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

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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

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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

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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

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (31 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HYAL1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE 9	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, TYPE IX	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HYAL1 (hyaluronidase 1)