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UniProtKB - Q12794 (HYAL1_HUMAN)
Protein
Hyaluronidase-1
Gene
HYAL1
Organism
Homo sapiens (Human)
Status
Functioni
May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.
1 PublicationCatalytic activityi
- Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. EC:3.2.1.35
pH dependencei
Optimum pH is about 3.8.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 131 | Proton donorCurated | 1 |
GO - Molecular functioni
- hyaluronan synthase activity Source: UniProtKB
- hyalurononglucosaminidase activity Source: UniProtKB
GO - Biological processi
- carbohydrate metabolic process Source: InterPro
- cartilage development Source: UniProtKB
- cellular response to fibroblast growth factor stimulus Source: UniProtKB
- cellular response to interleukin-1 Source: UniProtKB
- cellular response to pH Source: UniProtKB
- cellular response to platelet-derived growth factor stimulus Source: UniProtKB
- cellular response to tumor necrosis factor Source: UniProtKB
- cellular response to UV-B Source: UniProtKB
- chondroitin sulfate catabolic process Source: Reactome
- embryonic skeletal joint morphogenesis Source: Ensembl
- hyaluronan biosynthetic process Source: UniProtKB
- hyaluronan catabolic process Source: UniProtKB
- hyaluronan metabolic process Source: UniProtKB
- inflammatory response Source: UniProtKB
- negative regulation of cell growth Source: UniProtKB
- positive regulation of angiogenesis Source: UniProtKB
- positive regulation of cell adhesion Source: UniProtKB
- positive regulation of cell growth Source: UniProtKB
- positive regulation of epithelial cell migration Source: UniProtKB
- positive regulation of epithelial cell proliferation Source: UniProtKB
- positive regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
- positive regulation of growth Source: UniProtKB
- positive regulation of hyaluranon cable assembly Source: UniProtKB
- response to antibiotic Source: UniProtKB
- response to reactive oxygen species Source: UniProtKB
- response to virus Source: UniProtKB
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Enzyme and pathway databases
BRENDAi | 3.2.1.35, 2681 4.2.2.1, 2681 |
PathwayCommonsi | Q12794 |
Reactomei | R-HSA-2024101, CS/DS degradation R-HSA-2160916, Hyaluronan uptake and degradation R-HSA-2206280, MPS IX - Natowicz syndrome |
SignaLinki | Q12794 |
SIGNORi | Q12794 |
Protein family/group databases
CAZyi | GH56, Glycoside Hydrolase Family 56 |
Names & Taxonomyi
Protein namesi | Recommended name: Hyaluronidase-1 (EC:3.2.1.35)Short name: Hyal-1 Alternative name(s): Hyaluronoglucosaminidase-1 Lung carcinoma protein 1 Short name: LuCa-1 |
Gene namesi | Name:HYAL1 Synonyms:LUCA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:5320, HYAL1 |
MIMi | 607071, gene |
neXtProti | NX_Q12794 |
VEuPathDBi | HostDB:ENSG00000114378 |
Subcellular locationi
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular space Source: UniProtKB
- hyaluranon cable Source: UniProtKB
Lysosome
- lysosomal lumen Source: Reactome
- lysosome Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- cytoplasmic vesicle Source: UniProtKB
Keywords - Cellular componenti
Lysosome, SecretedPathology & Biotechi
Involvement in diseasei
Mucopolysaccharidosis 9 (MPS9)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA lysosomal storage disease characterized by high hyaluronan concentration in the serum. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023643 | 268 | E → K in MPS9. 1 PublicationCorresponds to variant dbSNP:rs104893743EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, MucopolysaccharidosisOrganism-specific databases
DisGeNETi | 3373 |
MalaCardsi | HYAL1 |
MIMi | 601492, phenotype |
OpenTargetsi | ENSG00000114378 |
Orphaneti | 67041, Hyaluronidase deficiency |
PharmGKBi | PA29571 |
Miscellaneous databases
Pharosi | Q12794, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4528 |
DrugBanki | DB08818, Hyaluronic acid |
