Gene Symbol | HGSNAT |
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Entrez Gene | 138050 |
Alt Symbol | HGNAT, MPS3C, TMEM76 |
Species | Human |
Gene Type | protein-coding |
Description | heparan-alpha-glucosaminide N-acetyltransferase |
Other Description | transmembrane protein 76 |
Swissprots | B4E2V0 Q68CP4 |
Accessions | Q68CP4 AK025895 BAB15273 AK057293 BAB71412 AK074839 AK304441 BAG65262 AK308922 AL355714 AL832870 BC012452 AAH12452 BC042037 AAH42037 BC050672 BC056149 BE327420 CR457352 CAG33633 CR749838 CAH18694 DA395558 DB128369 XM_005273409 XP_005273466 XM_005273410 XP_005273467 XM_005273411 XP_005273468 XM_005273412 XP_005273469 NM_152419 NP_689632 |
Function | Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958, ECO:0000269|PubMed:19823584, ECO:0000269|PubMed:20650889}. |
Subcellular Location | Lysosome membrane {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958, ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958, ECO:0000269|PubMed:17897319}. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain. |
Tissue Specificity | Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver. {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958}. |
Top Pathways | Lysosome, Glycosaminoglycan degradation |
HGSNAT CRISPR/Cas9 KO Plasmid (h) - sc-407552 from Santa Cruz Biotechnology
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HGSNAT HDR Plasmid (h) - sc-407552-HDR from Santa Cruz Biotechnology
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HGSNAT Double Nickase Plasmid (h) - sc-407552-NIC from Santa Cruz Biotechnology
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HGSNAT Double Nickase Plasmid (h2) - sc-407552-NIC-2 from Santa Cruz Biotechnology
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HGSNAT CRISPR Activation Plasmid (h) - sc-407552-ACT from Santa Cruz Biotechnology
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HGSNAT CRISPR Activation Plasmid (h2) - sc-407552-ACT-2 from Santa Cruz Biotechnology
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HGSNAT Lentiviral Activation Particles (h) - sc-407552-LAC from Santa Cruz Biotechnology
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HGSNAT Lentiviral Activation Particles (h2) - sc-407552-LAC-2 from Santa Cruz Biotechnology
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HGSNAT siRNA (h) - sc-75251 from Santa Cruz Biotechnology
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HGSNAT shRNA Plasmid (h) - sc-75251-SH from Santa Cruz Biotechnology
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HGSNAT shRNA (h) Lentiviral Particles - sc-75251-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU019871 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN10014 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND10014 from Sigma-Aldrich
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HGSNAT siRNA (Human) - CRJ5214 from Cohesion Biosciences
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HGSNAT - MBS8208475 from MyBioSource
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shRNA set against Human HGSNAT (NM_152419.2) - SHH311945 from Creative biogene
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HGSNAT shRNA Plasmid (Human) - CHJ5214 from Cohesion Biosciences
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