HYAL1 (hyaluronidase 1)

Gene

• Entrez ID: 3373
• Gene name: Hyaluronidase 1
• Gene symbol: HYAL1
• Synonyms: HYAL-1, LUCA1, MPS9, NAT6
• 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

SNPs

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

miRNA

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

Transcription factors

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

Gene ontology (GO)

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	9223416, 11296287, 11944887, 17170110, 18390475, 19478093, 20473947, 20572808, 21695196, 21699545, 21829529
GO:0005615	Component	Extracellular space	IDA	9223416, 17170110, 21695196
GO:0005737	Component	Cytoplasm	IDA	21829529
GO:0005764	Component	Lysosome	IDA	16600643, 20572808
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006954	Process	Inflammatory response	IDA	18390475
GO:0008134	Function	Transcription factor binding	IDA	18718911
GO:0009615	Process	Response to virus	IDA	11296287
GO:0010634	Process	Positive regulation of epithelial cell migration	IDA	21829529
GO:0030207	Process	Chondroitin sulfate catabolic process	TAS
GO:0030212	Process	Hyaluronan metabolic process	IDA	19478093
GO:0030213	Process	Hyaluronan biosynthetic process	IDA	21829529
GO:0030214	Process	Hyaluronan catabolic process	IBA	21873635
GO:0030214	Process	Hyaluronan catabolic process	IDA	11296287, 17170110, 20473947, 21695196, 21699545, 21829529
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	21873635
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	IDA	21829529
GO:0045766	Process	Positive regulation of angiogenesis	IMP	20473947
GO:0045785	Process	Positive regulation of cell adhesion	IMP	20473947
GO:0045927	Process	Positive regulation of growth	IDA	21829529
GO:0046677	Process	Response to antibiotic	IDA	11944887
GO:0046718	Process	Viral entry into host cell	IEA
GO:0050501	Function	Hyaluronan synthase activity	IDA	21829529
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	21829529
GO:0051216	Process	Cartilage development	IEP	11944887
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:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IDA	21829529
GO:1900106	Process	Positive regulation of hyaluranon cable assembly	IDA	16900089

Other IDs

• MIM: 607071
• HGNC: 5320
• e!Ensembl: ENSG00000114378

Protein

• UniProt ID: 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

• Sequence:

  MAAHLLPICALFLTLLDMAQGFRGPLLPNRPFTTVWNANTQWCLERHGVDVDVSVFDVVA
  NPGQTFRGPDMTIFYSSQLGTYPYYTPTGEPVFGGLPQNASLIAHLARTFQDILAAIPAP
  DFSGLAVIDWEAWRPRWAFNWDTKDIYRQRSRALVQAQHPDWPAPQVEAVAQDQFQGAAR
  AWMAGTLQLGRALRPRGLWGFYGFPDCYNYDFLSPNYTGQCPSGIRAQNDQLGWLWGQSR
  ALYPSIYMPAVLEGTGKSQMYVQHRVAEAFRVAVAAGDPNLPVLPYVQIFYDTTNHFLPL
  DELEHSLGESAAQGAAGVVLWVSWENTRTKESCQAIKEYMDTTLGPFILNVTSGALLCSQ
  ALCSGHGRCVRRTSHPKALLLLNPASFSIQLTPGGGPLSLRGALSLEDQAQMAVEFKCRC
  YPGWQAPWCERKSMW

• Sequence length: 435

Pathways

KEGG:

Glycosaminoglycan degradation
Metabolic pathways
Lysosome

Reactome:

CS/DS degradation
Hyaluronan uptake and degradation
MPS IX - Natowicz syndrome

Associated diseases

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Hyaluronidase deficiency	Hyaluronidase Deficiency		10339581, 27604308, 26322170, 8793927
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028
Submucosal cleft palate	Submucous cleft of hard palate