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Protein

Endothelin-converting enzyme-like 1

Gene

ECEL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi612Zinc; catalyticPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei613PROSITE-ProRule annotation1
Metal bindingi616Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi672Zinc; catalyticPROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M13.007

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Endothelin-converting enzyme-like 1 (EC:3.4.24.-)
Alternative name(s):
Xce protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ECEL1
Synonyms:XCE
ORF Names:UNQ2431/PRO4991
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000171551.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3147 ECEL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605896 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95672

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 59CytoplasmicSequence analysisAdd BLAST59
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei60 – 82Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
Topological domaini83 – 775LumenalSequence analysisAdd BLAST693

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069993404R → C in DA5D. 1 PublicationCorresponds to variant dbSNP:rs532757890EnsemblClinVar.1
Natural variantiVAR_069747418R → S in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587776919EnsemblClinVar.1
Natural variantiVAR_069994607G → S in DA5D; patients have ophthalmoplegia. 1 Publication1
Natural variantiVAR_069995760C → R in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587777129EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9427

MalaCards human disease database

More...
MalaCardsi
ECEL1
MIMi615065 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171551

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
329457 Distal arthrogryposis type 5D

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27595

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ECEL1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000782241 – 775Endothelin-converting enzyme-like 1Add BLAST775

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi255N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi322N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi656N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95672

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95672

PeptideAtlas

More...
PeptideAtlasi
O95672

PRoteomics IDEntifications database

More...
PRIDEi
O95672

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50986
50987 [O95672-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95672

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O95672

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171551 Expressed in 87 organ(s), highest expression level in hypothalamus

CleanEx database of gene expression profiles

More...
CleanExi
HS_ECEL1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95672 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95672 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA067560
HPA069756

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114820, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000302051

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95672

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O95672

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M13 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3624 Eukaryota
COG3590 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157673

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000245574

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005554

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O95672

KEGG Orthology (KO)

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KOi
K09610

Identification of Orthologs from Complete Genome Data

More...
OMAi
HLYDNFT

Database of Orthologous Groups

More...
OrthoDBi
282463at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95672

TreeFam database of animal gene trees

More...
TreeFami
TF315192

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08662 M13, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.390.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029736 ECEL1
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR008753 Peptidase_M13_N

The PANTHER Classification System

More...
PANTHERi
PTHR11733 PTHR11733, 1 hit
PTHR11733:SF195 PTHR11733:SF195, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00786 NEPRILYSIN

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C3M0H7C3M0_HUMAN
Endothelin-converting enzyme-like 1
ECEL1
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs1529874EnsemblClinVar.1
Natural variantiVAR_069993404R → C in DA5D. 1 PublicationCorresponds to variant dbSNP:rs532757890EnsemblClinVar.1
Natural variantiVAR_069747418R → S in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587776919EnsemblClinVar.1
Natural variantiVAR_069994607G → S in DA5D; patients have ophthalmoplegia. 1 Publication1
Natural variantiVAR_069995760C → R in DA5D. 1 PublicationCorresponds to variant dbSNP:rs587777129EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_017544561 – 562Missing in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2493.1 [O95672-1]
CCDS77540.1 [O95672-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001277716.1, NM_001290787.1 [O95672-2]
NP_004817.2, NM_004826.3 [O95672-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.26880

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000304546; ENSP00000302051; ENSG00000171551 [O95672-1]
ENST00000409941; ENSP00000386333; ENSG00000171551 [O95672-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9427

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9427

UCSC genome browser

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UCSCi
uc002vsv.3 human [O95672-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

ProteinModelPortaliO95672
SMRiO95672
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114820, 24 interactors
STRINGi9606.ENSP00000302051

Protein family/group databases

MEROPSiM13.007

PTM databases

iPTMnetiO95672
PhosphoSitePlusiO95672

Polymorphism and mutation databases

BioMutaiECEL1

Proteomic databases

MaxQBiO95672
PaxDbiO95672
PeptideAtlasiO95672
PRIDEiO95672
ProteomicsDBi50986
50987 [O95672-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304546; ENSP00000302051; ENSG00000171551 [O95672-1]
ENST00000409941; ENSP00000386333; ENSG00000171551 [O95672-2]
GeneIDi9427
KEGGihsa:9427
UCSCiuc002vsv.3 human [O95672-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9427
DisGeNETi9427
EuPathDBiHostDB:ENSG00000171551.11

GeneCards: human genes, protein and diseases

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GeneCardsi
ECEL1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0029775
HIX0030407
HGNCiHGNC:3147 ECEL1
HPAiHPA067560
HPA069756
MalaCardsiECEL1
MIMi605896 gene
615065 phenotype
neXtProtiNX_O95672
OpenTargetsiENSG00000171551
Orphaneti329457 Distal arthrogryposis type 5D
PharmGKBiPA27595

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00940000157673
HOGENOMiHOG000245574
HOVERGENiHBG005554
InParanoidiO95672
KOiK09610
OMAiHLYDNFT
OrthoDBi282463at2759
PhylomeDBiO95672
TreeFamiTF315192

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ECEL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9427

Protein Ontology

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PROi
PR:O95672

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171551 Expressed in 87 organ(s), highest expression level in hypothalamus
CleanExiHS_ECEL1
ExpressionAtlasiO95672 baseline and differential
GenevisibleiO95672 HS

Family and domain databases

CDDicd08662 M13, 1 hit
Gene3Di3.40.390.10, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiECEL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95672
Secondary accession number(s): Q45UD9
, Q53RF9, Q6UW86, Q86TH4, Q9NY95
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 21, 2006
Last modified: January 16, 2019
This is version 156 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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