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ECEL1 Gene

protein-coding   GIFtS: 51

GC02M233052
endothelin converting enzyme-like 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DINE 1, 2
EC 3.4.24.- 3
ECEX 2
OTTHUMP00000164361 2
XCE 1, 2, 3, 5
Descriptions
X converting enzyme 2
Xce protein 3
damage induced neuronal endopeptidase 2
endothelin converting enzyme-like 1 2
External Ids
HGNC: 31471
Entrez Gene: 94272
UniProtKB: O956723
Ensembl: ENSG000001715517
Search outside databases for aliases for ECEL1 gene

Previous GC identifers: GC02M231401 GC02M232073 GC02M233308 GC02M233547 GC02M233170

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ECEL1:
This gene encodes a member of the M13 family of endopeptidases. In general, M13 family members are
zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide
and peptide hormone activity. This gene is expressed specifically in the central nervous system
and its protein localizes predominately to the endoplasmic reticulum or, in trace amounts, to the
cell surface. Disruption of this gene in mouse embryonic stem cells results in neonatal lethality
due to respiratory failure shortly after birth. Based on the specific expression of this gene and
the phenotype of the gene deficiency in mouse embryos, it is suggested that this protein plays a
critical role in neural regulation of the respiratory system. This gene has multiple pseudogenes.
[provided by RefSeq]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ECEL1 gene  

Entrez Gene cytogenetic band: 2q36-q37   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)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M233052:     (about GC identifiers)

Start:
233,052,781 bp from pter
End:
233,060,782 bp from pter
Size:
8,002 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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)
Subcellular location: Membrane; Single-pass type II membrane protein (By similarity)
Secondary accessions: Q45UD9 Q53RF9 Q6UW86 Q86TH4 Q9NY95
Alternative splicing: 2 isoforms:  O95672-1   O95672-2   

Post-translational modifications:

  • N-glycosylated1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_004817.2  

    ENSEMBL proteins: 
    ENSP00000302051 ENSP00000386333 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Human Recombinant Proteins from Abnova (ECEL1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887 integral to plasma membrane TAS9931490
    GO:0016020 membrane IEA--
    About this table

    Antibodies for ECEL1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for ECEL1

    Assays for ECEL1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    4 InterPro domains/families:
     IPR008753 Peptidase_M13_N
     IPR006025 Pept_M_Zn_BS
     IPR000718 Peptidase_M13
     IPR018497 Peptidase_M13_C


       GeneDecks  ECEL1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O95672

    ProtoNet protein and cluster: O95672

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


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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ECEL1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ECEL1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004826

                  Applied Biosystems Silencer® siRNAs for ECEL1

                  Sigma-Aldrich siRNA and siRNA Panels for ECEL1  
                         Sigma-Aldrich shRNA for ECEL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ECEL1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004826
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004826
                                     untagged cDNA clones in CMV expression vector (see all 2): BC050453 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004826

    UniProtKB/Swiss-Prot: ECEL1_HUMAN, O95672
    Function: May contribute to the degradation of peptide hormones and be involved in the inactivation
    of neuronal peptides
    Enzyme Number (IUBMB): EC 3.4.24.- 

    6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ecel1):

    homeostasis/metabolismlethality-prenatal/perinatalnervous systemrespiratory system
    skeleton

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222 metalloendopeptidase activity IEA--
    GO:0008233 peptidase activity IEA--
    GO:0008270 zinc ion binding IEA--
    GO:0046872 metal ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    4 Interacting proteins for ECEL1 (ENSP000003020513) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LIFENSP000002490753STRING (score=.897)
    BRCA1ENSP000003502833STRING (score=.894)
    NGFENSP000003585253STRING (score=.86)
    PGK1ENSP000003624133STRING (score=.733)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis IEA--
    GO:0007218 neuropeptide signaling pathway TAS9931490
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ECEL1
    1 Novoseek chemical compound relationship for ECEL1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 37.52 6 10698686 (2), 9931490 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ECEL1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ECEL1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004826

                  Sigma-Aldrich siRNA and siRNA Panels for ECEL1  
                         Sigma-Aldrich shRNA for ECEL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004826  

    REFSEQ mRNAs for ECEL1 gene: 

    NM_004826.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004826  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_004826
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_004826
                                     untagged cDNA clones in CMV expression vector (see all 2): BC050453 

