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O95672 (ECEL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Endothelin-converting enzyme-like 1

EC=3.4.24.-
Alternative name(s):
Xce protein
Gene names
Name:ECEL1
Synonyms:XCE
ORF Names:UNQ2431/PRO4991
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length775 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Cofactor

Binds 1 zinc ion By similarity.

Subcellular location

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

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.

Post-translational modification

N-glycosylated.

Involvement in disease

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 (Ref.8). Ref.7 Ref.8 Ref.9 Ref.10

Sequence similarities

Belongs to the peptidase M13 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95672-1)

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.
Isoform 2 (identifier: O95672-2)

The sequence of this isoform differs from the canonical sequence as follows:
     561-562: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 775775Endothelin-converting enzyme-like 1
PRO_0000078224

Regions

Topological domain1 – 5959Cytoplasmic Potential
Transmembrane60 – 8223Helical; Signal-anchor for type II membrane protein; Potential
Topological domain83 – 775693Lumenal Potential

Sites

Active site6131 By similarity
Metal binding6121Zinc; catalytic By similarity
Metal binding6161Zinc; catalytic By similarity
Metal binding6721Zinc; catalytic By similarity

Amino acid modifications

Glycosylation2551N-linked (GlcNAc...) Potential
Glycosylation3221N-linked (GlcNAc...) Potential
Glycosylation6561N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence561 – 5622Missing in isoform 2.
VSP_017544
Natural variant101H → Q.
Corresponds to variant rs2741281 [ dbSNP | Ensembl ].
VAR_012813
Natural variant3281H → Y. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs1529874 [ dbSNP | Ensembl ].
VAR_012814
Natural variant4041R → C in DA5D. Ref.9
VAR_069993
Natural variant4181R → S in DA5D. Ref.7
VAR_069747
Natural variant6071G → S in DA5D; patients have ophthalmoplegia. Ref.8
VAR_069994
Natural variant7601C → R in DA5D. Ref.10
VAR_069995

Experimental info

Sequence conflict451A → V in AAQ89282. Ref.4
Sequence conflict1241Q → R in AAZ22338. Ref.3
Sequence conflict1521A → T in AAZ22338. Ref.3
Sequence conflict1631R → C in AAZ22338. Ref.3
Sequence conflict2861I → V in CAA76113. Ref.1
Sequence conflict2931F → L in AAZ22338. Ref.3
Sequence conflict5441R → P in AAQ89282. Ref.4
Sequence conflict6791G → V in AAQ89282. Ref.4
Sequence conflict757 – 7582AF → VL in CAA76113. Ref.1
Sequence conflict7631D → V in CAA76113. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 21, 2006. Version 3.
Checksum: C4ED98DE848BE822

FASTA77587,791
        10         20         30         40         50         60 
MEPPYSLTAH YDEFQEVKYV SRCGAGGARG ASLPPGFPLG AARSATGARS GLPRWNRREV 

        70         80         90        100        110        120 
CLLSGLVFAA GLCAILAAML ALKYLGPVAA GGGACPEGCP ERKAFARAAR FLAANLDASI 

       130        140        150        160        170        180 
DPCQDFYSFA CGGWLRRHAI PDDKLTYGTI AAIGEQNEER LRRLLARPGG GPGGAAQRKV 

       190        200        210        220        230        240 
RAFFRSCLDM REIERLGPRP MLEVIEDCGG WDLGGAEERP GVAARWDLNR LLYKAQGVYS 

       250        260        270        280        290        300 
AAALFSLTVS LDDRNSSRYV IRIDQDGLTL PERTLYLAQD EDSEKILAAY RVFMERVLSL 

       310        320        330        340        350        360 
LGADAVEQKA QEILQVEQQL ANITVSEHDD LRRDVSSMYN KVTLGQLQKI TPHLRWKWLL 

       370        380        390        400        410        420 
DQIFQEDFSE EEEVVLLATD YMQQVSQLIR STPHRVLHNY LVWRVVVVLS EHLSPPFREA 

       430        440        450        460        470        480 
LHELAQEMEG SDKPQELARV CLGQANRHFG MALGALFVHE HFSAASKAKV QQLVEDIKYI 

       490        500        510        520        530        540 
LGQRLEELDW MDAETRAAAR AKLQYMMVMV GYPDFLLKPD AVDKEYEFEV HEKTYFKNIL 

