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Protein

Endothelin-converting enzyme-like 1

Gene

ECEL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Caution

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi612Zinc; catalyticPROSITE-ProRule annotation1
Active sitei613PROSITE-ProRule annotation1
Metal bindingi616Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi672Zinc; catalyticPROSITE-ProRule annotation1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • metalloendopeptidase activity Source: Ensembl
  • metallopeptidase activity Source: ProtInc

GO - Biological processi

  • neuropeptide signaling pathway Source: ProtInc
  • respiratory system process Source: UniProtKB

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandMetal-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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000171551.11
HGNCiHGNC:3147 ECEL1
MIMi605896 gene
neXtProtiNX_O95672

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 59CytoplasmicSequence analysisAdd BLAST59
Transmembranei60 – 82Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
Topological domaini83 – 775LumenalSequence analysisAdd BLAST693

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, distal, 5D (DA5D)4 Publications
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
Disease descriptionAn 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.
See also OMIM:615065
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069993404R → C in DA5D. 1 PublicationCorresponds to variant dbSNP:rs532757890Ensembl.1
Natural variantiVAR_069747418R → S in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587776919Ensembl.1
Natural variantiVAR_069994607G → S in DA5D; patients have ophthalmoplegia. 1 Publication1
Natural variantiVAR_069995760C → R in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587777129Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9427
MalaCardsiECEL1
MIMi615065 phenotype
OpenTargetsiENSG00000171551
Orphaneti329457 Distal arthrogryposis type 5D
PharmGKBiPA27595

Polymorphism and mutation databases

BioMutaiECEL1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000782241 – 775Endothelin-converting enzyme-like 1Add BLAST775

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi255N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi322N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi656N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO95672
PaxDbiO95672
PeptideAtlasiO95672
PRIDEiO95672

PTM databases

iPTMnetiO95672
PhosphoSitePlusiO95672

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

BgeeiENSG00000171551
CleanExiHS_ECEL1
ExpressionAtlasiO95672 baseline and differential
GenevisibleiO95672 HS

Organism-specific databases

HPAiHPA067560

Interactioni

Protein-protein interaction databases

BioGridi11482024 interactors.
STRINGi9606.ENSP00000302051

Structurei

3D structure databases

ProteinModelPortaliO95672
SMRiO95672
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M13 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00760000119162
HOGENOMiHOG000245574
HOVERGENiHBG005554
InParanoidiO95672
KOiK09610
OMAiYVIRIDQ
OrthoDBiEOG091G025Y
PhylomeDBiO95672
TreeFamiTF315192

Family and domain databases

CDDicd08662 M13, 1 hit
Gene3Di3.40.390.103 hits
InterProiView protein in InterPro
IPR029736 ECEL1
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR008753 Peptidase_M13_N
PANTHERiPTHR11733 PTHR11733, 1 hit
PTHR11733:SF195 PTHR11733:SF195, 1 hit
PfamiView protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit
PRINTSiPR00786 NEPRILYSIN
PROSITEiView protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MEPPYSLTAH YDEFQEVKYV SRCGAGGARG ASLPPGFPLG AARSATGARS
60 70 80 90 100
GLPRWNRREV CLLSGLVFAA GLCAILAAML ALKYLGPVAA GGGACPEGCP
110 120 130 140 150
ERKAFARAAR FLAANLDASI DPCQDFYSFA CGGWLRRHAI PDDKLTYGTI
160 170 180 190 200
AAIGEQNEER LRRLLARPGG GPGGAAQRKV RAFFRSCLDM REIERLGPRP
210 220 230 240 250
MLEVIEDCGG WDLGGAEERP GVAARWDLNR LLYKAQGVYS AAALFSLTVS
260 270 280 290 300
LDDRNSSRYV IRIDQDGLTL PERTLYLAQD EDSEKILAAY RVFMERVLSL
310 320 330 340 350
LGADAVEQKA QEILQVEQQL ANITVSEHDD LRRDVSSMYN KVTLGQLQKI
360 370 380 390 400
TPHLRWKWLL DQIFQEDFSE EEEVVLLATD YMQQVSQLIR STPHRVLHNY
410 420 430 440 450
LVWRVVVVLS EHLSPPFREA LHELAQEMEG SDKPQELARV CLGQANRHFG
460 470 480 490 500
MALGALFVHE HFSAASKAKV QQLVEDIKYI LGQRLEELDW MDAETRAAAR
510 520 530 540 550
AKLQYMMVMV GYPDFLLKPD AVDKEYEFEV HEKTYFKNIL NSIRFSIQLS
560 570 580 590 600
VKKIRQEVDK STWLLPPQAL NAYYLPNKNQ MVFPAGILQP TLYDPDFPQS
610 620 630 640 650
LNYGGIGTII GHELTHGYDD WGGQYDRSGN LLHWWTEASY SRFLRKAECI
660 670 680 690 700
VRLYDNFTVY NQRVNGKHTL GENIADMGGL KLAYHAYQKW VREHGPEHPL
710 720 730 740 750
PRLKYTHDQL FFIAFAQNWC IKRRSQSIYL QVLTDKHAPE HYRVLGSVSQ
760 770
FEEFGRAFHC PKDSPMNPAH KCSVW
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)DescriptionActionsGraphical viewLength
Sequence conflicti45A → V in AAQ89282 (PubMed:12975309).Curated1
Sequence conflicti124Q → R in AAZ22338 (Ref. 3) Curated1
Sequence conflicti152A → T in AAZ22338 (Ref. 3) Curated1
Sequence conflicti163R → C in AAZ22338 (Ref. 3) Curated1
Sequence conflicti286I → V in CAA76113 (PubMed:9931490).Curated1
Sequence conflicti293F → L in AAZ22338 (Ref. 3) Curated1
Sequence conflicti544R → P in AAQ89282 (PubMed:12975309).Curated1
Sequence conflicti679G → V in AAQ89282 (PubMed:12975309).Curated1
Sequence conflicti757 – 758AF → VL in CAA76113 (PubMed:9931490).Curated2
Sequence conflicti763D → V in CAA76113 (PubMed:9931490).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01281310H → Q. Corresponds to variant dbSNP:rs2741281Ensembl.1
Natural variantiVAR_012814328H → Y5 PublicationsCorresponds to variant dbSNP:rs1529874Ensembl.1
Natural variantiVAR_069993404R → C in DA5D. 1 PublicationCorresponds to variant dbSNP:rs532757890Ensembl.1
Natural variantiVAR_069747418R → S in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587776919Ensembl.1
Natural variantiVAR_069994607G → S in DA5D; patients have ophthalmoplegia. 1 Publication1
Natural variantiVAR_069995760C → R in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587777129Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017544561 – 562Missing in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS77540.1 [O95672-2]
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.3 human [O95672-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiECEL1_HUMAN
AccessioniPrimary (citable) accession number: O95672
Secondary accession number(s): Q45UD9
, Q53RF9, Q6UW86, Q86TH4, Q9NY95
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 21, 2006
Last modified: February 28, 2018
This is version 151 of the entry and version 3 of the sequence. See 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