Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O95672

- ECEL1_HUMAN

UniProt

O95672 - ECEL1_HUMAN

Protein

Endothelin-converting enzyme-like 1

Gene

ECEL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 3 (21 Mar 2006)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

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

    Cofactori

    Binds 1 zinc ion.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi612 – 6121Zinc; catalyticPROSITE-ProRule annotation
    Active sitei613 – 6131PROSITE-ProRule annotation
    Metal bindingi616 – 6161Zinc; catalyticPROSITE-ProRule annotation
    Metal bindingi672 – 6721Zinc; catalyticPROSITE-ProRule annotation

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. metalloendopeptidase activity Source: Ensembl
    3. metallopeptidase activity Source: ProtInc

    GO - Biological processi

    1. neuropeptide signaling pathway Source: ProtInc
    2. respiratory system process Source: UniProtKB

    Keywords - Molecular functioni

    Hydrolase, Metalloprotease, Protease

    Keywords - Ligandi

    Metal-binding, Zinc

    Protein family/group databases

    MEROPSiM13.007.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Endothelin-converting enzyme-like 1 (EC:3.4.24.-)
    Alternative name(s):
    Xce protein
    Gene namesi
    Name:ECEL1
    Synonyms:XCE
    ORF Names:UNQ2431/PRO4991
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:3147. ECEL1.

    Subcellular locationi

    Membrane By similarity; Single-pass type II membrane protein By similarity

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.4 Publications
    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).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti404 – 4041R → C in DA5D. 1 Publication
    VAR_069993
    Natural varianti418 – 4181R → S in DA5D. 1 Publication
    VAR_069747
    Natural varianti607 – 6071G → S in DA5D; patients have ophthalmoplegia. 1 Publication
    VAR_069994
    Natural varianti760 – 7601C → R in DA5D. 1 Publication
    VAR_069995

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615065. phenotype.
    Orphaneti329457. Distal arthrogryposis type 5D.
    PharmGKBiPA27595.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 775775Endothelin-converting enzyme-like 1PRO_0000078224Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi255 – 2551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi322 – 3221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi656 – 6561N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO95672.
    PaxDbiO95672.
    PRIDEiO95672.

    PTM databases

    PhosphoSiteiO95672.

    Expressioni

    Tissue specificityi

    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.

    Gene expression databases

    ArrayExpressiO95672.
    BgeeiO95672.
    CleanExiHS_ECEL1.
    GenevestigatoriO95672.

    Interactioni

    Protein-protein interaction databases

    BioGridi114820. 3 interactions.
    STRINGi9606.ENSP00000302051.

    Structurei

    3D structure databases

    ProteinModelPortaliO95672.
    SMRiO95672. Positions 112-775.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5959CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini83 – 775693LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei60 – 8223Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the peptidase M13 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG3590.
    HOGENOMiHOG000245574.
    HOVERGENiHBG005554.
    InParanoidiO95672.
    KOiK09610.
    OMAiRHAIPDD.
    OrthoDBiEOG7PZRWQ.
    PhylomeDBiO95672.
    TreeFamiTF315192.

    Family and domain databases

    Gene3Di3.40.390.10. 2 hits.
    InterProiIPR024079. MetalloPept_cat_dom.
    IPR000718. Peptidase_M13.
    IPR018497. Peptidase_M13_C.
    IPR008753. Peptidase_M13_N.
    [Graphical view]
    PANTHERiPTHR11733. PTHR11733. 1 hit.
    PfamiPF01431. Peptidase_M13. 1 hit.
    PF05649. Peptidase_M13_N. 1 hit.
    [Graphical view]
    PRINTSiPR00786. NEPRILYSIN.
    PROSITEiPS00142. ZINC_PROTEASE. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95672-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEPPYSLTAH YDEFQEVKYV SRCGAGGARG ASLPPGFPLG AARSATGARS    50
    GLPRWNRREV CLLSGLVFAA GLCAILAAML ALKYLGPVAA GGGACPEGCP 100
    ERKAFARAAR FLAANLDASI DPCQDFYSFA CGGWLRRHAI PDDKLTYGTI 150
    AAIGEQNEER LRRLLARPGG GPGGAAQRKV RAFFRSCLDM REIERLGPRP 200
    MLEVIEDCGG WDLGGAEERP GVAARWDLNR LLYKAQGVYS AAALFSLTVS 250
    LDDRNSSRYV IRIDQDGLTL PERTLYLAQD EDSEKILAAY RVFMERVLSL 300
    LGADAVEQKA QEILQVEQQL ANITVSEHDD LRRDVSSMYN KVTLGQLQKI 350
    TPHLRWKWLL DQIFQEDFSE EEEVVLLATD YMQQVSQLIR STPHRVLHNY 400
    LVWRVVVVLS EHLSPPFREA LHELAQEMEG SDKPQELARV CLGQANRHFG 450
    MALGALFVHE HFSAASKAKV QQLVEDIKYI LGQRLEELDW MDAETRAAAR 500
    AKLQYMMVMV GYPDFLLKPD AVDKEYEFEV HEKTYFKNIL NSIRFSIQLS 550
    VKKIRQEVDK STWLLPPQAL NAYYLPNKNQ MVFPAGILQP TLYDPDFPQS 600
    LNYGGIGTII GHELTHGYDD WGGQYDRSGN LLHWWTEASY SRFLRKAECI 650
    VRLYDNFTVY NQRVNGKHTL GENIADMGGL KLAYHAYQKW VREHGPEHPL 700
    PRLKYTHDQL FFIAFAQNWC IKRRSQSIYL QVLTDKHAPE HYRVLGSVSQ 750
    FEEFGRAFHC PKDSPMNPAH KCSVW 775
    Length:775
    Mass (Da):87,791
    Last modified:March 21, 2006 - v3
    Checksum:iC4ED98DE848BE822
    GO
    Isoform 2 (identifier: O95672-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         561-562: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:773
    Mass (Da):87,603
    Checksum:i56AADA3EB8A1A6E0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti45 – 451A → V in AAQ89282. (PubMed:12975309)Curated
    Sequence conflicti124 – 1241Q → R in AAZ22338. 1 PublicationCurated
    Sequence conflicti152 – 1521A → T in AAZ22338. 1 PublicationCurated
    Sequence conflicti163 – 1631R → C in AAZ22338. 1 PublicationCurated
    Sequence conflicti286 – 2861I → V in CAA76113. (PubMed:9931490)Curated
    Sequence conflicti293 – 2931F → L in AAZ22338. 1 PublicationCurated
    Sequence conflicti544 – 5441R → P in AAQ89282. (PubMed:12975309)Curated
    Sequence conflicti679 – 6791G → V in AAQ89282. (PubMed:12975309)Curated
    Sequence conflicti757 – 7582AF → VL in CAA76113. (PubMed:9931490)Curated
    Sequence conflicti763 – 7631D → V in CAA76113. (PubMed:9931490)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101H → Q.
    Corresponds to variant rs2741281 [ dbSNP | Ensembl ].
    VAR_012813
    Natural varianti328 – 3281H → Y.5 Publications
    Corresponds to variant rs1529874 [ dbSNP | Ensembl ].
    VAR_012814
    Natural varianti404 – 4041R → C in DA5D. 1 Publication
    VAR_069993
    Natural varianti418 – 4181R → S in DA5D. 1 Publication
    VAR_069747
    Natural varianti607 – 6071G → S in DA5D; patients have ophthalmoplegia. 1 Publication
    VAR_069994
    Natural varianti760 – 7601C → R in DA5D. 1 Publication
    VAR_069995

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei561 – 5622Missing in isoform 2. 1 PublicationVSP_017544

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y16187 mRNA. Translation: CAA76113.1.
    AJ130734 Genomic DNA. Translation: CAB86601.1.
    DQ114476 mRNA. Translation: AAZ22338.1.
    AY358923 mRNA. Translation: AAQ89282.1.
    AC092165 Genomic DNA. Translation: AAY24101.1.
    BC050453 mRNA. Translation: AAH50453.2.
    CCDSiCCDS2493.1. [O95672-1]
    RefSeqiNP_001277716.1. NM_001290787.1. [O95672-2]
    NP_004817.2. NM_004826.3. [O95672-1]
    UniGeneiHs.26880.

    Genome annotation databases

    EnsembliENST00000304546; ENSP00000302051; ENSG00000171551. [O95672-1]
    ENST00000409941; ENSP00000386333; ENSG00000171551. [O95672-2]
    GeneIDi9427.
    KEGGihsa:9427.
    UCSCiuc002vsv.2. human. [O95672-1]
    uc010fya.1. human. [O95672-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y16187 mRNA. Translation: CAA76113.1 .
    AJ130734 Genomic DNA. Translation: CAB86601.1 .
    DQ114476 mRNA. Translation: AAZ22338.1 .
    AY358923 mRNA. Translation: AAQ89282.1 .
    AC092165 Genomic DNA. Translation: AAY24101.1 .
    BC050453 mRNA. Translation: AAH50453.2 .
    CCDSi CCDS2493.1. [O95672-1 ]
    RefSeqi NP_001277716.1. NM_001290787.1. [O95672-2 ]
    NP_004817.2. NM_004826.3. [O95672-1 ]
    UniGenei Hs.26880.

