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O95672

- ECEL1_HUMAN

UniProt

O95672 - ECEL1_HUMAN

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Protein
Endothelin-converting enzyme-like 1
Gene
ECEL1, XCE, UNQ2431/PRO4991
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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; catalytic By similarity
Active sitei613 – 6131 By similarity
Metal bindingi616 – 6161Zinc; catalytic By similarity
Metal bindingi672 – 6721Zinc; catalytic By similarity

GO - Molecular functioni

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

GO - Biological processi

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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5959Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei60 – 8223Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini83 – 775693Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

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.
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 (1 Publication).4 Publications
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 1
PRO_0000078224Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M13 family.

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

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.
VSP_017544

Sequence conflict

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

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 120 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

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