InnateDB Protein
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IDBP-240161.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HYAL1
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Protein Name
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hyaluronoglucosaminidase 1
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Synonyms
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HYAL-1; LUCA1; NAT6;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000378575
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InnateDB Gene
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IDBG-36447 (HYAL1)
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Protein Structure
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Function |
May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth. {ECO:0000269PubMed:12084718}.
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Subcellular Localization |
Secreted {ECO:0000269PubMed:9223416}. Lysosome {ECO:0000269PubMed:9223416}.
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Disease Associations |
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:0000269PubMed:10339581}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:10339581, ECO:0000269PubMed:12084718, ECO:0000269PubMed:9223416}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR017853
Glycoside hydrolase, superfamily
IPR018155
Hyaluronidase
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PFAM |
PF01630
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PRINTS |
PR00846
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PIRSF |
PIRSF038193
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q12794
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PhosphoSite |
PhosphoSite-Q12794
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TrEMBL |
C9JRK1
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UniProt Splice Variant |
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Entrez Gene |
3373
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UniGene |
Hs.75619
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RefSeq |
NP_695014
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HUGO |
HGNC:5320
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OMIM |
607071
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CCDS |
CCDS2817
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HPRD |
06146
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IMGT |
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EMBL |
AC002455
AF118821
AF173154
AF502904
AF502905
AF502906
AF502907
AF502908
BC025774
BC035695
CR541933
U03056
U73167
U96078
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GenPept |
AAB67046
AAC02730
AAD04190
AAD09137
AAD24460
AAD53277
AAH25774
AAH35695
AAM60770
AAM60771
AAM60772
AAM60773
AAM60774
CAG46731
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