| Gene Symbol |
HGSNAT
|
| 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
|