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/37 AceView cDNA sequences (see all 37 ):

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

    highest scoring ESTs for ECEL1:

    AB030579 AI625488 AY358923 BC050453 Y16187 AA523527 AA974635 AI559588 AI564376 AW247923 

    Unigene Cluster for ECEL1:

    Endothelin converting enzyme-like 1
    Hs.26880  [show with all ESTs]
    Unigene Representative Sequence: AB030579


    GeneLoc Exon Structure

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

    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:                                                                                                                                                            

    About this scheme

    ECgene alternative splicing isoforms for ECEL1

    2 Ensembl transcripts including schematic representations:
    ENST00000304546  ENST00000409941  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ECEL1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ECEL1

    1 / 2 / 3

    3 probe-sets matching ECEL1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    45458_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 AI625488 0.80 1.00 0.91 1

    219914_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004826 0.60 1.00 0.82 1

    219914_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ECEL1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ECEL1 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ECEL11   -- endothelin converting enzyme-like 1 92.09(n)
    95.87(a)
    486161  XM_543287.2  XP_543287.2 
    chimpanzee
    (Pan troglodytes)
    ECEL11   -- endothelin converting enzyme-like 1 98.98(n)
    98.89(a)
    460013  XM_516151.2  XP_516151.2 
    rat
    (Rattus norvegicus)
    Ecel11   -- endothelin converting enzyme-like 1 88.98(n)
    94.96(a)
    60417  NM_021776.1  NP_068544.1 
    mouse
    (Mus musculus)
    Ecel11, 5 15
    endothelin converting enzyme-like 11, 5 88.8(n)1
    94.83(a)1
    135991  NM_021306.21  NP_067281.21 
     AB0262945  AI8377735  (see all 9)
    chicken
    (Gallus gallus)
    ECEL11   -- endothelin converting enzyme-like 1 77.91(n)
    79.89(a)
    424937  XM_422744.2  XP_422744.2 
    About this table        Species with no ortholog for ECEL1

    ENSEMBL Gene Tree for ECEL1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ECEL1 gene
    ECE22  ECE12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/68 NCBI SNPs in ECEL1 are shown (see all 68 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 66)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs27412781,2
    A,C,F,H233052972(+) GCAGGG/CGGACC 1 -- ut31 ese35Minor allele frequency- C:0.37MN EU EA WA 584
    rs27420721,2
    A,C,F,H233061812(-) CTTTGT/AGGGGT 1 -- ng315Minor allele frequency- A:0.37EA EU WA 1918
    rs15298741,2
    C,F,H233057832(-) CAGAGT/CATGAC 1 Y/H mis19Minor allele frequency- C:0.05EU EA WA NA 914
    rs11904681,2
    F,H,O233062148(-) TTTTCC/TTCTTT 1 -- ng31 trp37Minor allele frequency- T:0.11EA MN EU WA 782
    rs28534271,2
    F,H233052564(+) CTGGGC/TGAGGC 1 -- ng513Minor allele frequency- T:0.10EU EA 284
    rs25732491,2
    H233052880(-) GATTCT/GGCTCT 1 -- ut31 ese34Minor allele frequency- G:0.00EU EA WA 412
    --
    rs348584951,2
    F233062224(-) GCACAAA/-GAGCC 1 -- ng315Minor allele frequency- -:0.33EU EA NA MN 430
    --
    rs18814931,2
    C233062534(-) GAGGAA/GGAAGG 1 -- ng31 trp30--------
    --
    rs11904291,2
    H233055834(-) GTTAAG/AAAGAT 1 K/K syn15Minor allele frequency- A:0.00MN EU EA WA 600
    rs7463791,2
    A,C,F,H,O233054271(+) AACCCC/GCTTGT 1 -- int16Minor allele frequency- G:0.41MN EU EA WA 720
    About this table

    HapMap Linkage Disequilibrium images for ECEL1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605896

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/11 PubMed articles for ECEL1 gene (see all 11 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 9427 HGNC: 3147 AceView: ECEL1 Ensembl:ENSG00000171551 euGenes: HUgn9427
    ECgene: ECEL1 H-InvDB: ECEL1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ECEL1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Millipore Preclinical / Clinical Development Services
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     Predesigned and custom siRNAs for ECEL1 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ECEL1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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