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Aliases for HYAL1 Gene

Aliases for HYAL1 Gene

  • Hyaluronoglucosaminidase 1 2 3 5
  • Hyaluronoglucosaminidase-1 3 4
  • Lung Carcinoma Protein 1 3 4
  • EC 3.2.1.35 4 61
  • HYAL-1 3 4
  • LuCa-1 3 4
  • LUCA1 3 4
  • Tumor Suppressor LUCA-1 3
  • Plasma Hyaluronidase 3
  • Hyaluronidase-1 3
  • MPS9 3
  • NAT6 3

External Ids for HYAL1 Gene

Previous GeneCards Identifiers for HYAL1 Gene

  • GC03P049646
  • GC03P049807
  • GC03M050191
  • GC03M050296
  • GC03M050312
  • GC03M050339

Summaries for HYAL1 Gene

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 Mucopolysaccharidosis Type Ix and Mucopolysaccharidosis. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and Glycosaminoglycan metabolism. GO annotations related to this gene include transcription factor binding and hyalurononglucosaminidase activity. An important paralog of this gene is HYAL2.

UniProtKB/Swiss-Prot for HYAL1 Gene

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

Gene Wiki entry for HYAL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HYAL1 Gene

Genomics for HYAL1 Gene

Regulatory Elements for HYAL1 Gene

Enhancers for HYAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HYAL1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HYAL1 gene promoter:

Genomic Location for HYAL1 Gene

Chromosome:
3
Start:
50,299,889 bp from pter
End:
50,312,419 bp from pter
Size:
12,531 bases
Orientation:
Minus strand

Genomic View for HYAL1 Gene

Genes around HYAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HYAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HYAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYAL1 Gene

Proteins for HYAL1 Gene

  • Protein details for HYAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12794-HYAL1_HUMAN
    Recommended name:
    Hyaluronidase-1
    Protein Accession:
    Q12794
    Secondary Accessions:
    • Q6FH23
    • Q6PIZ6
    • Q7KYU2
    • Q7LE34
    • Q8NFK5
    • Q8NFK6
    • Q8NFK7
    • Q8NFK8
    • Q8NFK9
    • Q93013
    • Q9UKD5
    • Q9UNI8

    Protein attributes for HYAL1 Gene

    Size:
    435 amino acids
    Molecular mass:
    48368 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH25774.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HYAL1 Gene

    Alternative splice isoforms for HYAL1 Gene

neXtProt entry for HYAL1 Gene

Selected DME Specific Peptides for HYAL1 Gene

Post-translational modifications for HYAL1 Gene

  • Glycosylation at Asn 99, Asn 216, and Asn 350
  • Modification sites at PhosphoSitePlus

Domains & Families for HYAL1 Gene

Suggested Antigen Peptide Sequences for HYAL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12794

UniProtKB/Swiss-Prot:

HYAL1_HUMAN :
  • Contains 1 EGF-like domain.
  • Belongs to the glycosyl hydrolase 56 family.
Domain:
  • Contains 1 EGF-like domain.
Family:
  • Belongs to the glycosyl hydrolase 56 family.
genes like me logo Genes that share domains with HYAL1: view

No data available for Gene Families for HYAL1 Gene

Function for HYAL1 Gene

Molecular function for HYAL1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is about 3.8.;
UniProtKB/Swiss-Prot CatalyticActivity:
Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.
UniProtKB/Swiss-Prot Function:
May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.

Enzyme Numbers (IUBMB) for HYAL1 Gene

Gene Ontology (GO) - Molecular Function for HYAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 NOT virus receptor activity IDA 11296287
GO:0004415 hyalurononglucosaminidase activity TAS --
GO:0008134 transcription factor binding IDA 18718911
GO:0050501 hyaluronan synthase activity IDA 21829529
genes like me logo Genes that share ontologies with HYAL1: view
genes like me logo Genes that share phenotypes with HYAL1: view

Human Phenotype Ontology for HYAL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HYAL1 Gene

MGI Knock Outs for HYAL1:

Animal Model Products

CRISPR Products

miRNA for HYAL1 Gene

miRTarBase miRNAs that target HYAL1

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for HYAL1 Gene

Localization for HYAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYAL1 Gene

Secreted. Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HYAL1 Gene COMPARTMENTS Subcellular localization image for HYAL1 gene
Compartment Confidence
extracellular 3
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for HYAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 9223416
GO:0005737 cytoplasm IDA 21829529
GO:0005764 lysosome IDA 16600643
GO:0031410 cytoplasmic vesicle IDA 18390475
GO:0036117 hyaluranon cable IDA 16900089
genes like me logo Genes that share ontologies with HYAL1: view

Pathways & Interactions for HYAL1 Gene

genes like me logo Genes that share pathways with HYAL1: view

Interacting Proteins for HYAL1 Gene

Selected Interacting proteins: Q12794-HYAL1_HUMAN for HYAL1 Gene via IID

Gene Ontology (GO) - Biological Process for HYAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IDA 20554532
GO:0005975 carbohydrate metabolic process IEA --
GO:0006954 inflammatory response IDA 18390475
GO:0009615 response to virus IDA 11296287
GO:0010634 positive regulation of epithelial cell migration IDA 21829529
genes like me logo Genes that share ontologies with HYAL1: view

No data available for SIGNOR curated interactions for HYAL1 Gene

Drugs & Compounds for HYAL1 Gene

(4) Drugs for HYAL1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(2) Additional Compounds for HYAL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 2-Acetamido-2-deoxy-a-D-allopyranose
  • 2-Acetamido-2-deoxy-a-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-D-allopyranose
  • 2-Acetamido-2-deoxy-alpha-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-delta-allopyranose
1811-31-0
N-Acetylgalactosamine 4-sulphate
  • 2-(Acetylamino)-2-deoxy-D-Galactose 4-(hydrogen sulfate)
  • 2-(Acetylamino)-2-deoxy-D-Galactose 4-(hydrogen sulphate)
  • GalNAc4S
  • N-Acetyl-D-galactosamine 4-sulfate
  • N-Acetyl-D-galactosamine 4-sulphate
45233-43-0
genes like me logo Genes that share compounds with HYAL1: view

Transcripts for HYAL1 Gene

Unigene Clusters for HYAL1 Gene

Hyaluronoglucosaminidase 1:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HYAL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b
SP1: - -
SP2: - -
SP3: - - -
SP4: -
SP5: - -
SP6: - - - -
SP7:
SP8:

Relevant External Links for HYAL1 Gene

GeneLoc Exon Structure for
HYAL1
ECgene alternative splicing isoforms for
HYAL1

Expression for HYAL1 Gene

mRNA expression in normal human tissues for HYAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HYAL1 Gene

This gene is overexpressed in Liver (x12.9), Spleen (x6.8), Heart - Left Ventricle (x4.8), and Kidney - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for HYAL1 Gene

This gene is overexpressed in Urine (62.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HYAL1 Gene



Protein tissue co-expression partners for HYAL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HYAL1 Gene:

HYAL1

SOURCE GeneReport for Unigene cluster for HYAL1 Gene:

Hs.75619

mRNA Expression by UniProt/SwissProt for HYAL1 Gene:

Q12794-HYAL1_HUMAN
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.
genes like me logo Genes that share expression patterns with HYAL1: view

