EN1
entrez
2019
canonical
uniprot
Q05925
canonical
ensembl
ENSG00000163064
resolver
ensp
ENSP00000295206
resolver
enst
ENST00000295206
resolver
genesymbol
EN1
resolver
hgnc
HGNC:3342
resolver
uniprot
Q4ZG44
resolver
uniprot_entry
HME1_HUMAN
resolver
uniprot_sec
Q4ZG44
resolver
amino_acid_sequence
MEEQQPEPKSQRDSALGAAAAATPGGLSLSLSPGASGSSGSGSDGDSVPVSPQPAPPSPPAAPCLPPLAHHPHLPPHPPPPPPQHLAAPAHQPQPAAQLHRTTNFFIDNILRPDFGCKKEQPPPQLLVAAAARGGAGGGGRVERDRGQTAAGRDPVHPLGTRAPGAASLLCAPDANCGPPDGSQPAAAGAGASKAGNPAAAAAAAAAAVAAAAAAAAAKPSDTGGGGSGGGAGSPGAQGTKYPEHGNPAILLMGSANGGPVVKTDSQQPLVWPAWVYCTRYSDRPSSGPRTRKLKKKKNEKEDKRPRTAFTAEQLQRLKAEFQANRYITEQRRQTLAQELSLNESQIKIWFQNKRAKIKKATGIKNGLALHLMAQGLYNHSTTTVQDKDESE
uniprot
proteins
disease_involvement
DISEASE: ENDOVE syndrome, limb-only type (ENDOVESL) [MIM:619217]: An autosomal recessive disorder characterized by severe shortening and deformation of the legs and feet, 3/4 syndactyly of the hands, and toenails partially displaced to plantar surface. Radiographs show normal femora but severely shortened tibiae, triangular fibulae and malformed or absent bones in the feet. In addition, genitourinary anomalies have been observed. {ECO:0000269|PubMed:33568816}. Note=The gene represented in this entry is involved in disease pathogenesis. Homozygous structural variants on chromosome 2 located 300 kb upstream of EN1 result in altered EN1 expression with pathological consequences. {ECO:0000269|PubMed:33568816}.; DISEASE: ENDOVE syndrome, limb-brain type (ENDOVESLB) [MIM:619218]: An autosomal recessive disorder characterized by marked mesomelic shortening of the lower limbs, severe hypoplasia of the tibia and fibula, absent talus, and rudimentary and short foot bones. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. Affected individuals manifest neurologic symptoms including seizures and generalized hypotonia. Brain imaging reveals absence of the cerebellum and hypoplasia of the brain stem. {ECO:0000269|PubMed:33568816}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb. {ECO:0000250|UniProtKB:P09065}.
uniprot
proteins
mass_dalton
40115
uniprot
proteins
protein_family
Engrailed homeobox family
uniprot
proteins
pubmed
1363401
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
33568816
uniprot
proteins
sequence_length
392
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins