HYAL1 - hyaluronidase 1 Gene

Also Known as MPS9; NAT6; LUCA1; HYAL-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3373

About HYAL1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:50,299,893-50,312,381 (from NCBI)

This gene has 9 transcripts (splice variants), 188 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 19.6), spleen (RPKM 16.7) and 10 other tissues.

Summary

This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HYAL1 Products (5)

mRNA	Protein	Name
NM_033159.4	NP_149349.2	hyaluronidase-1 isoform 1 precursor
NM_153281.2	NP_695013.1	hyaluronidase-1 isoform 1 precursor
NM_153282.3	NP_695014.1	hyaluronidase-1 isoform 2 precursor
NM_153283.3	NP_695015.1	hyaluronidase-1 isoform 3
NM_153285.3	NP_695017.1	hyaluronidase-1 isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables hyalurononglucosaminidase activity	IDA IDA: Inferred from direct assay	12084718	GOA
enables hyalurononglucosaminidase activity	IDA IDA: Inferred from direct assay	9223416	GOA
NOT enables virus receptor activity	IDA IDA: Inferred from direct assay	11296287	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cartilage development	IEP IEP: Inferred from expression pattern	11944887	GOA
involved in cellular response to UV-B	IDA IDA: Inferred from direct assay	21699545	GOA
involved in cellular response to fibroblast growth factor stimulus	IDA IDA: Inferred from direct assay	19577615	GOA
involved in cellular response to interleukin-1	IDA IDA: Inferred from direct assay	18390475	GOA
involved in cellular response to pH	IDA IDA: Inferred from direct assay	19478093	GOA
involved in cellular response to platelet-derived growth factor stimulus	IDA IDA: Inferred from direct assay	17324121	GOA
involved in cellular response to tumor necrosis factor	IEP IEP: Inferred from expression pattern	18390475	GOA
involved in hyaluronan catabolic process	IDA IDA: Inferred from direct assay	11296287	GOA
involved in hyaluronan metabolic process	IDA IDA: Inferred from direct assay	19478093	GOA
involved in inflammatory response	IDA IDA: Inferred from direct assay	18390475	GOA
involved in negative regulation of cell growth	IDA IDA: Inferred from direct assay	18725949	GOA
involved in positive regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	20473947	GOA
involved in positive regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	20473947	GOA
involved in positive regulation of cell growth	IMP IMP: Inferred from mutant phenotype	20473947	GOA
involved in positive regulation of hyaluranon cable assembly	IDA IDA: Inferred from direct assay	16900089	GOA
involved in response to antibiotic	IDA IDA: Inferred from direct assay	11944887	GOA
involved in response to reactive oxygen species	IDA IDA: Inferred from direct assay	20554532	GOA
involved in response to virus	IDA IDA: Inferred from direct assay	11296287	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	18390475	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	9223416	GOA
located in hyaluranon cable	IDA IDA: Inferred from direct assay	16900089	GOA
located in lysosome	IDA IDA: Inferred from direct assay	16600643	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HYAL1 Protein Structure

Glyco_hydro_56

0
100
200
300
400
435 a.a.

Protein Preferred Names	Protein Names
hyaluronidase-1	hyaluronoglucosaminidase 1

Recombinant HYAL1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70411	Hyaluronidase-1/HYAL1 Protein, Human (HEK293, His, solution)	Q12794-1 (F22-W435)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Mucopolysaccharidosis, Type Ix	Mucopolysaccharidosis Type Ix Hyaluronidase Deficiency MPS9 Mps Ix Mucopolysaccharidosis Ix Mpsix Mucopolysaccharidosis Type 9 Mucopolysaccharidosis 9
Natowicz Syndrome
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Mucolipidoses
Polyposis Syndrome, Hereditary Mixed, 2	HMPS2 Hereditary Mixed Polyposis Syndrome 2 Polyposis Syndrome, Mixed Hereditary 2 Polyposis Syndrome, Hereditary Mixed, Type 2
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Mucopolysaccharidosis, Type Iiid	Mucopolysaccharidosis Type Iiid MPS3D Mps Iiid N-Acetylglucosamine-6-Sulfatase Deficiency Sanfilippo Syndrome D Gns Deficiency Mucopolysaccharidosis Type 3d Sanfilippo Syndrome Type D Glucosamine N-Acetyl-6-Sulfatase Deficiency Mpsiiid Mps 3d Mucopoly-Saccharidosis Type 3d N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency Mps Iii-D Mucopolysaccharidosis 3d Sanfilippo D Syndrome Mps Iii D
Mucopolysaccharidosis, Type Ivb	Mucopolysaccharidosis Type Ivb Mps Ivb MPS4B Morquio Syndrome B Beta-D-Galactosidase Deficiency Morquio Disease Type B Mps 4b Mucopolysaccharidosis Type 4b Mpsivb Morquio Disease, Type B Mucopolysaccharidosis Type Iv-B Mucopolysaccharidosis 4b Morquio'S Syndrome B Mps-Ivb
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Mucopolysaccharidosis, Type Iiic	Mucopolysaccharidosis Type Iiic MPS3C Mps Iiic Sanfilippo Syndrome C Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency Hgsnat Deficiency Mpsiiic Mucopolysaccharidosis Type 3c Sanfilippo Syndrome Type C Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency Mucopoly-Saccharidosis Type 3c Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency Mps 3c Mps Iii-C Mucopolysaccharidosis 3c Mucopolysaccharidosis Iii Mps Iii C
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Mucopolysaccharidosis, Type Iva	Mps Iva Galns Deficiency MPS4A Morquio A Disease Galactosamine-6-Sulfatase Deficiency Morquio Syndrome A Mucopolysaccharidosis Iva Mucopolysaccharidosis Type Iva Mpsiva Morquio Disease Type A Mucopolysaccharidosis Type 4a N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency Morquio Syndrome Type A Mps 4a Morquio Disease, Type A Mucopolysaccharidosis 4a Morquio'S Syndrome A Mps Iv A Mucopolysaccharidosis Iv Mucopolysaccharidosis, Mps-Iv-A
Mucopolysaccharidosis, Type Vi	Maroteaux-Lamy Syndrome Arylsulfatase B Deficiency Mucopolysaccharidosis Type Vi Mps Vi Mucopolysaccharidosis Vi Mucopolysaccharidosis Type 6 MPS6 Arsb Deficiency N-Acetylgalactosamine-4-Sulfatase Deficiency Mucopolysaccharidosis 6 N-Acetylgalactosamine 4-Sulfatase Deficiency Deficiency Of N-Acetylgalactosamine-4-Sulfatase Maroteaux - Lamy Syndrome Mps Vi - Maroteaux-Lamy Syndrome Mps 6 Maroteaux Lamy Syndrome Mucopoly-Saccharidosis Type Vi Polydystrophic Dwarfism Asb Deficiency Mpsvi Maroteaux-Lamy Disease Arsb - [Arylsulfatase B] Deficiency
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06495	HYAL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13628	SPAM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19442	Hyal1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25934	Hyal1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HYAL1	VGNC	VGNC:54314
Macaca mulatta	HYAL1	VGNC	VGNC:73547
Rattus norvegicus	HYAL1	RGD	RGD:1303060
Mus musculus	HYAL1	MGD	MGI:96298
Others	HYAL1	NCBI