ECEL1
entrez
9427
canonical
uniprot
O95672
canonical
ensembl
ENSG00000171551
resolver
ensp
ENSP00000302051
resolver
ensp
ENSP00000386333
resolver
genesymbol
ECEL1
resolver
genesymbol_syn
XCE
resolver
hgnc
HGNC:3147
resolver
uniprot
Q45UD9
resolver
uniprot
Q53RF9
resolver
uniprot
Q6UW86
resolver
uniprot
Q86TH4
resolver
uniprot
Q9NY95
resolver
uniprot_entry
ECEL1_HUMAN
resolver
uniprot_sec
Q45UD9
resolver
uniprot_sec
Q53RF9
resolver
uniprot_sec
Q6UW86
resolver
uniprot_sec
Q86TH4
resolver
uniprot_sec
Q9NY95
resolver
amino_acid_sequence
MEPPYSLTAHYDEFQEVKYVSRCGAGGARGASLPPGFPLGAARSATGARSGLPRWNRREVCLLSGLVFAAGLCAILAAMLALKYLGPVAAGGGACPEGCPERKAFARAARFLAANLDASIDPCQDFYSFACGGWLRRHAIPDDKLTYGTIAAIGEQNEERLRRLLARPGGGPGGAAQRKVRAFFRSCLDMREIERLGPRPMLEVIEDCGGWDLGGAEERPGVAARWDLNRLLYKAQGVYSAAALFSLTVSLDDRNSSRYVIRIDQDGLTLPERTLYLAQDEDSEKILAAYRVFMERVLSLLGADAVEQKAQEILQVEQQLANITVSEHDDLRRDVSSMYNKVTLGQLQKITPHLRWKWLLDQIFQEDFSEEEEVVLLATDYMQQVSQLIRSTPHRVLHNYLVWRVVVVLSEHLSPPFREALHELAQEMEGSDKPQELARVCLGQANRHFGMALGALFVHEHFSAASKAKVQQLVEDIKYILGQRLEELDWMDAETRAAARAKLQYMMVMVGYPDFLLKPDAVDKEYEFEVHEKTYFKNILNSIRFSIQLSVKKIRQEVDKSTWLLPPQALNAYYLPNKNQMVFPAGILQPTLYDPDFPQSLNYGGIGTIIGHELTHGYDDWGGQYDRSGNLLHWWTEASYSRFLRKAECIVRLYDNFTVYNQRVNGKHTLGENIADMGGLKLAYHAYQKWVREHGPEHPLPRLKYTHDQLFFIAFAQNWCIKRRSQSIYLQVLTDKHAPEHYRVLGSVSQFEEFGRAFHCPKDSPMNPAHKCSVW
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:23236030, ECO:0000269|PubMed:23261301, ECO:0000269|PubMed:23808592, ECO:0000269|PubMed:23829171}. Note=The disease is caused by variants affecting the gene represented in this entry. ECEL1 mutations have also been found in patients with arthrogryposis, significant ophthalmoplegia, and refractive errors (PubMed:23808592). {ECO:0000269|PubMed:23808592}.
uniprot
proteins
ec_number
3.4.24.-
uniprot
proteins
function
FUNCTION: May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.
uniprot
proteins
mass_dalton
87791
uniprot
proteins
post_translational_modification
PTM: N-glycosylated.
uniprot
proteins
protein_family
Peptidase M13 family
uniprot
proteins
pubmed
10698686
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
23236030
uniprot
proteins
pubmed
23261301
uniprot
proteins
pubmed
23808592
uniprot
proteins
pubmed
23829171
uniprot
proteins
pubmed
9931490
uniprot
proteins
sequence_length
775
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 60..82; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins