HPSE2
entrez
60495
canonical
uniprot
Q8WWQ2
canonical
ensembl
ENSG00000172987
resolver
ensp
ENSP00000359577
resolver
ensp
ENSP00000359580
resolver
ensp
ENSP00000359583
resolver
ensp
ENSP00000384384
resolver
ensp
ENSP00000485916
resolver
genesymbol
HPSE2
resolver
genesymbol_syn
HPA2
resolver
hgnc
HGNC:18374
resolver
uniprot
Q2M1H9
resolver
uniprot
Q5VUH4
resolver
uniprot
Q5VUH5
resolver
uniprot
Q5VUH6
resolver
uniprot
Q8WWQ1
resolver
uniprot
Q9HB37
resolver
uniprot
Q9HB38
resolver
uniprot
Q9HB39
resolver
uniprot_entry
HPSE2_HUMAN
resolver
uniprot_entry
Q2M1H9_HUMAN
resolver
uniprot_sec
Q5VUH4
resolver
uniprot_sec
Q5VUH5
resolver
uniprot_sec
Q5VUH6
resolver
uniprot_sec
Q8WWQ1
resolver
uniprot_sec
Q9HB37
resolver
uniprot_sec
Q9HB38
resolver
uniprot_sec
Q9HB39
resolver
amino_acid_sequence
MRVLCAFPEAMPSSNSRPPACLAPGALYLALLLHLSLSSQAGDRRPLPVDRAAGLKEKTLILLDVSTKNPVRTVNENFLSLQLDPSIIHDGWLDFLSSKRLVTLARGLSPAFLRFGGKRTDFLQFQNLRNPAKSRGGPGPDYYLKNYEDDIVRSDVALDKQKGCKIAQHPDVMLELQREKAAQMHLVLLKEQFSNTYSNLILTARSLDKLYNFADCSGLHLIFALNALRRNPNNSWNSSSALSLLKYSASKKYNISWELGNEPNNYRTMHGRAVNGSQLGKDYIQLKSLLQPIRIYSRASLYGPNIGRPRKNVIALLDGFMKVAGSTVDAVTWQHCYIDGRVVKVMDFLKTRLLDTLSDQIRKIQKVVNTYTPGKKIWLEGVVTTSAGGTNNLSDSYAAGFLWLNTLGMLANQGIDVVIRHSFFDHGYNHLVDQNFNPLPDYWLSLLYKRLIGPKVLAVHVAGLQRKPRPGRVIRDKLRIYAHCTNHHNHNYVRGSITLFIINLHRSRKKIKLAGTLRDKLVHQYLLQPYGQEGLKSKSVQLNGQPLVMVDDGTLPELKPRPLRAGRTLVIPPVTMGFYVVKNVNALACRYR
uniprot
proteins
disease_involvement
DISEASE: Urofacial syndrome 1 (UFS1) [MIM:236730]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. {ECO:0000269|PubMed:20560209, ECO:0000269|PubMed:20560210}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro). {ECO:0000269|PubMed:20576607}.
uniprot
proteins
mass_dalton
66596
uniprot
proteins
protein_family
Glycosyl hydrolase 79 family
uniprot
proteins
pubmed
11027606
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
20560209
uniprot
proteins
pubmed
20560210
uniprot
proteins
pubmed
20576607
uniprot
proteins
sequence_length
592
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:20576607}.
uniprot
proteins