Genetic variation databases
BioMutai | HYAL1 |
DMDMi | 74735617 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000042622 | 22 – 435 | Hyaluronidase-1Add BLAST | 414 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 43 ↔ 333 | 1 Publication | ||
Glycosylationi | 99 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 207 ↔ 221 | 1 Publication | ||
Glycosylationi | 216 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 350 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 358 ↔ 369 | 1 Publication | ||
Disulfide bondi | 363 ↔ 418 | 1 Publication | ||
Disulfide bondi | 420 ↔ 429 | 1 Publication |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q12794 |
MassIVEi | Q12794 |
MaxQBi | Q12794 |
PaxDbi | Q12794 |
PeptideAtlasi | Q12794 |
PRIDEi | Q12794 |
ProteomicsDBi | 58936 [Q12794-1] 58937 [Q12794-2] 58938 [Q12794-3] 58939 [Q12794-4] 58940 [Q12794-5] 58941 [Q12794-6] 58942 [Q12794-7] |
PTM databases
GlyGeni | Q12794, 3 sites |
iPTMneti | Q12794 |
PhosphoSitePlusi | Q12794 |
Expressioni
Tissue specificityi
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.3 Publications
Gene expression databases
Bgeei | ENSG00000114378, Expressed in liver and 115 other tissues |
ExpressionAtlasi | Q12794, baseline and differential |
Genevisiblei | Q12794, HS |
Organism-specific databases
HPAi | ENSG00000114378, Tissue enhanced (liver, lymphoid tissue) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 109603, 35 interactors |
IntActi | Q12794, 8 interactors |
STRINGi | 9606.ENSP00000266031 |
Chemistry databases
BindingDBi | Q12794 |
Miscellaneous databases
RNActi | Q12794, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q12794 |
SMRi | Q12794 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q12794 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 354 – 430 | EGF-likeAdd BLAST | 77 |
Sequence similaritiesi
Belongs to the glycosyl hydrolase 56 family.Curated
Keywords - Domaini
EGF-like domain, SignalPhylogenomic databases
eggNOGi | ENOG502QTUU, Eukaryota |
GeneTreei | ENSGT01020000230364 |
HOGENOMi | CLU_036366_0_0_1 |
InParanoidi | Q12794 |
OMAi | GQCPLGI |
PhylomeDBi | Q12794 |
TreeFami | TF321598 |
Family and domain databases
Gene3Di | 3.20.20.70, 1 hit |
InterProi | View protein in InterPro IPR013785, Aldolase_TIM IPR017853, Glycoside_hydrolase_SF IPR018155, Hyaluronidase |
PANTHERi | PTHR11769, PTHR11769, 1 hit |
Pfami | View protein in Pfam PF01630, Glyco_hydro_56, 1 hit |
PIRSFi | PIRSF038193, Hyaluronidase, 1 hit |
PRINTSi | PR00846, GLHYDRLASE56 |
SUPFAMi | SSF51445, SSF51445, 1 hit |
PROSITEi | View protein in PROSITE PS01186, EGF_2, 1 hit |
s (7+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q12794-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD
60 70 80 90 100
VDVSVFDVVA NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA
110 120 130 140 150
SLIAHLARTF QDILAAIPAP DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR
160 170 180 190 200
SRALVQAQHP DWPAPQVEAV AQDQFQGAAR AWMAGTLQLG RALRPRGLWG
210 220 230 240 250
FYGFPDCYNY DFLSPNYTGQ CPSGIRAQND QLGWLWGQSR ALYPSIYMPA
260 270 280 290 300
VLEGTGKSQM YVQHRVAEAF RVAVAAGDPN LPVLPYVQIF YDTTNHFLPL
310 320 330 340 350
DELEHSLGES AAQGAAGVVL WVSWENTRTK ESCQAIKEYM DTTLGPFILN
360 370 380 390 400
VTSGALLCSQ ALCSGHGRCV RRTSHPKALL LLNPASFSIQ LTPGGGPLSL
410 420 430
RGALSLEDQA QMAVEFKCRC YPGWQAPWCE RKSMW
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JB49 | C9JB49_HUMAN | Hyaluronidase | HYAL1 | 69 | Annotation score: | ||
C9JRK1 | C9JRK1_HUMAN | Hyaluronidase | HYAL1 | 103 | Annotation score: |
Sequence cautioni
The sequence AAH25774 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 3 | A → G in CAG46731 (Ref. 6) Curated | 1 | |
Sequence conflicti | 191 | R → G in AAD53277 (PubMed:8603390).Curated | 1 | |
Sequence conflicti | 300 | L → Q in AAD24460 (PubMed:10702795).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023643 | 268 | E → K in MPS9. 1 PublicationCorresponds to variant dbSNP:rs104893743EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015915 | 1 – 339 | Missing in isoform 6. 1 PublicationAdd BLAST | 339 | |
