HYAL3 (hyaluronidase 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 8372
• Gene name: Hyaluronidase 3
• Gene symbol: HYAL3
• Synonyms (NCBI Gene): HYAL-3, LUCA-3, LUCA3
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many

miRNA Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031666	hsa-miR-16-5p	Proteomics	18668040
MIRT1057793	hsa-miR-3166	CLIP-seq
MIRT1057794	hsa-miR-4771	CLIP-seq
MIRT1057795	hsa-miR-1272	CLIP-seq
MIRT1057796	hsa-miR-1322	CLIP-seq
MIRT1057797	hsa-miR-2682	CLIP-seq
MIRT1057798	hsa-miR-3148	CLIP-seq
MIRT1057799	hsa-miR-3164	CLIP-seq
MIRT1057800	hsa-miR-34a	CLIP-seq
MIRT1057801	hsa-miR-34c-5p	CLIP-seq
MIRT1057802	hsa-miR-3609	CLIP-seq
MIRT1057803	hsa-miR-449a	CLIP-seq
MIRT1057804	hsa-miR-449b	CLIP-seq
MIRT1057805	hsa-miR-449c	CLIP-seq
MIRT1057806	hsa-miR-4514	CLIP-seq
MIRT1057807	hsa-miR-4692	CLIP-seq
MIRT1057808	hsa-miR-548ah	CLIP-seq
MIRT1057809	hsa-miR-548t	CLIP-seq
MIRT2682541	hsa-miR-4257	CLIP-seq
MIRT2682542	hsa-miR-4330	CLIP-seq
MIRT2682543	hsa-miR-4512	CLIP-seq
MIRT2682544	hsa-miR-4695-3p	CLIP-seq
MIRT2682545	hsa-miR-4717-3p	CLIP-seq
MIRT2682546	hsa-miR-4757-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001552	Process	Ovarian follicle atresia	IEA
GO:0001552	Process	Ovarian follicle atresia	ISS
GO:0001618	Function	Virus receptor activity	IDA	11296287
GO:0001669	Component	Acrosomal vesicle	IBA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001669	Component	Acrosomal vesicle	ISS
GO:0002080	Component	Acrosomal membrane	IEA
GO:0002080	Component	Acrosomal membrane	ISS
GO:0004415	Function	Hyalurononglucosaminidase activity	IDA	12084718
GO:0004415	Function	Hyalurononglucosaminidase activity	IDA	11944887, 12084718, 17170110, 18390475
GO:0004415	Function	Hyalurononglucosaminidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005764	Component	Lysosome	IDA	16600643
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006954	Process	Inflammatory response	IDA	18390475
GO:0007338	Process	Single fertilization	IEA
GO:0007341	Process	Penetration of zona pellucida	IEA
GO:0007341	Process	Penetration of zona pellucida	ISS
GO:0009615	Process	Response to virus	IDA	11296287
GO:0009615	Process	Response to virus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030214	Process	Hyaluronan catabolic process	IBA
GO:0030214	Process	Hyaluronan catabolic process	IDA	12084718, 21699545
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	18390475
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0033906	Function	Hyaluronoglucuronidase activity	IDA	21699545
GO:0046677	Process	Response to antibiotic	IEP	11944887
GO:0051216	Process	Cartilage development	IEP	11944887
GO:0071347	Process	Cellular response to interleukin-1	IDA	18390475
GO:0071356	Process	Cellular response to tumor necrosis factor	IEP	18390475
GO:0071493	Process	Cellular response to UV-B	IDA	21699545
GO:0097225	Component	Sperm midpiece	IEA
GO:0097225	Component	Sperm midpiece	ISS
GO:2000355	Process	Negative regulation of ovarian follicle development	IEA
GO:2000355	Process	Negative regulation of ovarian follicle development	ISS
GO:2000368	Process	Positive regulation of acrosomal vesicle exocytosis	IEA
GO:2000368	Process	Positive regulation of acrosomal vesicle exocytosis	ISS

Other IDs

• MIM: 604038
• HGNC: 5322
• e!Ensembl: ENSG00000186792

Protein

• UniProt ID: O43820
• Protein name: Hyaluronidase-3 (Hyal-3) (EC 3.2.1.35) (Hyaluronoglucosaminidase-3) (Lung carcinoma protein 3) (LuCa-3)
• Protein function: Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follic
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01630	Glyco_hydro_56	24 → 353	Hyaluronidase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in sperm (PubMed:20586096). Highly expressed in epidermis of the skin, where it is expressed intracellularily in the deep horny layer (at protein level) (PubMed:21699545). Bone marrow, testis and kidney (PubMed:10493834). {EC
• Sequence:

  MTTQLGPALVLGVALCLGCGQPLPQVPERPFSVLWNVPSAHCEARFGVHLPLNALGIIAN
  RGQHFHGQNMTIFYKNQLGLYPYFGPRGTAHNGGIPQALPLDRHLALAAYQIHHSLRPGF
  AGPAVLDWEEWCPLWAGNWGRRRAYQAASWAWAQQVFPDLDPQEQLYKAYTGFEQAARAL
  MEDTLRVAQALRPHGLWGFYHYPACGNGWHSMASNYTGRCHAATLARNTQLHWLWAASSA
  LFPSIYLPPRLPPAHHQAFVRHRLEEAFRVALVGHRHPLPVLAYVRLTHRRSGRFLSQDD
  LVQSIGVSAALGAAGVVLWGDLSLSSSEEECWHLHDYLVDTLGPYVINVTRAAMACSHQR
  CHGHGRCARRDPGQMEAFLHLWPDGSLGDWKSFSCHCYWGWAGPTCQEPRPGPKEAV

• Sequence length: 417

Pathways

KEGG Pathway	Reactome Pathway
Glycosaminoglycan degradation	CS/DS degradation
Metabolic pathways	Hyaluronan uptake and degradation
Lysosome

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AURONEURODENTAL SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma	Carcinoma	BEFREE	23202930		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	20849445		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20849597	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15936804		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	22960332		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22960332		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12684632		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30972813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	15936804		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15936804, 20849597, 30972813		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26352698	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11802201, 15936804		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22960332	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23202930, 35767191	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	12684632		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23549009		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35945500	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

HYAL1 4 shared pathwaysGlycosaminoglycan degradation, Lysosome, CS/DS degradation, Hyaluronan uptake and degradation Related via 4 shared pathways including Glycosaminoglycan degradation, Lysosome. HYAL2 3 shared pathwaysGlycosaminoglycan degradation, Lysosome, Hyaluronan uptake and degradation Related via 3 shared pathways including Glycosaminoglycan degradation, Lysosome. HYAL4 2 shared pathwaysGlycosaminoglycan degradation, Lysosome Related via 2 shared pathways including Glycosaminoglycan degradation, Lysosome. IDS 3 shared pathwaysGlycosaminoglycan degradation, Lysosome, CS/DS degradation Related via 3 shared pathways including Glycosaminoglycan degradation, Lysosome. IDUA 3 shared pathwaysGlycosaminoglycan degradation, Lysosome, CS/DS degradation Related via 3 shared pathways including Glycosaminoglycan degradation, Lysosome.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HYAL1	0	[]	4	["Glycosaminoglycan degradation","Lysosome","CS\/DS degradation","Hyaluronan uptake and degradation"]	0	[]
HYAL2	0	[]	3	["Glycosaminoglycan degradation","Lysosome","Hyaluronan uptake and degradation"]	0	[]
HYAL4	0	[]	2	["Glycosaminoglycan degradation","Lysosome"]	0	[]
IDS	0	[]	3	["Glycosaminoglycan degradation","Lysosome","CS\/DS degradation"]	0	[]
IDUA	0	[]	3	["Glycosaminoglycan degradation","Lysosome","CS\/DS degradation"]	0	[]

Diseases Linked via Similar Genes

Mucopolysaccharidosis Linked via 3 of 5 related genesHYAL1, IDS, IDUA Schizophrenia Linked via 2 of 5 related genesHYAL1, HYAL2 Alzheimer disease Linked via 2 of 5 related genesHYAL2, IDUA Desbuquois syndrome Linked via 2 of 5 related genesIDS, IDUA Hyaluronoglucosaminidase deficiency Linked via 1 of 5 related genesHYAL1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Mucopolysaccharidosis	3	["HYAL1","IDS","IDUA"]
Schizophrenia	2	["HYAL1","HYAL2"]
Alzheimer disease	2	["HYAL2","IDUA"]
Desbuquois syndrome	2	["IDS","IDUA"]
Hyaluronoglucosaminidase deficiency	1	["HYAL1"]