Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HYAL1 Gene

protein-coding GIFtS: 64
GCID: GC03M050339

hyaluronoglucosaminidase 1

Explore 33 diseases affiliated with
HYAL1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hyaluronoglucosaminidase 1¹ ²		Hyaluronidase-1¹
LUCA1¹ ² ³		LuCa-1³
HYAL-1¹ ²		Plasma Hyaluronidase²
NAT6¹ ²		Tumor Suppressor LUCA-1²
Lung Carcinoma Protein 1² ³		Hyal-1³
EC 3.2.1.35³ ⁸		Hyaluronoglucosaminidase-1³
FUS2¹		LuCa-1³

External Ids:	HGNC: 5320¹	Entrez Gene: 3373²	Ensembl: ENSG00000114378⁷	OMIM: 607071⁵	UniProtKB: Q12794³

Export aliases for HYAL1 gene to outside databases

Previous GC identifers: GC03P049646 GC03P049807 GC03M050191 GC03M050296 GC03M050312

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HYAL1:

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)

UniProtKB/Swiss-Prot: HYAL1_HUMAN, Q12794

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

Gene Wiki entry for HYAL1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HYAL1 gene promoter:
ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HYAL1 promoter sequence

Search SABiosciences Chromatin IP Primers for HYAL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HYAL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3-p21.2 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.3-p21.2

HYAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HYAL1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M050339: view genomic region (about GC identifiers)

Start:	50,337,320 bp from pter	End:	50,349,812 bp from pter
Size:	12,493 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HYAL1_HUMAN, Q12794 (See protein sequence)

Recommended Name: Hyaluronidase-1 precursor

Size: 435 amino acids; 48368 Da

Subcellular location: Secreted. Lysosome

Sequence caution: Sequence=AAH25774.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for HYAL1:

2PE4 (3D)

Secondary accessions: Q6FH23 Q6PIZ6 Q7KYU2 Q7LE34 Q8NFK5 Q8NFK6 Q8NFK7 Q8NFK8 Q8NFK9 Q93013 Q9UKD5

Q9UNI8

Alternative splicing: 7 isoforms: Q12794-1 Q12794-2 Q12794-3 Q12794-4 Q12794-5 Q12794-6 Q12794-7 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HYAL1: NX_Q12794

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q12794

4/5 DME Specific Peptides for HYAL1 (Q12794) (see all 5)

GHGRCVR

KDIYRQRS

GLAVIDWE

QNDQLGWLW

HYAL1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_149349.2 NP_695013.1 NP_695014.1 NP_695015.1 NP_695017.1

ENSEMBL proteins:

ENSP00000378576 ENSP00000266031 ENSP00000346068 ENSP00000378575 ENSP00000393358

ENSP00000390149 ENSP00000394526 ENSP00000391666

Reactome Protein details: Q12794
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for HYAL1 (Hyaluronidase 1/HYAL1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): HYAL1 OriGene Protein Over-expression Lysate (see all 6): HYAL1 OriGene Custom Protein Services for HYAL1
	GenScript Custom Purified and Recombinant Proteins Services for HYAL1
	Novus Biologicals HYAL1 Proteins Novus Biologicals HYAL1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for HYAL1
	Uscn Proteins for HYAL1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IDA	17170110
GO:0005737	cytoplasm	IDA	--
GO:0005764	lysosome	IDA	16600643
GO:0031410	cytoplasmic vesicle	IDA	18390475
GO:0036117	hyaluranon cable	IDA	16900089

HYAL1 for ontologies About GeneDecksing

HYAL1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for HYAL1
	GenScript Custom Superior Antibodies Services for HYAL1
	Novus Biologicals HYAL1 Antibodies
	Search for Antibodies for HYAL1 at Abcam
	Uscn Antibodies for HYAL1
	Search ThermoFisher Antibodies for HYAL1

Assay Products for HYAL1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for HYAL1 (Hyaluronidase 1/HYAL1)
	GenScript Custom Assay Services for HYAL1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HYAL1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HYAL1 for domains About GeneDecksing

4 InterPro domains/families:

IPR013785 Aldolase_TIM

IPR018155 Hyaluronidase

IPR000742 EG-like_dom

IPR017853 Glycoside_hydrolase_SF

Graphical View of Domain Structure for InterPro Entry Q12794

ProtoNet protein and cluster: Q12794

2 Blocks protein families:

IPB001968 Glycosyl hydrolase family 56 signature

IPB006210 Type I EGF

UniProtKB/Swiss-Prot: HYAL1_HUMAN, Q12794

Similarity: Belongs to the glycosyl hydrolase 56 family

Similarity: Contains 1 EGF-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HYAL1_HUMAN, Q12794

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

Catalytic activity: Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues

in hyaluronate

Biophysicochemical properties: pH dependence: Optimum pH is about 3.8;

Genatlas biochemistry entry for HYAL1:

hyaluroglucosaminidase 1,plasma,expressed in embryonic kidney and somatic tissues,paralog to SPAM1,involved in

glycosaminoglycan catabolism,also involved in cell migration during embryonic development,clustered with HYAL2 and

HYAL3

Enzyme Number (IUBMB): EC 3.2.1.35¹ ²

miRNA Products:		OriGene 3'-UTR Clone (see all 5): HYAL1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HYAL1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate HYAL1:
		hsa-miR-516b
		SwitchGear 3'UTR luciferase reporter plasmid: HYAL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HYAL1 (see all 7) OriGene shRNA RFP: HYAL1 OriGene siRNA: HYAL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HYAL1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HYAL1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HYAL1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HYAL1 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): HYAL1 (NM_007312)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HYAL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HYAL1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HYAL1
		Search LifeMap BioReagents cell lines for HYAL1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HYAL1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001618	NOT viral receptor activity	IDA	11296287
GO:0004415	NOT hyalurononglucosaminidase activity	IDA	12084718
GO:0008134	transcription factor binding	IDA	18718911
GO:0050501	hyaluronan synthase activity	IDA	--

HYAL1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for HYAL1:

Decreased cell number, increas

Decreased viability of wild-ty

Animal Models:
Mouse knock-out Hyal1^tm1Stn for HYAL1
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hyal1):

immune system

liver/biliary system

respiratory system

skeleton

HYAL1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/14 pathways (see all 14)
MPS VI - Maroteaux-Lamy syndrome	1.00	MPS VII - Sly syndrome	1.00
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS I - Hurler syndrome	1.00	MPS IIID - Sanfilippo syndrome D	1.00
Mucopolysaccharidoses	1.00	MPS IX - Natowicz syndrome	1.00

Hyaluronan uptake and degradation

Hyaluronan uptake and degradation

1.00

Hyaluronan metabolism

0.71

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Hyaluronidase 1 (HYAL1) hydrolyses HA from 20kDa to 800Da fragments

Hyaluronidase 1 (HYAL1) hydrolyses HA from 20kDa to 800Da fragments

1.00

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/21 Reactome Pathways for HYAL1 (see all 21)

	Hyaluronan metabolism
	Chondroitin sulfate/dermatan sulfate metabolism
	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease

3 Kegg Pathways (Kegg details for HYAL1):

	Glycosaminoglycan degradation
	Metabolic pathways
	Lysosome

HYAL1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HYAL1

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for HYAL1 (ENSP00000266031⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GUSB	ENSP00000302728⁴	STRING: ENSP00000302728
ARSB	ENSP00000264914⁴	STRING: ENSP00000264914
IDUA	ENSP00000247933⁴	STRING: ENSP00000247933
FAM107B	ENSP00000181796⁴	STRING: ENSP00000181796
COL2A1	ENSP00000369889⁴	STRING: ENSP00000369889

About this table

Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000302	response to reactive oxygen species	IDA	--
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006954	inflammatory response	IDA	18390475
GO:0008219	cell death	--	--
GO:0008285	negative regulation of cell proliferation	--	--

HYAL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HYAL1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HYAL1

3 HMDB Compounds for HYAL1 About this table

Compound	Synonyms	CAS #	PubMed Ids
N-Acetylgalactosamine	2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)	1811-31-0	--
N-Acetylgalactosamine 4-sulphate	N-Acetyl-D-galactosamine 4-sulfate (see all 7)	45233-43-0	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 Novoseek chemical compound relationships for HYAL1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyaluronic acid	60.6	8	17170110 (2), 18718911 (1), 19282346 (1)
chondroitin sulfate	46	2	19889881 (1)
bupivacaine	27.5	1	10746534 (1)

Search CenterWatch for drugs/clinical trials and news about HYAL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HYAL1 gene (7 alternative transcripts):

NM_033159.3 NM_153281.1 NM_153282.2 NM_153283.2 NM_153285.2 NM_153284.1 NM_153286.1

Unigene Cluster for HYAL1:

Hyaluronoglucosaminidase 1

Hs.75619 [show with all ESTs]

Unigene Representative Sequence: NR_047690

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000395144(uc003czm.3 uc003czp.3 uc003czo.3 uc003czq.3 uc003czn.3 uc003czt.3)

ENST00000266031(uc003czr.3) ENST00000320295(uc003czs.3) ENST00000395143

ENST00000457214 ENST00000447605 ENST00000418723 ENST00000452672

miRNA Products:		OriGene 3'-UTR Clone (see all 5): HYAL1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HYAL1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate HYAL1:
		hsa-miR-516b
		SwitchGear 3'UTR luciferase reporter plasmid: HYAL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HYAL1 (see all 7) OriGene shRNA RFP: HYAL1 OriGene siRNA: HYAL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HYAL1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HYAL1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HYAL1 (see all 6) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): HYAL1 (NM_007312)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HYAL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HYAL1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HYAL1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HYAL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HYAL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HYAL1

Additional cDNA sequence:

AF118821.1 AF173154.1 AF502904.1 AF502905.1 AF502906.1 AF502907.1 AF502908.1 AK097287.1

AK290816.1 BC025774.1 BC035695.1 CR541933.1 NR_047690.1 U03056.2 U96078.1

10 DOTS entries:

DT.100024934 DT.454011 DT.120907600 DT.95195755 DT.100024937 DT.100024933 DT.100661363 DT.99961112

DT.120907594 DT.120907597

24/510 AceView cDNA sequences (see all 510):

BP364738 BM918332 AA579404 BQ641373 AI584127 AA991634 BX283184 AW409968

BQ222461 AF040710 AF502912 BE904712 AF040706 AA594570 CK724916 BU951922

BE891313 BM827282 BE264254 CR613438 BC007265 BE328386 BM989194 BQ424445

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HYAL1 (see all 8) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6a	·	6b
SP1:			-		-
SP2:					-		-
SP3:					-		-		-
SP4:					-
SP5:					-								-

ECgene alternative splicing isoforms for HYAL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HYAL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

HYAL1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Autopod Articular Cartilage

Articular Cartilage Cells

Selective marker (cell-identifying gene)

Cartilage

Stylopod Articular Cartilage

Articular Cartilage Cells

Cartilage

Zeugopod Articular Cartilage

Articular Cartilage Cells

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HYAL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HYAL1

SOURCE GeneReport for Unigene cluster: Hs.75619

UniProtKB/Swiss-Prot: HYAL1_HUMAN, Q12794

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 tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5

and isoform 6 are expressed in normal bladder and bladder tumor tissues

SABiosciences Custom PCR Arrays for HYAL1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HYAL1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HYAL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HYAL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HYAL1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HYAL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for HYAL1 gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HYAL1¹	hyaluronoglucosaminidase 1	61.4(n) 52.59(a)		426739 XM_424356.3 XP_424356.1
lizard (Anolis carolinensis)	Reptilia	HYAL1⁶	--	49(a)	1 ↔ 1	2(149891038-149895874)
zebrafish (Danio rerio)	Actinopterygii	LOC100535290¹	hyaluronidase-1-like	53.48(n) 47.66(a)		100535290 XM_003198842.1 XP_003198890.1
honey bee (Apis mellifera)	Insecta	--	--	27(a)	1 → many	Group14.3(803059-805153)
worm (Caenorhabditis elegans)	Secernentea	T22C8.2³ chhy-1¹	hyaluronidase³ Protein CHHY-1¹	31(a)³ 40.71(n)¹ 33.05(a)¹		II(8614552-8617147)³ 174383¹ NM_063429.2¹ NP_495830.1¹

ENSEMBL Gene Tree for HYAL1 (if available)
TreeFam Gene Tree for HYAL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HYAL1 gene

SPAM1² HYAL3² HYAL2² HYAL4²

5 SIMAP similar genes for HYAL1 using alignment to 3 protein entries: HYAL1_HUMAN (see all proteins):

HYAL2 LOC402588 HYAL4 SPAM1 HYAL3

HYAL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893743^1,2	C	pathogenic	50339586(-)	`TGGCCA/GAGGCA`	22	K E	mis¹		0	--	--	--	--
rs116618246^1,2	F,	--	50337027(+)	`CCAGGC/GCCTGC`	14	--	ds500¹ int¹ us2k¹		1		WA	118
rs34136796^1,2	C,F,H,	--	50337032(+)	`CCCTGC/ACCCAG`	14	--	ds500¹ us2k¹ int¹		16		NS EA NA	1702
rs142625050^1,2		--	50337078(+)	`CTCCAC/GCTGGC`	14	--	ds500¹ us2k¹ int¹		0	--	--	--	--
rs191044751^1,2		--	50337303(+)	`TTTTAA/GGCGCT`	14	--	ds500¹ int¹ us2k¹		0	--	--	--	--
rs1283^1,2	C,F,O,H,	--	50337422(-)	`GGGTAC/TAGCCC`	14	--	ut3¹ us2k¹ nc-transcript-variantese³		17		MN NA NS EA	1710
rs150976767^1,2		--	50337455(+)	`TGAATC/TTCAAC`	14	--	ut3¹ nc-transcript-variantus2k¹		0	--	--	--	--
rs182987423^1,2		--	50337480(+)	`GCTGTA/GCAACC`	14	--	ut3¹ us2k¹ nc-transcript-variant		0	--	--	--	--
rs141677727^1,2		--	50337529(+)	`TTCCTC/TATAGC`	14	--	ut3¹ nc-transcript-variantus2k¹		0	--	--	--	--
rs187533933^1,2		--	50337681(+)	`TTGCCA/GAGTAG`	14	--	ut3¹ us2k¹ nc-transcript-variant		0	--	--	--	--

HapMap Linkage Disequilibrium report for HYAL1 (50337320 - 50349812 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for HYAL1
5 CNVs: 30176 4335 3429 4336 63465
Human Gene Mutation Database (HGMD): HYAL1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HYAL1

DNA2.0 Custom Variant and Variant Library Synthesis for HYAL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HYAL1 for disorders           About GeneDecksing

OMIM gene information: 607071
OMIM disorders: 601492
UniProtKB/Swiss-Prot: HYAL1_HUMAN, Q12794

Defects in HYAL1 are the cause of mucopolysaccharidosis type 9 (MPS9) [MIM:601492]; also called hyaluronidase

deficiency. MPS9 is a lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum. The

clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of

neurological or visceral involvement

20/33 diseases for HYAL1 (see all 33): About MalaCards

mucopolysaccharidosis type ix mucopolysaccharidosis lung carcinoma lysosomal storage disease

type 1 diabetes mellitus carcinoma mucolipidoses gingival overgrowth

short stature urinary bladder cancer diabetes mellitus epithelial ovarian cancer

squamous cell carcinoma gingivitis laryngitis laryngeal carcinoma

ovarian cancer endometrial carcinoma prostate cancer breast cancer

2 diseases from the University of Copenhagen DISEASES database for HYAL1:

Urinary bladder cancer Mucopolysaccharidosis

8 Novoseek disease relationships for HYAL1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mucopolysaccharidosis	64.3	3	18344557 (1), 10339581 (1)
bladder cancer	47.4	7	20006858 (4), 16314195 (2)
tumors	33.6	36	16140946 (5), 10702795 (2), 11980673 (2), 17315194 (1) (see all 12)
bladder tumors	33	1	12084718 (1)
prostate cancer	32.8	6	16140946 (1), 18718911 (1), 12084718 (1), 16816377 (1) (see all 5)
metastasis	11.7	12	19218337 (2)
cancer	11.2	7	18281563 (2), 16140946 (1), 18718911 (1), 15936804 (1) (see all 6)
breast cancer	0	3	17315194 (1), 11980673 (1)

Human Genome Epidemiology (HuGE) Navigator: HYAL1 (2 documents)

Export disorders for HYAL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HYAL1 gene, integrated from 9 sources (see all 85):
(articles sorted by number of sources associating them with HYAL1)

Utopia: connect your pdf to the dynamic
world of online information

Purification, cloning, and expression of human plasma hyaluronidase. (PubMed id 9223416)^{1, 2, 3, 9} Frost G.I.... Stern R. (1997)
HYAL1(LUCA-1), a candidate tumor suppressor gene on chromosome 3p21.3, is inactivated in head and neck squamous cell carcinomas by aberrant splicing of pre-mRNA. (PubMed id 10702795)^{1, 2, 9} Frost G.I.... Stern R. (2000)
Regulation of hyaluronidase activity by alternative mRNA splicing. (PubMed id 12084718)^{1, 2, 9} Lokeshwar V.B.... Iida N. (2002)
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. (PubMed id 10339581)^{1, 2, 9} Triggs-Raine B.... Natowicz M.R. (1999)
Structure of human hyaluronidase-1, a hyaluronan hydrolyzing enzyme involved in tumor growth and angiogenesis. (PubMed id 17503783)^{1, 2, 9} Chao K.L.... Herzberg O. (2007)
Purification and microsequencing of hyaluronidase isozymes from human urine. (PubMed id 9409739)^{1, 3, 9} Csoka A.B....Csoka T.B. (1997)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)^{1, 2} Muzny D.M....Gibbs R.A. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Construction of a 600-kilobase cosmid clone contig and generation of a transcriptional map surrounding the lung cancer tumor suppressor gene (TSG) locus on human chromosome 3p21.3: progress toward the isolation of a lung cancer TSG. (PubMed id 8603390)^{1, 2} Wei M.H.... Lerman M.I. (1996)
Epigenetic regulation of HYAL-1 hyaluronidase expression. identification of HYAL-1 promoter. (PubMed id 18718911)^{1, 9} Lokeshwar V.B....Lokeshwar B.L. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3373	HGNC: 5320	AceView: HYAL3	Ensembl:ENSG00000114378	euGenes: HUgn3373
ECgene: HYAL1	Kegg: 3373	H-InvDB: HYAL1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HYAL1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for HYAL1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HYAL1

Intellectual Property for HYAL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for HYAL1 gene:
Search GeneIP for patents involving HYAL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	ELISAs for HYAL1 (Hyaluronidase 1/HYAL1)		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Recombinant/Natural Proteins for HYAL1 (Hyaluronidase 1/HYAL1)

	Browse OriGene Antibodies		OriGene shRNA RFP for HYAL1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HYAL1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HYAL1
	OriGene Protein Over-expression Lysate for HYAL1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for HYAL1		OriGene 3'-UTR Clone for HYAL1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HYAL1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HYAL1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for HYAL1		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for HYAL1		OriGene Custom Protein Services for HYAL1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HYAL1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HYAL1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HYAL1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HYAL1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HYAL1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HYAL1

	GenScript Custom Purified and Recombinant Proteins Services for HYAL1		GenScript cDNA clones with any tag delivered in your preferred vector for HYAL1
	GenScript Custom Assay Services for HYAL1		GenScript Custom Superior Antibodies Services for HYAL1
	GenScript Custom overexpressing Cell Line Services for HYAL1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in HYAL1 promoter
	Search Chromatin IP Primers for HYAL1
	RT² qPCR Primer Assay in human, mouse, rat HYAL1
	Search GNC Networks for HYAL1
	SABiosciences Custom PCR Arrays for HYAL1

Search Tocris compounds for HYAL1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	HYAL1 antibodies
	HYAL1 proteins
	HYAL1 lysates

	Search for Antibodies for HYAL1 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for HYAL1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Recombinant Protein for HYAL1

HYAL1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for HYAL1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HYAL1

	SwitchGear 3'UTR luciferase reporter plasmids for HYAL1
	SwitchGear Promoter luciferase reporter plasmids for HYAL1

Search ThermoFisher Antibodies for HYAL1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HYAL1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes HYAL1 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

HYAL1 Gene

hyaluronoglucosaminidase 1

Aliases
for HYAL1 gene

Summaries
for HYAL1 gene

Genomic Views
for HYAL1 gene

Proteins
for HYAL1 gene

Protein Domains /
Families
for HYAL1 gene

Function
for HYAL1 gene

Pathways & Interactions
for HYAL1 gene

Drugs & Compounds
for HYAL1 gene

Transcripts
for HYAL1 gene

Expression
for HYAL1 gene

Orthologs
for HYAL1 gene

Paralogs
for HYAL1 gene

Genomic Variants
for HYAL1 gene

Disorders / Diseases
for HYAL1 gene

Publications
for HYAL1 gene

External Searches for HYAL1 gene

Genome Databases showing HYAL1 gene

Other Databases showing HYAL1 gene

Specialized Databases showing HYAL1 gene

Intellectual Property
for HYAL1 gene

Products
for HYAL1 gene

View Random Gene

Advanced Search

Export list of displayed genes

HYAL1 Gene

hyaluronoglucosaminidase 1

Aliasesfor HYAL1 gene

Summariesfor HYAL1 gene

Genomic Viewsfor HYAL1 gene

Proteinsfor HYAL1 gene

Protein Domains /Familiesfor HYAL1 gene

Functionfor HYAL1 gene

Pathways & Interactionsfor HYAL1 gene

Drugs & Compoundsfor HYAL1 gene

Transcriptsfor HYAL1 gene

Expression for HYAL1 gene

Orthologsfor HYAL1 gene

Paralogsfor HYAL1 gene

Genomic Variantsfor HYAL1 gene

Disorders / Diseasesfor HYAL1 gene

Publicationsfor HYAL1 gene

External Searches for HYAL1 gene

Genome Databases showing HYAL1 gene

Other Databases showing HYAL1 gene

Specialized Databases showing HYAL1 gene

Intellectual Propertyfor HYAL1 gene

Productsfor HYAL1 gene

View Random Gene

Aliases
for HYAL1 gene

Summaries
for HYAL1 gene

Genomic Views
for HYAL1 gene

Proteins
for HYAL1 gene

Protein Domains /
Families
for HYAL1 gene

Function
for HYAL1 gene

Pathways & Interactions
for HYAL1 gene

Drugs & Compounds
for HYAL1 gene

Transcripts
for HYAL1 gene

Expression
for HYAL1 gene

Orthologs
for HYAL1 gene

Paralogs
for HYAL1 gene

Genomic Variants
for HYAL1 gene

Disorders / Diseases
for HYAL1 gene

Publications
for HYAL1 gene

Intellectual Property
for HYAL1 gene

Products
for HYAL1 gene