Alternative sequenceiVSP_015916 | 1 – 259 | Missing in isoform 5. 1 PublicationAdd BLAST | 259 | |
Alternative sequenceiVSP_015917 | 1 – 182 | Missing in isoform 3. 1 PublicationAdd BLAST | 182 | |
Alternative sequenceiVSP_015918 | 208 – 209 | YN → SG in isoform 4. 1 Publication | 2 | |
Alternative sequenceiVSP_015919 | 210 – 435 | Missing in isoform 4. 1 PublicationAdd BLAST | 226 | |
Alternative sequenceiVSP_015920 | 301 – 330 | Missing in isoform 2. 2 PublicationsAdd BLAST | 30 | |
Alternative sequenceiVSP_015921 | 331 – 336 | ESCQAI → VSLGLA in isoform 7. 1 Publication | 6 | |
Alternative sequenceiVSP_015922 | 337 – 435 | Missing in isoform 7. 1 PublicationAdd BLAST | 99 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2PE4 | X-ray | 2.00 | A | 22-435 | [»] | |
AlphaFoldDBi | Q12794 | |||||
SMRi | Q12794 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109603, 35 interactors |
IntActi | Q12794, 8 interactors |
STRINGi | 9606.ENSP00000266031 |
Chemistry databases
BindingDBi | Q12794 |
ChEMBLi | CHEMBL4528 |
DrugBanki | DB08818, Hyaluronic acid |
Protein family/group databases
CAZyi | GH56, Glycoside Hydrolase Family 56 |
PTM databases
GlyGeni | Q12794, 3 sites |
iPTMneti | Q12794 |
PhosphoSitePlusi | Q12794 |
Genetic variation databases
BioMutai | HYAL1 |
DMDMi | 74735617 |
Proteomic databases
jPOSTi | Q12794 |
MassIVEi | Q12794 |
MaxQBi | Q12794 |
PaxDbi | Q12794 |
PeptideAtlasi | Q12794 |
PRIDEi | Q12794 |
ProteomicsDBi | 58936 [Q12794-1] 58937 [Q12794-2] 58938 [Q12794-3] 58939 [Q12794-4] 58940 [Q12794-5] 58941 [Q12794-6] 58942 [Q12794-7] |
Protocols and materials databases
Antibodypediai | 1046, 288 antibodies from 30 providers |
DNASUi | 3373 |
Genome annotation databases
Organism-specific databases
CTDi | 3373 |
DisGeNETi | 3373 |
GeneCardsi | HYAL1 |
HGNCi | HGNC:5320, HYAL1 |
HPAi | ENSG00000114378, Tissue enhanced (liver, lymphoid tissue) |
MalaCardsi | HYAL1 |
MIMi | 601492, phenotype 607071, gene |
neXtProti | NX_Q12794 |
OpenTargetsi | ENSG00000114378 |
Orphaneti | 67041, Hyaluronidase deficiency |
PharmGKBi | PA29571 |
VEuPathDBi | HostDB:ENSG00000114378 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTUU, Eukaryota |
GeneTreei | ENSGT01020000230364 |
HOGENOMi | CLU_036366_0_0_1 |
InParanoidi | Q12794 |
OMAi | GQCPLGI |
PhylomeDBi | Q12794 |
TreeFami | TF321598 |
Enzyme and pathway databases
BRENDAi | 3.2.1.35, 2681 4.2.2.1, 2681 |
PathwayCommonsi | Q12794 |
Reactomei | R-HSA-2024101, CS/DS degradation R-HSA-2160916, Hyaluronan uptake and degradation R-HSA-2206280, MPS IX - Natowicz syndrome |
SignaLinki | Q12794 |
SIGNORi | Q12794 |
Miscellaneous databases
BioGRID-ORCSi | 3373, 7 hits in 1076 CRISPR screens |
EvolutionaryTracei | Q12794 |
GeneWikii | HYAL1 |
GenomeRNAii | 3373 |
Pharosi | Q12794, Tbio |
PROi | PR:Q12794 |
RNActi | Q12794, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114378, Expressed in liver and 115 other tissues |
ExpressionAtlasi | Q12794, baseline and differential |
Genevisiblei | Q12794, HS |
Family and domain databases
Gene3Di | 3.20.20.70, 1 hit |
InterProi | View protein in InterPro IPR013785, Aldolase_TIM IPR017853, Glycoside_hydrolase_SF IPR018155, Hyaluronidase |
PANTHERi | PTHR11769, PTHR11769, 1 hit |
Pfami | View protein in Pfam PF01630, Glyco_hydro_56, 1 hit |
PIRSFi | PIRSF038193, Hyaluronidase, 1 hit |
PRINTSi | PR00846, GLHYDRLASE56 |
SUPFAMi | SSF51445, SSF51445, 1 hit |
PROSITEi | View protein in PROSITE PS01186, EGF_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HYAL1_HUMAN | |
Accessioni | Q12794Primary (citable) accession number: Q12794 Secondary accession number(s): Q6FH23 Q9UNI8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 25, 2005 |
Last sequence update: | March 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 178 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families