Property Summary

NCBI Gene PubMed Count 17
Grant Count 12
R01 Count 9
Funding $2,967,646.83
PubMed Score 101.32
PubTator Score 39.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 0.019
aldosterone-producing adenoma 1.221 0.027
pituitary cancer -1.100 0.036

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).
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