Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3373
Gene name	Hyaluronidase 1
Gene symbol	HYAL1
Synonyms (NCBI Gene)	HYAL-1LUCA1MPS9NAT6
Chromosome	3
Chromosome location	3p21.31
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. Thi

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs374928005	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs1553713075	GCACATACATCTGTGACTTCCCTGTGCCCTCCAGCAC>CGGGCCACACGGAA	Pathogenic	Non coding transcript variant, initiator codon variant, splice acceptor variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs1575517577	C>A	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050233	hsa-miR-25-3p	CLASH	23622248
MIRT1057755	hsa-miR-1203	CLIP-seq
MIRT1057756	hsa-miR-1238	CLIP-seq
MIRT1057757	hsa-miR-216a	CLIP-seq
MIRT1057758	hsa-miR-4305	CLIP-seq
MIRT1057759	hsa-miR-4328	CLIP-seq
MIRT1057760	hsa-miR-4446-3p	CLIP-seq
MIRT1057761	hsa-miR-4633-3p	CLIP-seq
MIRT1057762	hsa-miR-4640-3p	CLIP-seq
MIRT1057763	hsa-miR-4675	CLIP-seq
MIRT1057764	hsa-miR-4708-3p	CLIP-seq
MIRT1057765	hsa-miR-4718	CLIP-seq
MIRT1057766	hsa-miR-4741	CLIP-seq
MIRT1057767	hsa-miR-4765	CLIP-seq
MIRT1057768	hsa-miR-629	CLIP-seq
MIRT1057769	hsa-miR-661	CLIP-seq
MIRT2437667	hsa-miR-219-2-3p	CLIP-seq
MIRT2437668	hsa-miR-326	CLIP-seq
MIRT2437669	hsa-miR-330-5p	CLIP-seq
MIRT2437670	hsa-miR-4302	CLIP-seq
MIRT2437671	hsa-miR-4796-5p	CLIP-seq
MIRT2437672	hsa-miR-516b	CLIP-seq
MIRT2437673	hsa-miR-593	CLIP-seq
MIRT2437674	hsa-miR-765	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
EGR1	Activation	18718911
NFKB1	Activation	18718911
RELA	Activation	18718911
SP1	Repression	18718911

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IDA	20554532
GO:0001618	Function	Virus receptor activity	IDA	11296287
GO:0004415	Function	Hyalurononglucosaminidase activity	IDA	12084718
GO:0004415	Function	Hyalurononglucosaminidase activity	IDA	9223416, 11296287, 11944887, 12084718, 17170110, 18390475, 19478093, 20473947, 20572808, 21695196, 21699545
GO:0004415	Function	Hyalurononglucosaminidase activity	IEA
GO:0004415	Function	Hyalurononglucosaminidase activity	TAS
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	9223416, 17170110, 21695196
GO:0005764	Component	Lysosome	IDA	16600643, 20572808
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS
GO:0006954	Process	Inflammatory response	IDA	18390475
GO:0009615	Process	Response to virus	IDA	11296287
GO:0009615	Process	Response to virus	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030207	Process	Chondroitin sulfate proteoglycan catabolic process	IEA
GO:0030212	Process	Hyaluronan metabolic process	IDA	19478093
GO:0030214	Process	Hyaluronan catabolic process	IBA
GO:0030214	Process	Hyaluronan catabolic process	IDA	11296287, 12084718, 17170110, 20473947, 21695196, 21699545
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	TAS
GO:0030307	Process	Positive regulation of cell growth	IMP	20473947
GO:0030308	Process	Negative regulation of cell growth	IDA	18725949
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IDA	18390475
GO:0036117	Component	Hyaluranon cable	IDA	16900089
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IDA	17324121
GO:0043202	Component	Lysosomal lumen	TAS
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IDA	19577615
GO:0045766	Process	Positive regulation of angiogenesis	IMP	20473947
GO:0045785	Process	Positive regulation of cell adhesion	IMP	20473947
GO:0046677	Process	Response to antibiotic	IDA	11944887
GO:0051216	Process	Cartilage development	IEP	11944887
GO:0052757	Function	Chondroitin hydrolase activity	IEA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071347	Process	Cellular response to interleukin-1	IDA	18390475
GO:0071356	Process	Cellular response to tumor necrosis factor	IEP	18390475
GO:0071467	Process	Cellular response to pH	IDA	19478093
GO:0071493	Process	Cellular response to UV-B	IDA	21699545
GO:1900106	Process	Positive regulation of hyaluranon cable assembly	IDA	16900089

MIM	HGNC	e!Ensembl
607071	5320	ENSG00000114378

Q12794

Protein name

Hyaluronidase-1 (Hyal-1) (EC 3.2.1.35) (Hyaluronoglucosaminidase-1) (Lung carcinoma protein 1) (LuCa-1)

Protein function

May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.

