Q12794 · HYAL1_HUMAN
- ProteinHyaluronidase-1
- GeneHYAL1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids435 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.
Catalytic activity
pH Dependence
Optimum pH is about 3.8.
Features
Showing features for active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 131 | Proton donor | ||||
Sequence: E |
GO annotations
Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameHyaluronidase-1
- EC number
- Short namesHyal-1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ12794
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Mucopolysaccharidosis 9 (MPS9)
- Note
- DescriptionA 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.
- See alsoMIM:601492
Natural variants in MPS9
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_023643 | 268 | E>K | in MPS9; dbSNP:rs104893743 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_023643 | 268 | in MPS9; dbSNP:rs104893743 | |||
Sequence: E → K |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 579 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, disulfide bond, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-21 | |||||
Sequence: MAAHLLPICALFLTLLDMAQG | ||||||
Chain | PRO_0000042622 | 22-435 | Hyaluronidase-1 | |||
Sequence: FRGPLLPNRPFTTVWNANTQWCLERHGVDVDVSVFDVVANPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASLIAHLARTFQDILAAIPAPDFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHPDWPAPQVEAVAQDQFQGAARAWMAGTLQLGRALRPRGLWGFYGFPDCYNYDFLSPNYTGQCPSGIRAQNDQLGWLWGQSRALYPSIYMPAVLEGTGKSQMYVQHRVAEAFRVAVAAGDPNLPVLPYVQIFYDTTNHFLPLDELEHSLGESAAQGAAGVVLWVSWENTRTKESCQAIKEYMDTTLGPFILNVTSGALLCSQALCSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKCRCYPGWQAPWCERKSMW | ||||||
Disulfide bond | 43↔333 | |||||
Sequence: CLERHGVDVDVSVFDVVANPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASLIAHLARTFQDILAAIPAPDFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHPDWPAPQVEAVAQDQFQGAARAWMAGTLQLGRALRPRGLWGFYGFPDCYNYDFLSPNYTGQCPSGIRAQNDQLGWLWGQSRALYPSIYMPAVLEGTGKSQMYVQHRVAEAFRVAVAAGDPNLPVLPYVQIFYDTTNHFLPLDELEHSLGESAAQGAAGVVLWVSWENTRTKESC | ||||||
Glycosylation | 99 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 207↔221 | |||||
Sequence: CYNYDFLSPNYTGQC | ||||||
Glycosylation | 216 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 350 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 358↔369 | |||||
Sequence: CSQALCSGHGRC | ||||||
Disulfide bond | 363↔418 | |||||
Sequence: CSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKC | ||||||
Disulfide bond | 420↔429 | |||||
Sequence: CYPGWQAPWC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in the liver, kidney and heart. Weakly expressed in lung, placenta and skeletal muscle. No expression detected in adult brain. Isoform 1 is expressed only in bladder and prostate cancer cells, G2/G3 bladder tumor tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5 and isoform 6 are expressed in normal bladder and bladder tumor tissues.
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 354-430 | EGF-like | ||||
Sequence: GALLCSQALCSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKCRCYPGWQAPWCE |
Sequence similarities
Belongs to the glycosyl hydrolase 56 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 7 isoforms produced by Alternative splicing.
Q12794-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length435
- Mass (Da)48,368
- Last updated2001-03-01 v2
- Checksum9C2B2D8DB361E0BB
Q12794-2
- Name2
- SynonymsHYAl1v1
- NoteEnzymatically inactive.
- Differences from canonical
- 301-330: Missing
Q12794-3
- Name3
- SynonymsHYAl1v2
- NoteEnzymatically inactive.
- Differences from canonical
- 1-182: Missing
Q12794-4
- Name4
- SynonymsHYAl1v3
- NoteEnzymatically inactive.
Q12794-5
- Name5
- SynonymsHYAl1v4
- NoteEnzymatically inactive.
- Differences from canonical
- 1-259: Missing
Q12794-6
- Name6
- SynonymsHYAl1v5
- NoteEnzymatically inactive.
- Differences from canonical
- 1-339: Missing
Q12794-7
- Name7
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_015917 | 1-182 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_015916 | 1-259 | in isoform 5 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_015915 | 1-339 | in isoform 6 | |||
Sequence: Missing | ||||||
Sequence conflict | 3 | in Ref. 6; CAG46731 | ||||
Sequence: A → G | ||||||
Sequence conflict | 191 | in Ref. 1; AAD53277 | ||||
Sequence: R → G | ||||||
Alternative sequence | VSP_015918 | 208-209 | in isoform 4 | |||
Sequence: YN → SG | ||||||
Alternative sequence | VSP_015919 | 210-435 | in isoform 4 | |||
Sequence: Missing | ||||||
Sequence conflict | 300 | in Ref. 3; AAD24460 | ||||
Sequence: L → Q | ||||||
Alternative sequence | VSP_015920 | 301-330 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_015921 | 331-336 | in isoform 7 | |||
Sequence: ESCQAI → VSLGLA | ||||||
Alternative sequence | VSP_015922 | 337-435 | in isoform 7 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U03056 EMBL· GenBank· DDBJ | AAD09137.2 EMBL· GenBank· DDBJ | mRNA | ||
U96078 EMBL· GenBank· DDBJ | AAD04190.1 EMBL· GenBank· DDBJ | mRNA | ||
AF118821 EMBL· GenBank· DDBJ | AAD24460.1 EMBL· GenBank· DDBJ | mRNA | ||
AF502904 EMBL· GenBank· DDBJ | AAM60770.1 EMBL· GenBank· DDBJ | mRNA | ||
AF502905 EMBL· GenBank· DDBJ | AAM60771.1 EMBL· GenBank· DDBJ | mRNA | ||
AF502906 EMBL· GenBank· DDBJ | AAM60772.1 EMBL· GenBank· DDBJ | mRNA | ||
AF502907 EMBL· GenBank· DDBJ | AAM60773.1 EMBL· GenBank· DDBJ | mRNA | ||
AF502908 EMBL· GenBank· DDBJ | AAM60774.1 EMBL· GenBank· DDBJ | mRNA | ||
AF173154 EMBL· GenBank· DDBJ | AAD53277.1 EMBL· GenBank· DDBJ | mRNA | ||
CR541933 EMBL· GenBank· DDBJ | CAG46731.1 EMBL· GenBank· DDBJ | mRNA | ||
AC002455 EMBL· GenBank· DDBJ | AAB67046.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U73167 EMBL· GenBank· DDBJ | AAC02730.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC025774 EMBL· GenBank· DDBJ | AAH25774.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
BC035695 EMBL· GenBank· DDBJ | AAH35695.1 EMBL· GenBank· DDBJ | mRNA |