Primer Products

Orthologs for HYAL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HYAL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia HYAL1 34
  • 86.71 (n)
  • 82.03 (a)
HYAL1 35
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hyal1 34
  • 80.68 (n)
  • 73.67 (a)
Hyal1 16
Hyal1 35
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HYAL1 34
  • 99.69 (n)
  • 99.31 (a)
HYAL1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hyal1 34
  • 80.22 (n)
  • 74.6 (a)
cow
(Bos Taurus)
Mammalia -- 35
  • 67 (a)
OneToMany
HYAL1 35
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HYAL1 35
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HYAL1 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves HYAL1 34
  • 61.56 (n)
  • 52.59 (a)
HYAL1 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HYAL1 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hyal1 34
  • 55.94 (n)
  • 48.02 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100535290 34
  • 53.48 (n)
  • 47.66 (a)
CU694224.2 35
  • 46 (a)
OneToMany
HYAL1 (1 of 2) 35
  • 43 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11072 34
worm
(Caenorhabditis elegans)
Secernentea T22C8.2 36
  • 31 (a)
chhy-1 34
  • 41.19 (n)
  • 34.01 (a)
chhy-1 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
Species where no ortholog for HYAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HYAL1 Gene

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

Paralogs for HYAL1 Gene

Paralogs for HYAL1 Gene

(5) SIMAP similar genes for HYAL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HYAL1: view

Variants for HYAL1 Gene

Sequence variations from dbSNP and Humsavar for HYAL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs104893743 Mucopolysaccharidosis 9 (MPS9) 50,302,155(-) TGGCC(A/G)AGGCA nc-transcript-variant, reference, missense
rs878328 -- 50,302,109(-) GCCGG(C/T)GCTGC nc-transcript-variant, reference, missense
rs11717006 -- 50,309,459(+) actcc(A/C)ccaaa intron-variant
rs4688680 -- 50,309,818(-) ggcct(C/G)tgtgc intron-variant, utr-variant-5-prime
rs4688734 -- 50,310,067(-) aacat(A/C/G/T)atttt intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HYAL1 Gene

Variant ID Type Subtype PubMed ID
dgv8316n54 CNV loss 21841781
dgv8317n54 CNV loss 21841781
esv1266548 CNV deletion 17803354
esv2665476 CNV deletion 23128226
esv2671943 CNV deletion 23128226
esv2759148 CNV loss 17122850
esv29569 CNV loss 19812545
esv3561869 CNV deletion 23714750
esv3596141 CNV loss 21293372
nsv3813 CNV deletion 18451855
nsv460531 CNV loss 19166990
nsv470561 CNV loss 18288195
nsv523560 CNV loss 19592680
nsv523662 CNV loss 19592680
nsv590255 CNV loss 21841781
nsv834692 CNV loss 17160897
nsv834693 CNV loss 17160897
nsv954855 CNV deletion 24416366

Variation tolerance for HYAL1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HYAL1 Gene

Human Gene Mutation Database (HGMD)
HYAL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HYAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HYAL1 Gene

Disorders for HYAL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HYAL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis type ix
  • mucopolysaccharidosis, type ix
mucopolysaccharidosis
  • mps
mucolipidoses
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search HYAL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HYAL1_HUMAN
  • 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. {ECO:0000269 PubMed:10339581}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HYAL1

Genetic Association Database (GAD)
HYAL1
Human Genome Epidemiology (HuGE) Navigator
HYAL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HYAL1
genes like me logo Genes that share disorders with HYAL1: view

No data available for Genatlas for HYAL1 Gene

Publications for HYAL1 Gene

  1. Purification, cloning, and expression of human plasma hyaluronidase. (PMID: 9223416) Frost G.I. … Stern R. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 22 65
  2. Structure of human hyaluronidase-1, a hyaluronan hydrolyzing enzyme involved in tumor growth and angiogenesis. (PMID: 17503783) Chao K.L. … Herzberg O. (Biochemistry 2007) 3 4 22 65
  3. Regulation of hyaluronidase activity by alternative mRNA splicing. (PMID: 12084718) Lokeshwar V.B. … Iida N. (J. Biol. Chem. 2002) 3 4 22 65
  4. 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. (PMID: 10702795) Frost G.I. … Stern R. (Oncogene 2000) 3 4 22 65
  5. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. (PMID: 10339581) Triggs-Raine B. … Natowicz M.R. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 22 65

Products for HYAL1 Gene

Sources for HYAL1 Gene

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