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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HYAL1 Gene

protein-coding   GIFtS: 67
GCID: GC03M050339

Hyaluronoglucosaminidase 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hyaluronoglucosaminidase 11 2     luCa-12
Lung Carcinoma Protein 12 3     Plasma Hyaluronidase2
LUCA12 3     Tumor Suppressor LUCA-12
EC 3.2.1.353 8     Hyal-13
HYAL-12     Hyaluronoglucosaminidase-13
NAT62     LuCa-13
hyaluronidase-12     

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 Gene:
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)

GeneCards Summary for HYAL1 Gene: 
HYAL1 (hyaluronoglucosaminidase 1) is a protein-coding gene. Diseases associated with HYAL1 include mucolipidoses, and mucopolysaccharidosis type ix, and among its related super-pathways are Metabolic pathways and Metabolism of carbohydrates. GO annotations related to this gene include hyalurononglucosaminidase activity and transcription factor binding. An important paralog of this gene is SPAM1.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  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 plasmidHYAL1 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for HYAL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HYAL1 Protein Expression
    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 for HYAL1: 
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    Novus Biologicals HYAL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HYAL1
    Cloud-Clone Corp. Proteins for HYAL1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA17170110
    GO:0005737cytoplasm IDA--
    GO:0005764lysosome IDA16600643
    GO:0031410cytoplasmic vesicle IDA18390475
    GO:0036117hyaluranon cable IDA16900089

    HYAL1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for HYAL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     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 domains:
    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


    HYAL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001618NOT virus receptor activity IDA11296287
    GO:0004415NOT hyalurononglucosaminidase activity IDA12084718
    GO:0008134transcription factor binding IDA18718911
    GO:0050501hyaluronan synthase activity IDA--
         
    HYAL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HYAL1:
     Decreased cell number, increas  Decreased viability of wild-ty 

         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

    Animal Models:
         MGI mouse knock-out Hyal1tm1Stn for HYAL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HYAL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HYAL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HYAL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HYAL1 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HYAL1 About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    3Hyaluronan uptake and degradation
    Hyaluronan uptake and degradation0.71
    Hyaluronan metabolism0.71
    4A tetrasaccharide linker sequence is required for GAG synthesis
    Chondroitin sulfate/dermatan sulfate metabolism0.54
    5CS/DS degradation
    CS/DS degradation0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/20        Reactome Pathways for HYAL1 (see all 20)
        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 CentralTM 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
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GUSBENSP000003027284STRING: ENSP00000302728
    ARSBENSP000002649144STRING: ENSP00000264914
    IDUAENSP000002479334STRING: ENSP00000247933
    FAM107BENSP000001817964STRING: ENSP00000181796
    COL2A1ENSP000003698894STRING: ENSP00000369889
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000302response to reactive oxygen species IDA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006954inflammatory response IDA18390475
    GO:0009615response to virus IDA11296287
    GO:0010634positive regulation of epithelial cell migration IDA--

    HYAL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for HYAL1

    3 HMDB Compounds for HYAL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--
    N-Acetylgalactosamine 4-sulphateN-Acetyl-D-galactosamine 4-sulfate (see all 7)45233-43-0--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA 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):

    AW167702 AW452294 BC001676 BE563312 AF036035 CR613438 BM918332 AW409968 
    BX283184 AA579404 BC007437 BM796989 U09585 BU741074 CR614993 NM_003549 
    BE891313 AA857646 AI583049 CD673962 BG057830 BQ052249 BM791438 BI821378 

    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)      HYAL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HYAL1 Expression
    About this image


    HYAL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   
             CERVIX   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Articular Cartilage Cells Zeugopod Articular Cartilage
             Normal Human Articular chondrocytes (NHAC)   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Human Preadipocyte-visceral (HPA-v)   

