HYAL1
entrez
3373
canonical
uniprot
Q12794
canonical
ensembl
ENSG00000114378
resolver
ensp
ENSP00000346068
resolver
ensp
ENSP00000378575
resolver
ensp
ENSP00000378576
resolver
ensp
ENSP00000390149
resolver
ensp
ENSP00000393358
resolver
ensp
ENSP00000477903
resolver
genesymbol
HYAL1
resolver
genesymbol_syn
LUCA1
resolver
hgnc
HGNC:5320
resolver
uniprot
A0A024R2X3
resolver
uniprot
A0A0S2Z3Q0
resolver
uniprot
A0A0S2Z409
resolver
uniprot
B3KUI5
resolver
uniprot
Q6FH23
resolver
uniprot
Q6PIZ6
resolver
uniprot
Q7KYU2
resolver
uniprot
Q7LE34
resolver
uniprot
Q8NFK5
resolver
uniprot
Q8NFK6
resolver
uniprot
Q8NFK7
resolver
uniprot
Q8NFK8
resolver
uniprot
Q8NFK9
resolver
uniprot
Q93013
resolver
uniprot
Q9UKD5
resolver
uniprot
Q9UNI8
resolver
uniprot_entry
A0A024R2X3_HUMAN
resolver
uniprot_entry
A0A0S2Z3Q0_HUMAN
resolver
uniprot_entry
B3KUI5_HUMAN
resolver
uniprot_entry
HYAL1_HUMAN
resolver
uniprot_sec
A0A0S2Z409
resolver
uniprot_sec
Q6FH23
resolver
uniprot_sec
Q6PIZ6
resolver
uniprot_sec
Q7KYU2
resolver
uniprot_sec
Q7LE34
resolver
uniprot_sec
Q8NFK5
resolver
uniprot_sec
Q8NFK6
resolver
uniprot_sec
Q8NFK7
resolver
uniprot_sec
Q8NFK8
resolver
uniprot_sec
Q8NFK9
resolver
uniprot_sec
Q93013
resolver
uniprot_sec
Q9UKD5
resolver
uniprot_sec
Q9UNI8
resolver
amino_acid_sequence
MAAHLLPICALFLTLLDMAQGFRGPLLPNRPFTTVWNANTQWCLERHGVDVDVSVFDVVANPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASLIAHLARTFQDILAAIPAPDFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHPDWPAPQVEAVAQDQFQGAARAWMAGTLQLGRALRPRGLWGFYGFPDCYNYDFLSPNYTGQCPSGIRAQNDQLGWLWGQSRALYPSIYMPAVLEGTGKSQMYVQHRVAEAFRVAVAAGDPNLPVLPYVQIFYDTTNHFLPLDELEHSLGESAAQGAAGVVLWVSWENTRTKESCQAIKEYMDTTLGPFILNVTSGALLCSQALCSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKCRCYPGWQAPWCERKSMW
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 9 (MPS9) [MIM:601492]: A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS9 is an autosomal recessive form characterized by high hyaluronan concentration in the serum. Clinical features include periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement. {ECO:0000269|PubMed:10339581}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.35
uniprot
proteins
function
FUNCTION: May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth. {ECO:0000269|PubMed:12084718}.
uniprot
proteins
mass_dalton
48368
uniprot
proteins
protein_family
Glycosyl hydrolase 56 family
uniprot
proteins
pubmed
10339581
uniprot
proteins
pubmed
10702795
uniprot
proteins
pubmed
12084718
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17503783
uniprot
proteins
pubmed
8603390
uniprot
proteins
pubmed
9223416
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9223416}. Lysosome {ECO:0000269|PubMed:9223416}.
uniprot
proteins