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  2. HYAL1 - hyaluronidase 1 Gene

HYAL1 - hyaluronidase 1 Gene

Homo sapiens

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

Gene ID: 3373 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Glyco_hydro_56: Hyaluronidase (23 - 355)

  • 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) Q12794-1 (F22-W435) ≥95%

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

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