PDB

2PE4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01630	Glyco_hydro_56	25 → 355	Hyaluronidase	Domain

Tissue specificity

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 tissu

Sequence

MAAHLLPICALFLTLLDMAQGFRGPLLPNRPFTTVWNANTQWCLERHGVDVDVSVFDVVA
NPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASLIAHLARTFQDILAAIPAP
DFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHPDWPAPQVEAVAQDQFQGAAR
AWMAGTLQLGRALRPRGLWGFYGFPDCYNYDFLSPNYTGQCPSGIRAQNDQLGWLWGQSR
ALYPSIYMPAVLEGTGKSQMYVQHRVAEAFRVAVAAGDPNLPVLPYVQIFYDTTNHFLPL
DELEHSLGESAAQGAAGVVLWVSWENTRTKESCQAIKEYMDTTLGPFILNVTSGALLCSQ
ALCSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKCRC
YPGWQAPWCERKSMW

Sequence length

435

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan degradation Metabolic pathways Lysosome		CS/DS degradation Hyaluronan uptake and degradation MPS IX - Natowicz syndrome

361

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of hyaluronoglucosaminidase	Pathogenic; Likely pathogenic	rs782240278, rs2109307152, rs1553713128, rs1702201097, rs782636282, rs2109309063, rs1450097579, rs1702209367, rs1702197212, rs2109307739, rs1553713200, rs2109304251, rs781974681, rs1553713075, rs782271243 View all (20 more)	RCV001385919 RCV001384674 RCV001387834 RCV001383072 RCV001380737 RCV001842226 RCV001891605 RCV001950842 RCV001908753 RCV001942727 RCV001979958 RCV002000001 RCV001962902 RCV000003709 RCV002598604 RCV002634188 RCV002795419 RCV002870778 RCV002862454 RCV002858070 RCV002918818 RCV002957985 RCV003046583 RCV003500934 RCV003501872 RCV003501914 RCV003607644 RCV003607925 RCV003608264 RCV003608260 RCV003608431 RCV003879013 RCV000797408 RCV001223938 RCV001210913 RCV001237761

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
HYAL1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs781796869, rs1011078230, rs782655370, rs117179004, rs116482870, rs138951582, rs375213606, rs143176318, rs782355058	RCV003938884 RCV003973649 RCV003402908 RCV004755894 RCV003972465 RCV003953136 RCV003955889 RCV004756179 RCV003398977

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	35164755
Adenocarcinoma Mucinous	Stimulate	21695196
Breast Neoplasms	Associate	22139571, 27764788
Cap Myopathy	Associate	11278412
Carcinoma Basal Cell	Associate	26352698
Carcinoma Endometrioid	Associate	20875124
Carcinoma Ovarian Epithelial	Inhibit	19435493
Carcinoma Ovarian Epithelial	Stimulate	21695196
Colorectal Neoplasms	Associate	20849597
COVID 19	Associate	34185889
Endometrial Neoplasms	Associate	20875124
Eye Diseases	Associate	35164755
Familial Primary Pulmonary Hypertension	Inhibit	18768572
Hypoxia	Inhibit	34521918
Idiopathic Pulmonary Fibrosis	Inhibit	32258117
Idiopathic Pulmonary Fibrosis	Associate	33942374
Idiopathic Pulmonary Fibrosis	Stimulate	33942374
Intervertebral Disc Degeneration	Associate	33251629, 34307661
Mouth Neoplasms	Associate	26352698
Neoplasm Metastasis	Associate	20960509, 29753676
Neoplasms	Associate	11278412, 18718911, 19201751, 19345473, 19683287, 21315068, 25855794, 29753676
Neoplasms	Stimulate	20849597
Non Muscle Invasive Bladder Neoplasms	Associate	19345473
Ovarian Neoplasms	Associate	19435493, 35767191
Polypoidal Choroidal Vasculopathy	Associate	35164755
Prostatic Neoplasms	Associate	11278412, 17502371, 19683287, 29753676
Prostatitis	Associate	21315068, 29753676
Status Asthmaticus	Associate	18390475
Urinary Bladder Neoplasms	Associate	19345473, 20960509
Urinary Bladder Neoplasms	Stimulate	26138586
Uveal melanoma	Associate	33387485

HYAL1 (hyaluronidase 1)