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Tbio Endothelin-converting enzyme-like 1

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

This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

 Comments

Property Summary

NCBI Gene PubMed Count 17
PubMed Score 101.32
PubTator Score 39.45

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 1.9e-02
aldosterone-producing adenoma 664 2.7e-02
pituitary cancer 1972 3.6e-02
Disease Target Count
ARTHROGRYPOSIS, DISTAL, TYPE 5D 1
Disease Target Count
Arthrogryposis, distal, 5D 1

Expression

  Differential Expression (3)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 1.9e-02
aldosterone-producing adenoma 1.221 2.7e-02
pituitary cancer -1.100 3.6e-02

Synonym

Accession O95672 Q45UD9 Q53RF9 Q6UW86 Q86TH4 Q9NY95
Symbols XCE
DA5D
DINE
ECEX

Gene

ECEL1

PANTHER Protein Class (3)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (15)

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 GO Function (3)

 GO Component (1)

 GO Process (2)

 Compartment GO Term (20)

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 MGI Phenotype (5)

 HCA RNA Cell Line (27)

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Pathway (2)

Gene RIF (7)

PMID Text
25708584 Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita.
25173900 Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis)
23829171 Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D.
23808592 A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes.
23261301 Mutations in ECEL1 cause distal arthrogryposis type 5D.
23236030 We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction
18192274 Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene

AA Sequence 

MEPPYSLTAHYDEFQEVKYVSRCGAGGARGASLPPGFPLGAARSATGARSGLPRWNRREVCLLSGLVFAA      1 - 70
GLCAILAAMLALKYLGPVAAGGGACPEGCPERKAFARAARFLAANLDASIDPCQDFYSFACGGWLRRHAI     71 - 140
PDDKLTYGTIAAIGEQNEERLRRLLARPGGGPGGAAQRKVRAFFRSCLDMREIERLGPRPMLEVIEDCGG    141 - 210
WDLGGAEERPGVAARWDLNRLLYKAQGVYSAAALFSLTVSLDDRNSSRYVIRIDQDGLTLPERTLYLAQD    211 - 280
EDSEKILAAYRVFMERVLSLLGADAVEQKAQEILQVEQQLANITVSEHDDLRRDVSSMYNKVTLGQLQKI    281 - 350
TPHLRWKWLLDQIFQEDFSEEEEVVLLATDYMQQVSQLIRSTPHRVLHNYLVWRVVVVLSEHLSPPFREA    351 - 420
LHELAQEMEGSDKPQELARVCLGQANRHFGMALGALFVHEHFSAASKAKVQQLVEDIKYILGQRLEELDW    421 - 490
MDAETRAAARAKLQYMMVMVGYPDFLLKPDAVDKEYEFEVHEKTYFKNILNSIRFSIQLSVKKIRQEVDK    491 - 560
STWLLPPQALNAYYLPNKNQMVFPAGILQPTLYDPDFPQSLNYGGIGTIIGHELTHGYDDWGGQYDRSGN    561 - 630
LLHWWTEASYSRFLRKAECIVRLYDNFTVYNQRVNGKHTLGENIADMGGLKLAYHAYQKWVREHGPEHPL    631 - 700
PRLKYTHDQLFFIAFAQNWCIKRRSQSIYLQVLTDKHAPEHYRVLGSVSQFEEFGRAFHCPKDSPMNPAH    701 - 770
KCSVW                                                                     771 - 775
//

Text Mined References (17)

PMID Year Title
25708584 2015 ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
25173900 2014 The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
23829171 2014 Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
23808592 2014 Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
23261301 2013 Mutations in ECEL1 cause distal arthrogryposis type 5D.
23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
23113990 2012 Dynamic changes in the secondary structure of ECE-1 and XCE account for their different substrate specificities.
18192274 2008 Neuronal injury-inducible gene is synergistically regulated by ATF3, c-Jun, and STAT3 through the interaction with Sp1 in damaged neurons.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14992683 2004 Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12632073 2003 High expression of the novel endothelin-converting enzyme genes, Nbla03145/ECEL1alpha and beta, is associated with favorable prognosis in human neuroblastomas.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11352565 2001 Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1.
10698686 2000 Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration.
9931490 1999 XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS.