EMILIN1
entrez
11117
canonical
uniprot
Q9Y6C2
canonical
ensembl
ENSG00000138080
resolver
ensp
ENSP00000369677
resolver
genesymbol
EMILIN1
resolver
genesymbol_syn
EMI
resolver
hgnc
HGNC:19880
resolver
uniprot
A0A0C4DFX3
resolver
uniprot
A5PL03
resolver
uniprot
H0Y7A0
resolver
uniprot
Q53SY9
resolver
uniprot
Q96G58
resolver
uniprot
Q96IH6
resolver
uniprot
Q9UG76
resolver
uniprot_entry
EMIL1_HUMAN
resolver
uniprot_sec
A0A0C4DFX3
resolver
uniprot_sec
A5PL03
resolver
uniprot_sec
H0Y7A0
resolver
uniprot_sec
Q53SY9
resolver
uniprot_sec
Q96G58
resolver
uniprot_sec
Q96IH6
resolver
uniprot_sec
Q9UG76
resolver
amino_acid_sequence
MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGPQAQIAPRPASRHRNWCAYVVTRTVSCVLEDGVETYVKYQPCAWGQPQCPQSIMYRRFLRPRYRVAYKTVTDMEWRCCQGYGGDDCAESPAPALGPASSTPRPLARPARPNLSGSSAGSPLSGLGGEGPGESEKVQQLEEQVQSLTKELQGLRGVLQGLSGRLAEDVQRAVETAFNGRQQPADAAARPGVHETLNEIQHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRAPAPASAPPGPSEELLRQLEQRLQESCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVEERQRHLAGLAVGRRPPQECCSPELGRRLAELERRLDVVAGSVTVLSGRRGTELGGAAGQGGHPPGYTSLASRLSRLEDRFNSTLGPSEEQEESWPGAPGGLSHWLPAARGRLEQLGGLLANVSGELGGRLDLLEEQVAGAMQACGQLCSGAPGEQDSQVSEILSALERRVLDSEGQLRLVGSGLHTVEAAGEARQATLEGLQEVVGRLQDRVDAQDETAAEFTLRLNLTAARLGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVERCSCPLLPPRGPGAGPGVGGPSRGPLDGFSVFGGSSGSALQALQGELSEVILSFSSLNDSLNELQTTVEGQGADLADLGATKDRIISEINRLQQEATEHATESEERFRGLEEGQAQAGQCPSLEGRLGRLEGVCERLDTVAGGLQGLREGLSRHVAGLWAGLRETNTTSQMQAALLEKLVGGQAGLGRRLGALNSSLQLLEDRLHQLSLKDLTGPAGEAGPPGPPGLQGPPGPAGPPGSPGKDGQEGPIGPPGPQGEQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYYDPETGVFTAPLAGRYLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAESQPSPGTLGVFSLILPLQAGDTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA
uniprot
proteins
disease_involvement
DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 10 (HMND10) [MIM:620080]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND10 is characterized by length-dependent motor neuropathy primarily affecting the lower limbs, and onset of distal muscle weakness and atrophy in early childhood resulting in walking difficulties and gait abnormalities. Some affected individuals have pyramidal signs, including hyperreflexia. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects. {ECO:0000269|PubMed:26462740, ECO:0000269|PubMed:31978608}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Arterial tortuosity-bone fragility syndrome (ATBFS) [MIM:620908]: An autosomal recessive disorder characterized by congenital arterial tortuosity, mainly affecting the aorta and main aortic side branches, aneurysm of the aortic root, and bone fragility resulting in fractures of the ribs, clavicle, acromion, metatarsal, or long bones. Tortuosity of the retinal arteries is present in some patients. Connective tissue features include blue sclerae, mild cutis laxa with a thin and velvety skin, joint hyperlaxity, and arachnodactyly. {ECO:0000269|PubMed:36351433}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in elastic and collagen fibers formation. It is required for EFEMP2 deposition into the extracellular matrix, and collagen network assembly and cross-linking via protein-lysine 6-oxidase/LOX activity (PubMed:36351433). May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved in the processes that regulate vessel assembly. Has cell adhesive capacity. {ECO:0000269|PubMed:36351433}.
uniprot
proteins
mass_dalton
106695
uniprot
proteins
pubmed
10358019
uniprot
proteins
pubmed
10625608
uniprot
proteins
pubmed
11278945
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19023665
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26462740
uniprot
proteins
pubmed
31978608
uniprot
proteins
pubmed
36351433
uniprot
proteins
sequence_length
1016
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:26462740, ECO:0000269|PubMed:31978608}. Note=Found mainly at the interface between amorphous elastin and microfibrils. {ECO:0000303|PubMed:10625608}.
uniprot
proteins