    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

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    In Situ
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    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 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hyal11 , 5 hyaluronoglucosaminidase 11, 5 80.68(n)1
    73.67(a)1
      9 (58.17 cM)5
    155861  NM_008317.41  NP_032343.21 
     1075769275 
    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
    Uncharacterized protein
    49(a)
    1 ↔ 1
    2(149891038-149900639)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005352901 hyaluronidase-1-like 53.48(n)
    47.66(a)
      100535290  XM_003198842.1  XP_003198890.1 
    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, 4UniProtKB, 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

    10/280 SNPs in HYAL1 are shown (see all 280)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0236434
    Mucopolysaccharidosis 9 (MPS9)4--see VAR_0236432 E K mis40--------
    rs1048937431,2
    Cpathogenic150339586(-) TGGCCA/GAGGCA 22 K E mis10--------
    rs1880341241,2
    --50275372(+) CAAGCA/GATTCT 5 -- us2k10--------
    rs74331581,2
    C--50339109(+) ccgggC/Agcggt 6 -- int12Minor allele frequency- A:0.00NA 4
    rs1921658461,2
    --50339166(+) ATCACA/GAGGTC 6 -- int10--------
    rs1850572921,2
    --50339294(+) GGAGAA/GTGGCA 6 -- int10--------
    rs1898967611,2
    --50339307(+) AACCCA/GGGAGG 6 -- int10--------
    rs2003567071,2
    C--50339382(-) TTTTTG/TGAGAC 6 -- int10--------
    rs1812096311,2
    --50339408(+) ATGTCC/GCAAAG 6 -- int10--------
    rs8783281,2
    H--50339540(-) GCCGGT/CGCTGC 22 /A /V mis1 ese38Minor allele frequency- C:0.00NA EA MN NS 842

    HapMap Linkage Disequilibrium report for HYAL1 (50337320 - 50349812 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for HYAL1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1266548CNV Deletion17803354
    esv2665476CNV Deletion23128226
    esv2671943CNV Deletion23128226
    esv29569CNV Loss19812545
    dgv5132n71CNV Loss21882294
    dgv5133n71CNV Loss21882294
    nsv876770CNV Loss21882294
    nsv834692CNV Loss17160897
    nsv470561CNV Loss18288195
    nsv523560CNV Loss19592680


    Human Gene Mutation Database (HGMD): HYAL1
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607071   
    OMIM disorders: 601492  
    UniProtKB/Swiss-Prot: HYAL1_HUMAN, Q12794
  • Mucopolysaccharidosis 9 (MPS9) [MIM:601492]: A lysosomal storage disease characterized by high hyaluronan
    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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/28 diseases for HYAL1 (see all 28):    About MalaCards
    mucolipidoses    mucopolysaccharidosis type ix    noma    mucopolysaccharidosis
    gingival overgrowth    morquio syndrome b    type 1 diabetes mellitus    lysosomal storage disease
    gingivitis    laryngeal carcinoma    type 1 diabetes    short stature
    peritonitis    laryngitis    blindness    endometrial carcinoma
    osteoarthritis    diabetes mellitus    prostate cancer    atherosclerosis

    1 disease from the University of Copenhagen DISEASES database for HYAL1:
    Urinary bladder cancer

    HYAL1 for disorders           About GeneDecksing

    8 Novoseek inferred 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)

    Genetic Association Database (GAD): HYAL1
    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 89):
    (articles sorted by number of sources associating them with HYAL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification, cloning, and expression of human plasma hyaluronidase. (PubMed id 9223416)1, 2, 3, 9 Frost G.I.... Stern R. (1997)
    2. 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)
    3. Regulation of hyaluronidase activity by alternative mRNA splicing. (PubMed id 12084718)1, 2, 9 Lokeshwar V.B.... Iida N. (2002)
    4. 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)
    5. 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)
    6. Purification and microsequencing of hyaluronidase isozymes from human urine. (PubMed id 9409739)1, 3, 9 Csoka A.B....Csoka T.B. (1997)
    7. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
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      (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
    NameDescription
    PharmGKB entry for HYAL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HYAL1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HYAL1

    (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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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