       550        560        570        580        590        600 
NSIRFSIQLS VKKIRQEVDK STWLLPPQAL NAYYLPNKNQ MVFPAGILQP TLYDPDFPQS 

       610        620        630        640        650        660 
LNYGGIGTII GHELTHGYDD WGGQYDRSGN LLHWWTEASY SRFLRKAECI VRLYDNFTVY 

       670        680        690        700        710        720 
NQRVNGKHTL GENIADMGGL KLAYHAYQKW VREHGPEHPL PRLKYTHDQL FFIAFAQNWC 

       730        740        750        760        770 
IKRRSQSIYL QVLTDKHAPE HYRVLGSVSQ FEEFGRAFHC PKDSPMNPAH KCSVW 

« Hide

Isoform 2 [UniParc].

Checksum: 56AADA3EB8A1A6E0
Show »

FASTA77387,603

References

« Hide 'large scale' references
[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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Mutations in ECEL1 cause distal arthrogryposis type 5D."
University of Washington Center for Mendelian Genomics
McMillin M.J., Below J.E., Shively K.M., Beck A.E., Gildersleeve H.I., Pinner J., Gogola G.R., Hecht J.T., Grange D.K., Harris D.J., Earl D.L., Jagadeesh S., Mehta S.G., Robertson S.P., Swanson J.M., Faustman E.M., Mefford H.C., Shendure J., Nickerson D.A., Bamshad M.J.
Am. J. Hum. Genet. 92:150-156(2013) [PubMed] [Europe PMC] [Abstract]
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. 0:0-0(2013) [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. 0:0-0(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DA5D CYS-404.
[10]"The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis."
Dieterich K., Quijano-Roy S., Monnier N., Zhou J., Faure J., Smirnow D.A., Carlier R., Laroche C., Marcorelles P., Mercier S., Megarbane A., Odent S., Romero N., Sternberg D., Marty I., Estournet B., Jouk P.S., Melki J., Lunardi J.
Hum. Mol. Genet. 22:1483-1492(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DA5D ARG-760.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004817.2. NM_004826.2.
UniGeneHs.26880.

3D structure databases

ProteinModelPortalO95672.
SMRO95672. Positions 112-775.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114820. 3 interactions.
STRING9606.ENSP00000302051.

Protein family/group databases

MEROPSM13.007.

PTM databases

PhosphoSiteO95672.

Proteomic databases

PaxDbO95672.
PRIDEO95672.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304546; ENSP00000302051; ENSG00000171551. [O95672-1]
ENST00000409941; ENSP00000386333; ENSG00000171551. [O95672-2]
GeneID9427.
KEGGhsa:9427.
UCSCuc002vsv.2. human. [O95672-1]
uc010fya.1. human. [O95672-2]

Organism-specific databases

CTD9427.
GeneCardsGC02M233308.
H-InvDBHIX0029775.
HIX0030407.
HGNCHGNC:3147. ECEL1.
MIM605896. gene.
615065. phenotype.
neXtProtNX_O95672.
Orphanet329457. Distal arthrogryposis type 5D.
PharmGKBPA27595.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3590.
HOGENOMHOG000245574.
HOVERGENHBG005554.
InParanoidO95672.
KOK09610.
OMAHLYDNFT.
OrthoDBEOG7PZRWQ.
PhylomeDBO95672.
TreeFamTF315192.

Gene expression databases

ArrayExpressO95672.
BgeeO95672.
CleanExHS_ECEL1.
GenevestigatorO95672.

Family and domain databases

Gene3D3.40.390.10. 2 hits.
InterProIPR024079. MetalloPept_cat_dom.
IPR000718. Peptidase_M13.
IPR018497. Peptidase_M13_C.
IPR008753. Peptidase_M13_N.
[Graphical view]
PANTHERPTHR11733. PTHR11733. 1 hit.
PfamPF01431. Peptidase_M13. 1 hit.
PF05649. Peptidase_M13_N. 1 hit.
[Graphical view]
PRINTSPR00786. NEPRILYSIN.
PROSITEPS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiECEL1.
GenomeRNAi9427.
NextBio35318.
PROO95672.
SOURCESearch...

Entry information

Entry nameECEL1_HUMAN
AccessionPrimary (citable) accession number: O95672
Secondary accession number(s): Q45UD9 expand/collapse secondary AC list , Q53RF9, Q6UW86, Q86TH4, Q9NY95
Entry history
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 21, 2006
Last modified: April 16, 2014
This is version 117 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM