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Q12794

- HYAL1_HUMAN

UniProt

Q12794 - HYAL1_HUMAN

Protein

Hyaluronidase-1

Gene

HYAL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.1 Publication

    Catalytic activityi

    Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.

    pH dependencei

    Optimum pH is about 3.8.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei131 – 1311Proton donorCurated

    GO - Molecular functioni

    1. hyaluronan synthase activity Source: UniProtKB
    2. hyalurononglucosaminidase activity Source: UniProtKB
    3. transcription factor binding Source: UniProtKB

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. cartilage development Source: UniProtKB
    3. cellular response to fibroblast growth factor stimulus Source: UniProtKB
    4. cellular response to interleukin-1 Source: UniProtKB
    5. cellular response to pH Source: UniProtKB
    6. cellular response to platelet-derived growth factor stimulus Source: UniProtKB
    7. cellular response to tumor necrosis factor Source: UniProtKB
    8. cellular response to UV-B Source: UniProtKB
    9. chondroitin sulfate catabolic process Source: Reactome
    10. chondroitin sulfate metabolic process Source: Reactome
    11. embryonic skeletal joint morphogenesis Source: Ensembl
    12. glycosaminoglycan metabolic process Source: Reactome
    13. hyaluronan biosynthetic process Source: UniProtKB
    14. hyaluronan catabolic process Source: UniProtKB
    15. hyaluronan metabolic process Source: UniProtKB
    16. inflammatory response Source: UniProtKB
    17. negative regulation of cell growth Source: UniProtKB
    18. positive regulation of angiogenesis Source: UniProtKB
    19. positive regulation of cell adhesion Source: UniProtKB
    20. positive regulation of cell growth Source: UniProtKB
    21. positive regulation of epithelial cell migration Source: UniProtKB
    22. positive regulation of epithelial cell proliferation Source: UniProtKB
    23. positive regulation of growth Source: UniProtKB
    24. positive regulation of hyaluranon cable assembly Source: UniProtKB
    25. response to antibiotic Source: UniProtKB
    26. response to reactive oxygen species Source: UniProtKB
    27. response to virus Source: UniProtKB
    28. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS03763-MONOMER.
    BRENDAi3.2.1.35. 2681.
    ReactomeiREACT_120888. CS/DS degradation.
    REACT_120996. Hyaluronan uptake and degradation.

    Protein family/group databases

    CAZyiGH56. Glycoside Hydrolase Family 56.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hyaluronidase-1 (EC:3.2.1.35)
    Short name:
    Hyal-1
    Alternative name(s):
    Hyaluronoglucosaminidase-1
    Lung carcinoma protein 1
    Short name:
    LuCa-1
    Gene namesi
    Name:HYAL1
    Synonyms:LUCA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:5320. HYAL1.

    Subcellular locationi

    Secreted 1 Publication. Lysosome 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytoplasmic vesicle Source: UniProtKB
    3. extracellular space Source: UniProtKB
    4. extracellular vesicular exosome Source: UniProt
    5. hyaluranon cable Source: UniProtKB
    6. lysosomal lumen Source: Reactome
    7. lysosome Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti268 – 2681E → K in MPS9. 1 Publication
    VAR_023643

    Keywords - Diseasei

    Disease mutation, Mucopolysaccharidosis

    Organism-specific databases

    MIMi601492. phenotype.
    Orphaneti67041. Hyaluronidase deficiency.
    PharmGKBiPA29571.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 435414Hyaluronidase-1PRO_0000042622Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi43 ↔ 3331 Publication
    Glycosylationi99 – 991N-linked (GlcNAc...)1 Publication
    Disulfide bondi207 ↔ 2211 Publication
    Glycosylationi216 – 2161N-linked (GlcNAc...)1 Publication
    Glycosylationi350 – 3501N-linked (GlcNAc...)1 Publication
    Disulfide bondi358 ↔ 3691 Publication
    Disulfide bondi363 ↔ 4181 Publication
    Disulfide bondi420 ↔ 4291 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ12794.
    PaxDbiQ12794.
    PRIDEiQ12794.

    Expressioni

    Tissue specificityi

    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.3 Publications

    Gene expression databases

    ArrayExpressiQ12794.
    BgeeiQ12794.
    GenevestigatoriQ12794.

    Organism-specific databases

    HPAiHPA002112.

    Interactioni

    Protein-protein interaction databases

    BioGridi109603. 2 interactions.
    IntActiQ12794. 1 interaction.

    Structurei

    Secondary structure

    1
    435
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi24 – 274
    Beta strandi30 – 389
    Helixi40 – 478
    Beta strandi56 – 594
    Beta strandi69 – 746
    Beta strandi78 – 803
    Helixi97 – 993
    Helixi102 – 11615
    Beta strandi124 – 1285
    Helixi137 – 1393
    Helixi142 – 1443
    Helixi145 – 15814
    Beta strandi159 – 1613
    Helixi164 – 19330
    Beta strandi197 – 2026
    Helixi223 – 2308
    Helixi233 – 2386
    Beta strandi240 – 2434
    Helixi250 – 2523
    Helixi258 – 27518
    Helixi300 – 3045
    Helixi307 – 3126
    Beta strandi316 – 3216
    Helixi324 – 3263
    Beta strandi327 – 3293
    Helixi330 – 34213
    Helixi344 – 36219
    Beta strandi366 – 3716
    Turni384 – 3863
    Beta strandi387 – 3915
    Helixi393 – 3953
    Beta strandi398 – 4025
    Helixi406 – 41510
    Beta strandi416 – 4205
    Turni426 – 4294

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2PE4X-ray2.00A22-435[»]
    ProteinModelPortaliQ12794.
    SMRiQ12794. Positions 20-435.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ12794.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini354 – 43077EGF-likeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 56 family.Curated
    Contains 1 EGF-like domain.Curated

    Keywords - Domaini

    EGF-like domain, Signal

    Phylogenomic databases

    eggNOGiNOG77606.
    HOVERGENiHBG052053.
    InParanoidiQ12794.
    KOiK01197.
    OMAiYPSIYMP.
    PhylomeDBiQ12794.
    TreeFamiTF321598.

    Family and domain databases

    Gene3Di3.20.20.70. 1 hit.
    InterProiIPR013785. Aldolase_TIM.
    IPR000742. EG-like_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR018155. Hyaluronidase.
    [Graphical view]
    PANTHERiPTHR11769. PTHR11769. 1 hit.
    PfamiPF01630. Glyco_hydro_56. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038193. Hyaluronidase. 1 hit.
    PRINTSiPR00846. GLHYDRLASE56.
    SMARTiSM00181. EGF. 1 hit.
    [Graphical view]
    SUPFAMiSSF51445. SSF51445. 1 hit.
    PROSITEiPS01186. EGF_2. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q12794-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAHLLPICA LFLTLLDMAQ GFRGPLLPNR PFTTVWNANT QWCLERHGVD    50
    VDVSVFDVVA NPGQTFRGPD MTIFYSSQLG TYPYYTPTGE PVFGGLPQNA 100
    SLIAHLARTF QDILAAIPAP DFSGLAVIDW EAWRPRWAFN WDTKDIYRQR 150
    SRALVQAQHP DWPAPQVEAV AQDQFQGAAR AWMAGTLQLG RALRPRGLWG 200
    FYGFPDCYNY DFLSPNYTGQ CPSGIRAQND QLGWLWGQSR ALYPSIYMPA 250
    VLEGTGKSQM YVQHRVAEAF RVAVAAGDPN LPVLPYVQIF YDTTNHFLPL 300
    DELEHSLGES AAQGAAGVVL WVSWENTRTK ESCQAIKEYM DTTLGPFILN 350
    VTSGALLCSQ ALCSGHGRCV RRTSHPKALL LLNPASFSIQ LTPGGGPLSL 400
    RGALSLEDQA QMAVEFKCRC YPGWQAPWCE RKSMW 435
    Length:435
    Mass (Da):48,368
    Last modified:March 1, 2001 - v2
    Checksum:i9C2B2D8DB361E0BB
    GO
    Isoform 2 (identifier: Q12794-2) [UniParc]FASTAAdd to Basket

    Also known as: HYAl1v1

    The sequence of this isoform differs from the canonical sequence as follows:
         301-330: Missing.

    Note: Enzymatically inactive.

    Show »
    Length:405
    Mass (Da):45,145
    Checksum:iC24DAD360D9CF032
    GO
    Isoform 3 (identifier: Q12794-3) [UniParc]FASTAAdd to Basket

    Also known as: HYAl1v2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-182: Missing.

    Note: Enzymatically inactive.

    Show »
    Length:253
    Mass (Da):27,958
    Checksum:i441C0DB43301E03F
    GO
    Isoform 4 (identifier: Q12794-4) [UniParc]FASTAAdd to Basket

    Also known as: HYAl1v3

    The sequence of this isoform differs from the canonical sequence as follows:
         208-209: YN → SG
         210-435: Missing.

    Note: Enzymatically inactive.

    Show »
    Length:209
    Mass (Da):23,338
    Checksum:i5C1046F8199F3BFF
    GO
    Isoform 5 (identifier: Q12794-5) [UniParc]FASTAAdd to Basket

    Also known as: HYAl1v4

    The sequence of this isoform differs from the canonical sequence as follows:
         1-259: Missing.

    Note: Enzymatically inactive.

    Show »
    Length:176
    Mass (Da):19,367
    Checksum:i75F674283B175FDD
    GO
    Isoform 6 (identifier: Q12794-6) [UniParc]FASTAAdd to Basket

    Also known as: HYAl1v5

    The sequence of this isoform differs from the canonical sequence as follows:
         1-339: Missing.

    Note: Enzymatically inactive.

    Show »
    Length:96
    Mass (Da):10,435
    Checksum:i70AD570E4305A4E8
    GO
    Isoform 7 (identifier: Q12794-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         331-336: ESCQAI → VSLGLA
         337-435: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:336
    Mass (Da):37,439
    Checksum:i7D19178001F20E51
    GO

    Sequence cautioni

    The sequence AAH25774.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti3 – 31A → G in CAG46731. 1 PublicationCurated
    Sequence conflicti191 – 1911R → G in AAD53277. (PubMed:8603390)Curated
    Sequence conflicti300 – 3001L → Q in AAD24460. (PubMed:10702795)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti268 – 2681E → K in MPS9. 1 Publication
    VAR_023643

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 339339Missing in isoform 6. 1 PublicationVSP_015915Add
    BLAST
    Alternative sequencei1 – 259259Missing in isoform 5. 1 PublicationVSP_015916Add
    BLAST
    Alternative sequencei1 – 182182Missing in isoform 3. 1 PublicationVSP_015917Add
    BLAST
    Alternative sequencei208 – 2092YN → SG in isoform 4. 1 PublicationVSP_015918
    Alternative sequencei210 – 435226Missing in isoform 4. 1 PublicationVSP_015919Add
    BLAST
    Alternative sequencei301 – 33030Missing in isoform 2. 2 PublicationsVSP_015920Add
    BLAST
    Alternative sequencei331 – 3366ESCQAI → VSLGLA in isoform 7. 1 PublicationVSP_015921
    Alternative sequencei337 – 43599Missing in isoform 7. 1 PublicationVSP_015922Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03056 mRNA. Translation: AAD09137.2.
    U96078 mRNA. Translation: AAD04190.1.
    AF118821 mRNA. Translation: AAD24460.1.
    AF502904 mRNA. Translation: AAM60770.1.
    AF502905 mRNA. Translation: AAM60771.1.
    AF502906 mRNA. Translation: AAM60772.1.
    AF502907 mRNA. Translation: AAM60773.1.
    AF502908 mRNA. Translation: AAM60774.1.
    AF173154 mRNA. Translation: AAD53277.1.
    CR541933 mRNA. Translation: CAG46731.1.
    AC002455 Genomic DNA. Translation: AAB67046.1.
    U73167 Genomic DNA. Translation: AAC02730.1.
    BC025774 mRNA. Translation: AAH25774.1. Different initiation.
    BC035695 mRNA. Translation: AAH35695.1.
    CCDSiCCDS2816.1. [Q12794-1]
    CCDS2817.1. [Q12794-2]
    CCDS46832.1. [Q12794-3]
    CCDS46833.1. [Q12794-5]
    PIRiJC5584.
    RefSeqiNP_149349.2. NM_033159.3. [Q12794-1]
    NP_695013.1. NM_153281.1. [Q12794-1]
    NP_695014.1. NM_153282.2. [Q12794-2]
    NP_695015.1. NM_153283.2. [Q12794-3]
    NP_695017.1. NM_153285.2. [Q12794-5]
    UniGeneiHs.75619.

    Genome annotation databases

    EnsembliENST00000266031; ENSP00000266031; ENSG00000114378. [Q12794-1]
    ENST00000320295; ENSP00000346068; ENSG00000114378. [Q12794-1]
    ENST00000395143; ENSP00000378575; ENSG00000114378. [Q12794-2]
    ENST00000395144; ENSP00000378576; ENSG00000114378. [Q12794-1]
    ENST00000447605; ENSP00000390149; ENSG00000114378. [Q12794-5]
    ENST00000457214; ENSP00000393358; ENSG00000114378. [Q12794-3]
    GeneIDi3373.
    KEGGihsa:3373.
    UCSCiuc003czm.4. human. [Q12794-1]
    uc003czn.4. human. [Q12794-6]
    uc003czo.4. human. [Q12794-5]
    uc003czq.4. human. [Q12794-2]
    uc003czt.4. human. [Q12794-7]

    Polymorphism databases

    DMDMi74735617.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U03056 mRNA. Translation: AAD09137.2 .
    U96078 mRNA. Translation: AAD04190.1 .
    AF118821 mRNA. Translation: AAD24460.1 .
    AF502904 mRNA. Translation: AAM60770.1 .
    AF502905 mRNA. Translation: AAM60771.1 .
    AF502906 mRNA. Translation: AAM60772.1 .
    AF502907 mRNA. Translation: AAM60773.1 .
    AF502908 mRNA. Translation: AAM60774.1 .
    AF173154 mRNA. Translation: AAD53277.1 .
    CR541933 mRNA. Translation: CAG46731.1 .
    AC002455 Genomic DNA. Translation: AAB67046.1 .
    U73167 Genomic DNA. Translation: AAC02730.1 .
    BC025774 mRNA. Translation: AAH25774.1 . Different initiation.
    BC035695 mRNA. Translation: AAH35695.1 .
    CCDSi CCDS2816.1. [Q12794-1 ]
    CCDS2817.1. [Q12794-2 ]
    CCDS46832.1. [Q12794-3 ]
    CCDS46833.1. [Q12794-5 ]
    PIRi JC5584.
    RefSeqi NP_149349.2. NM_033159.3. [Q12794-1 ]
    NP_695013.1. NM_153281.1. [Q12794-1 ]
    NP_695014.1. NM_153282.2. [Q12794-2 ]
    NP_695015.1. NM_153283.2. [Q12794-3 ]
    NP_695017.1. NM_153285.2. [Q12794-5 ]
    UniGenei Hs.75619.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2PE4 X-ray 2.00 A 22-435 [» ]
    ProteinModelPortali Q12794.
    SMRi Q12794. Positions 20-435.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109603. 2 interactions.
    IntActi Q12794. 1 interaction.

    Chemistry

    BindingDBi Q12794.
    ChEMBLi CHEMBL4528.
    DrugBanki DB00070. Hyaluronidase.

    Protein family/group databases

    CAZyi GH56. Glycoside Hydrolase Family 56.

    Polymorphism databases

    DMDMi 74735617.

    Proteomic databases

    MaxQBi Q12794.
    PaxDbi Q12794.
    PRIDEi Q12794.

    Protocols and materials databases

    DNASUi 3373.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266031 ; ENSP00000266031 ; ENSG00000114378 . [Q12794-1 ]
    ENST00000320295 ; ENSP00000346068 ; ENSG00000114378 . [Q12794-1 ]
    ENST00000395143 ; ENSP00000378575 ; ENSG00000114378 . [Q12794-2 ]
    ENST00000395144 ; ENSP00000378576 ; ENSG00000114378 . [Q12794-1 ]
    ENST00000447605 ; ENSP00000390149 ; ENSG00000114378 . [Q12794-5 ]
    ENST00000457214 ; ENSP00000393358 ; ENSG00000114378 . [Q12794-3 ]
    GeneIDi 3373.
    KEGGi hsa:3373.
    UCSCi uc003czm.4. human. [Q12794-1 ]
    uc003czn.4. human. [Q12794-6 ]
    uc003czo.4. human. [Q12794-5 ]
    uc003czq.4. human. [Q12794-2 ]
    uc003czt.4. human. [Q12794-7 ]

    Organism-specific databases

    CTDi 3373.
    GeneCardsi GC03M050339.
    HGNCi HGNC:5320. HYAL1.
    HPAi HPA002112.
    MIMi 601492. phenotype.
    607071. gene.
    neXtProti NX_Q12794.
    Orphaneti 67041. Hyaluronidase deficiency.
    PharmGKBi PA29571.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG77606.
    HOVERGENi HBG052053.
    InParanoidi Q12794.
    KOi K01197.
    OMAi YPSIYMP.
    PhylomeDBi Q12794.
    TreeFami TF321598.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS03763-MONOMER.
    BRENDAi 3.2.1.35. 2681.
    Reactomei REACT_120888. CS/DS degradation.
    REACT_120996. Hyaluronan uptake and degradation.

    Miscellaneous databases

    EvolutionaryTracei Q12794.
    GeneWikii HYAL1.
    GenomeRNAii 3373.
    NextBioi 13338.
    PROi Q12794.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12794.
    Bgeei Q12794.
    Genevestigatori Q12794.

    Family and domain databases

    Gene3Di 3.20.20.70. 1 hit.
    InterProi IPR013785. Aldolase_TIM.
    IPR000742. EG-like_dom.
    IPR017853. Glycoside_hydrolase_SF.
    IPR018155. Hyaluronidase.
    [Graphical view ]
    PANTHERi PTHR11769. PTHR11769. 1 hit.
    Pfami PF01630. Glyco_hydro_56. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038193. Hyaluronidase. 1 hit.
    PRINTSi PR00846. GLHYDRLASE56.
    SMARTi SM00181. EGF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51445. SSF51445. 1 hit.
    PROSITEi PS01186. EGF_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Wei M.H., Latif F., Bader S., Kashuba V., Chen J.Y., Duh F.-M., Sekido Y., Lee C.C., Geil L., Kuzmin I., Zabarovsky E., Klein G., Zbar B., Minna J.D., Lerman M.I.
      Cancer Res. 56:1487-1492(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Heart and Lung cancer.
    2. "Purification, cloning, and expression of human plasma hyaluronidase."
      Frost G.I., Csoka A.B., Wong T., Stern R.
      Biochem. Biophys. Res. Commun. 236:10-15(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 22-37; 72-84; 248-259 AND 261-273, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Plasma.
    3. "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."
      Frost G.I., Mohapatra G., Wong T.M., Csoka A.B., Gray J.W., Stern R.
      Oncogene 19:870-877(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "Regulation of hyaluronidase activity by alternative mRNA splicing."
      Lokeshwar V.B., Schroeder G.L., Carey R.I., Soloway M.S., Iida N.
      J. Biol. Chem. 277:33654-33663(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 5 AND 6), FUNCTION, TISSUE SPECIFICITY.
    5. Forgacs E., Sekido Y., Bader S., Cundiff S., Compton L., Latif F., Lerman M.I., Minna J.D.
      Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    7. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 7).
      Tissue: Colon and Pancreas.
    9. "Structure of human hyaluronidase-1, a hyaluronan hydrolyzing enzyme involved in tumor growth and angiogenesis."
      Chao K.L., Muthukumar L., Herzberg O.
      Biochemistry 46:6911-6920(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 20-435; IDENTIFICATION BY MASS SPECTROMETRY, GLYCOSYLATION AT ASN-99; ASN-216 AND ASN-350, DISULFIDE BONDS.
    10. "Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX."
      Triggs-Raine B., Salo T.J., Zhang H., Wicklow B.A., Natowicz M.R.
      Proc. Natl. Acad. Sci. U.S.A. 96:6296-6300(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MPS9 LYS-268, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiHYAL1_HUMAN
    AccessioniPrimary (citable) accession number: Q12794
    Secondary accession number(s): Q6FH23
    , Q6PIZ6, Q7KYU2, Q7LE34, Q8NFK5, Q8NFK6, Q8NFK7, Q8NFK8, Q8NFK9, Q93013, Q9UKD5, Q9UNI8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2005
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 125 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3