    3D structure databases

    ProteinModelPortali O95672.
    SMRi O95672. Positions 112-775.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114820. 3 interactions.
    STRINGi 9606.ENSP00000302051.

    Protein family/group databases

    MEROPSi M13.007.

    PTM databases

    PhosphoSitei O95672.

    Proteomic databases

    MaxQBi O95672.
    PaxDbi O95672.
    PRIDEi O95672.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304546 ; ENSP00000302051 ; ENSG00000171551 . [O95672-1 ]
    ENST00000409941 ; ENSP00000386333 ; ENSG00000171551 . [O95672-2 ]
    GeneIDi 9427.
    KEGGi hsa:9427.
    UCSCi uc002vsv.2. human. [O95672-1 ]
    uc010fya.1. human. [O95672-2 ]

    Organism-specific databases

    CTDi 9427.
    GeneCardsi GC02M233308.
    H-InvDB HIX0029775.
    HIX0030407.
    HGNCi HGNC:3147. ECEL1.
    MIMi 605896. gene.
    615065. phenotype.
    neXtProti NX_O95672.
    Orphaneti 329457. Distal arthrogryposis type 5D.
    PharmGKBi PA27595.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG3590.
    HOGENOMi HOG000245574.
    HOVERGENi HBG005554.
    InParanoidi O95672.
    KOi K09610.
    OMAi RHAIPDD.
    OrthoDBi EOG7PZRWQ.
    PhylomeDBi O95672.
    TreeFami TF315192.

    Miscellaneous databases

    GeneWikii ECEL1.
    GenomeRNAii 9427.
    NextBioi 35318.
    PROi O95672.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95672.
    Bgeei O95672.
    CleanExi HS_ECEL1.
    Genevestigatori O95672.

    Family and domain databases

    Gene3Di 3.40.390.10. 2 hits.
    InterProi IPR024079. MetalloPept_cat_dom.
    IPR000718. Peptidase_M13.
    IPR018497. Peptidase_M13_C.
    IPR008753. Peptidase_M13_N.
    [Graphical view ]
    PANTHERi PTHR11733. PTHR11733. 1 hit.
    Pfami PF01431. Peptidase_M13. 1 hit.
    PF05649. Peptidase_M13_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00786. NEPRILYSIN.
    PROSITEi PS00142. ZINC_PROTEASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS."
      Valdenaire O., Richards J.G., Faull R.L.M., Schweizer A.
      Brain Res. Mol. Brain Res. 64:211-221(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT TYR-328.
      Tissue: Caudate nucleus and Spinal cord.
    2. "Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration."
      Valdenaire O., Rohrbacher E., Langeveld A., Schweizer A., Meijers C.
      Biochem. J. 346:611-616(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TYR-328.
    3. Lin L., Nong W., Zhou G., Ke R., Shen C., Zhong G., Zheng Z., Liang M., Huang B., Li H., Yang S.
      Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT TYR-328.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT TYR-328.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT TYR-328.
      Tissue: PNS.
    7. Cited for: VARIANT DA5D SER-418.
    8. "Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes."
      Shaaban S., Duzcan F., Yildirim C., Chan W.M., Andrews C., Akarsu N., Engle E.
      Clin. Genet. 85:562-567(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DA5D SER-607.
    9. "Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D."
      Shaheen R., Al-Owain M., Khan A., Zaki M., Hossni H., Al-Tassan R., Eyaid W., Alkuraya F.
      Clin. Genet. 85:568-572(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DA5D CYS-404.
    10. Cited for: VARIANT DA5D ARG-760.

    Entry informationi

    Entry nameiECEL1_HUMAN
    AccessioniPrimary (citable) accession number: O95672
    Secondary accession number(s): Q45UD9
    , Q53RF9, Q6UW86, Q86TH4, Q9NY95
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 27, 2002
    Last sequence update: March 21, 2006
    Last modified: October 1, 2014
    This is version 121 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Peptidase families
      Classification of peptidase families and list of entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3