ECM1
entrez
1893
canonical
uniprot
Q16610
canonical
ensembl
ENSG00000143369
resolver
ensp
ENSP00000271630
resolver
ensp
ENSP00000358043
resolver
ensp
ENSP00000358045
resolver
genesymbol
ECM1
resolver
hgnc
HGNC:3153
resolver
uniprot
A0A140VJI7
resolver
uniprot
A8K8S0
resolver
uniprot
B4DW49
resolver
uniprot
B4DY60
resolver
uniprot
O43266
resolver
uniprot
Q5T5G4
resolver
uniprot
Q5T5G5
resolver
uniprot
Q5T5G6
resolver
uniprot
Q8IZ60
resolver
uniprot_entry
A0A140VJI7_HUMAN
resolver
uniprot_entry
ECM1_HUMAN
resolver
uniprot_sec
A8K8S0
resolver
uniprot_sec
B4DW49
resolver
uniprot_sec
B4DY60
resolver
uniprot_sec
O43266
resolver
uniprot_sec
Q5T5G4
resolver
uniprot_sec
Q5T5G5
resolver
uniprot_sec
Q5T5G6
resolver
uniprot_sec
Q8IZ60
resolver
amino_acid_sequence
MGTTARAALVLTYLAVASAASEGGFTATGQRQLRPEHFQEVGYAAPPSPPLSRSLPMDHPDSSQHGPPFEGQSQVQPPPSQEATPLQQEKLLPAQLPAEKEVGPPLPQEAVPLQKELPSLQHPNEQKEGTPAPFGDQSHPEPESWNAAQHCQQDRSQGGWGHRLDGFPPGRPSPDNLNQICLPNRQHVVYGPWNLPQSSYSHLTRQGETLNFLEIGYSRCCHCRSHTNRLECAKLVWEEAMSRFCEAEFSVKTRPHWCCTRQGEARFSCFQEEAPQPHYQLRACPSHQPDISSGLELPFPPGVPTLDNIKNICHLRRFRSVPRNLPATDPLQRELLALIQLEREFQRCCRQGNNHTCTWKAWEDTLDKYCDREYAVKTHHHLCCRHPPSPTRDECFARRAPYPNYDRDILTIDIGRVTPNLMGHLCGNQRVLTKHKHIPGLIHNMTARCCDLPFPEQACCAEEEKLTFINDLCGPRRNIWRDPALCCYLSPGDEQVNCFNINYLRNVALVSGDTENAKGQGEQGSTGGTNISSTSEPKEE
uniprot
proteins
disease_involvement
DISEASE: Lipoid proteinosis (LiP) [MIM:247100]: Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane. {ECO:0000269|PubMed:11929856, ECO:0000269|PubMed:12603844}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity. {ECO:0000269|PubMed:11165938, ECO:0000269|PubMed:11292659, ECO:0000269|PubMed:16512877}.
uniprot
proteins
mass_dalton
60674
uniprot
proteins
pubmed
11165938
uniprot
proteins
pubmed
11292659
uniprot
proteins
pubmed
11929856
uniprot
proteins
pubmed
12603844
uniprot
proteins
pubmed
12604605
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16512877
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19275936
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9367673
uniprot
proteins
pubmed
9501329
uniprot
proteins
sequence_length
540
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
uniprot
proteins