1999)
    2. Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration. (PubMed id 10698686)1, 2, 9 Valdenaire O.... Meijers C. (Biochem. J. 2000)
    3. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. (PubMed id 23808592)1, 2 Shaaban S....Engle E. (Clin. Genet. 2013)
    4. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (PubMed id 23236030)1, 2 Dieterich K....Lunardi J. (Hum. Mol. Genet. 2013)
    5. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. (PubMed id 23829171)1, 2 Shaheen R....Alkuraya F. (Clin. Genet. 2013)
    6. Mutations in ECEL1 cause distal arthrogryposis type 5D. (PubMed id 23261301)1, 2 McMillin M.J....Bamshad M.J. (Am. J. Hum. Genet. 2013)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. Complex arrangement of genes within a 220-kb region of double- duplicated DNA on human 2q37.1. (PubMed id 11352565)1, 3 Rump A.... Rosenthal A. (Genomics 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9427 HGNC: 3147 AceView: ECEL1 Ensembl:ENSG00000171551 euGenes: HUgn9427
    ECgene: ECEL1 H-InvDB: ECEL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ECEL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ECEL1 gene:
    Search GeneIP for patents involving ECEL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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