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Aliases for HYAL3 Gene

Aliases for HYAL3 Gene

  • Hyaluronoglucosaminidase 3 2 3 5
  • Lung Carcinoma Protein 3 3 4
  • EC 3.2.1.35 4 61
  • HYAL-3 3 4
  • LUCA-3 3 4
  • LUCA3 3 4
  • Hyaluronoglucosaminidase-3 4
  • Hyaluronidase-3 3

External Ids for HYAL3 Gene

Previous GeneCards Identifiers for HYAL3 Gene

  • GC03P049651
  • GC03P049819
  • GC03M050179
  • GC03M050284
  • GC03M050301
  • GC03M050305
  • GC03M050331

Summaries for HYAL3 Gene

Entrez Gene Summary for HYAL3 Gene

  • This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]

GeneCards Summary for HYAL3 Gene

HYAL3 (Hyaluronoglucosaminidase 3) is a Protein Coding gene. Diseases associated with HYAL3 include Mucopolysaccharidosis Type Ix. Among its related pathways are Glycosaminoglycan degradation and Chondroitin sulfate/dermatan sulfate metabolism. GO annotations related to this gene include virus receptor activity and hyaluronoglucuronidase activity. An important paralog of this gene is HYAL1.

Gene Wiki entry for HYAL3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HYAL3 Gene

Genomics for HYAL3 Gene

Regulatory Elements for HYAL3 Gene

Enhancers for HYAL3 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
GH03G050234 2.1 FANTOM5 Ensembl ENCODE dbSUPER 35.4 +54.2 54213 21.3 CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D HYAL3 GNAI2 HYAL1 CYB561D2 SEMA3B SEMA3B-AS1 LSMEM2 NAT6 IFRD2 SEMA3F-AS1
GH03G050257 2 FANTOM5 Ensembl ENCODE dbSUPER 35.5 +32.0 31967 19.3 CREB3L1 AGO1 DMAP1 FEZF1 YY1 ZNF416 ZNF143 SP3 MEF2D SSRP1 HYAL3 CYB561D2 NICN1 IFRD2 GNAI2 SEMA3F-AS1 HEMK1 AMT HYAL1 AMIGO3
GH03G050332 1.7 FANTOM5 ENCODE dbSUPER 39.2 -38.2 -38204 9.4 HDGF HNRNPUL1 PKNOX1 CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 HYAL3 CYB561D2 IFRD2 LSMEM2 HYAL1 RBM6 SEMA3F ENSG00000230454 RASSF1 SEMA3B
GH03G050227 2 FANTOM5 Ensembl ENCODE dbSUPER 16 +70.3 70346 4.6 HDGF PKNOX1 FOXA2 MLX SIN3A ARID4B DMAP1 ZBTB7B YY1 SLC30A9 HYAL3 SEMA3B SEMA3B-AS1 LSMEM2 IFRD2 GNAI2 CYB561D2 IP6K1 TUSC2 MIR5787
GH03G050319 1.4 ENCODE dbSUPER 20.5 -23.1 -23086 5.2 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 HYAL3 NICN1 HYAL1 CYB561D2 AMT GC03M050318 GC03M050319 HYAL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HYAL3 on UCSC Golden Path with GeneCards custom track

Promoters for HYAL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152338 68 1201 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 AGO1 ZFP64 ARID4B SIN3A FEZF1

Transcription factor binding sites by QIAGEN in the HYAL3 gene promoter:

Genomic Location for HYAL3 Gene

Chromosome:
3
Start:
50,292,828 bp from pter
End:
50,299,468 bp from pter
Size:
6,641 bases
Orientation:
Minus strand

Genomic View for HYAL3 Gene

Genes around HYAL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HYAL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HYAL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HYAL3 Gene

Proteins for HYAL3 Gene

  • Protein details for HYAL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43820-HYAL3_HUMAN
    Recommended name:
    Hyaluronidase-3
    Protein Accession:
    O43820
    Secondary Accessions:
    • O60540
    • Q8NFK2
    • Q8NFK3
    • Q8NFK4
    • Q96E56
    • Q9BRW9

    Protein attributes for HYAL3 Gene

    Size:
    417 amino acids
    Molecular mass:
    46501 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC70915.1; Type=Frameshift; Positions=410; Evidence={ECO:0000305};

    Alternative splice isoforms for HYAL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HYAL3 Gene

Selected DME Specific Peptides for HYAL3 Gene

O43820:
  • GVVLWGDLS
  • LRPHGLWGFY
  • FVRHRLEEAFRVAL
  • PLWAGNWG
  • ACSHQRCHGHGRC
  • GTAHNGGIPQA
  • WLWAASSALFPSIYLPP
  • LDPQEQL
  • GWAGPTC

Post-translational modifications for HYAL3 Gene

  • Glycosylation at posLast=6969 and isoforms=2215

Antibody Products

  • Abcam antibodies for HYAL3

Domains & Families for HYAL3 Gene

Suggested Antigen Peptide Sequences for HYAL3 Gene

Graphical View of Domain Structure for InterPro Entry

O43820

UniProtKB/Swiss-Prot:

HYAL3_HUMAN :
  • Belongs to the glycosyl hydrolase 56 family.
Family:
  • Belongs to the glycosyl hydrolase 56 family.
genes like me logo Genes that share domains with HYAL3: view

No data available for Gene Families for HYAL3 Gene

Function for HYAL3 Gene

Molecular function for HYAL3 Gene

GENATLAS Biochemistry:
hyaluroglucosaminidase 3,secreted in the sperm and involved in fertilization,involved in glycosaminoglycan catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.

Enzyme Numbers (IUBMB) for HYAL3 Gene

Gene Ontology (GO) - Molecular Function for HYAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 NOT virus receptor activity IDA 11296287
GO:0004415 hyalurononglucosaminidase activity IDA,IEA 11944887
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with HYAL3: view
genes like me logo Genes that share phenotypes with HYAL3: view

Animal Models for HYAL3 Gene

MGI Knock Outs for HYAL3:

Animal Model Products

CRISPR Products

miRNA for HYAL3 Gene

miRTarBase miRNAs that target HYAL3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HYAL3 Gene

Localization for HYAL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HYAL3 Gene

Secreted. Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HYAL3 gene
Compartment Confidence
lysosome 5
extracellular 4

Gene Ontology (GO) - Cellular Components for HYAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005764 lysosome IEA,IDA 16600643
GO:0031410 cytoplasmic vesicle IDA 18390475
genes like me logo Genes that share ontologies with HYAL3: view

Pathways & Interactions for HYAL3 Gene

genes like me logo Genes that share pathways with HYAL3: view

Interacting Proteins for HYAL3 Gene

Gene Ontology (GO) - Biological Process for HYAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006954 inflammatory response IDA 18390475
GO:0008152 metabolic process IEA --
GO:0009615 response to virus IDA 11296287
GO:0030214 hyaluronan catabolic process IDA,IEA 21699545
genes like me logo Genes that share ontologies with HYAL3: view

No data available for SIGNOR curated interactions for HYAL3 Gene

Drugs & Compounds for HYAL3 Gene

(1) Drugs for HYAL3 Gene - From: HMDB

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

(1) Additional Compounds for HYAL3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 HYAL3: view

Transcripts for HYAL3 Gene

Unigene Clusters for HYAL3 Gene

Hyaluronoglucosaminidase 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HYAL3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - - -
SP19: - - - - -
SP20: - -
SP21: -
SP22:
SP23: - - - - - - - - -
SP24: - -
SP25: - - -
SP26:
SP27: -

ExUns: 11d · 11e ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d · 15e ^ 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21a · 21b ^ 22a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6: - -
SP7: - -
SP8:
SP9:
SP10: - - - -
SP11: - - -
SP12:
SP13: - - -
SP14: - - - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

ExUns: 22b ^ 23a · 23b · 23c ^ 24a · 24b
SP1: - -
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

Relevant External Links for HYAL3 Gene

GeneLoc Exon Structure for
HYAL3
ECgene alternative splicing isoforms for
HYAL3

Expression for HYAL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HYAL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HYAL3 Gene

This gene is overexpressed in Testis (x4.9).

NURSA nuclear receptor signaling pathways regulating expression of HYAL3 Gene:

HYAL3

SOURCE GeneReport for Unigene cluster for HYAL3 Gene:

Hs.129910

mRNA Expression by UniProt/SwissProt for HYAL3 Gene:

O43820-HYAL3_HUMAN
Tissue specificity: Bone marrow, testis and kidney. Isoform 4 is detected in all bladder tumor and prostate tumor cells.

Evidence on tissue expression from TISSUES for HYAL3 Gene

  • Bone marrow(4)
  • Nervous system(2.9)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with HYAL3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HYAL3 Gene

Orthologs for HYAL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for HYAL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HYAL3 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia HYAL3 34 35
  • 86.87 (n)
cow
(Bos Taurus)
Mammalia HYAL3 34
  • 86.7 (n)
-- 35
  • 32 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Hyal3 34
  • 83.62 (n)
mouse
(Mus musculus)
Mammalia Hyal3 34 16 35
  • 81.43 (n)
oppossum
(Monodelphis domestica)
Mammalia HYAL3 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 36 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HYAL3 34 35
  • 62.66 (n)
lizard
(Anolis carolinensis)
Reptilia HYAL3 35
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hyal3 34 35
  • 50.66 (n)
worm
(Caenorhabditis elegans)
Secernentea T22C8.2 36
  • 29 (a)
chhy-1 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for HYAL3 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HYAL3 Gene

ENSEMBL:
Gene Tree for HYAL3 (if available)
TreeFam:
Gene Tree for HYAL3 (if available)

Paralogs for HYAL3 Gene

Paralogs for HYAL3 Gene

(6) SIMAP similar genes for HYAL3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HYAL3: view

Variants for HYAL3 Gene

Sequence variations from dbSNP and Humsavar for HYAL3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs117179004 Likely benign 50,300,616(+) CAGGC(A/G)TGAGC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1283 Likely benign 50,299,991(-) GGGTA(C/T)AGCCC nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs142342237 Uncertain significance 50,300,514(+) ACGGT(C/G)CCTGC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs150976767 Uncertain significance 50,300,024(+) TGAAT(C/T)TCAAC nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs182987423 Uncertain significance 50,300,049(+) GCTGT(A/G)CAACC nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HYAL3 Gene

Variant ID Type Subtype PubMed ID
dgv8316n54 CNV loss 21841781
dgv8317n54 CNV loss 21841781
esv2759148 CNV loss 17122850
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 HYAL3 Gene

Residual Variation Intolerance Score: 32.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HYAL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HYAL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HYAL3 Gene

Disorders for HYAL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HYAL3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis type ix
  • mucopolysaccharidosis, type ix
- elite association - COSMIC cancer census association via MalaCards
Search HYAL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HYAL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HYAL3
genes like me logo Genes that share disorders with HYAL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HYAL3 Gene

Publications for HYAL3 Gene

  1. Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. (PMID: 10493834) Csoka A.B. … Stern R. (Genomics 1999) 2 3 4 64
  2. Expression of hyaluronan synthases and hyaluronidases in the MG63 osteoblast cell line. (PMID: 16203124) Adams J.R. … Byers S. (Matrix Biol. 2006) 3 22 64
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Expression and regulation patterns of hyaluronidases in small cell lung cancer and glioma lines. (PMID: 12684632) Junker N. … Kristjansen P.E. (Oncol. Rep. 2003) 3 22 64

Products for HYAL3 Gene

Sources for HYAL3 Gene

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