About   Help   FAQ
Sequence Detail
ID/Version
Q3UDW8 Q3TWK5 E9QNP9 Q8CBU7 Q8CIE1 (UniProt | EBI) Last sequence update: 2011-07-27
Last annotation update: 2024-01-24
Sequence
description
from provider
RecName: Full=Heparan-alpha-glucosaminide N-acetyltransferase; EC=2.3.1.78;AltName: Full=Transmembrane protein 76;
Provider SWISS-PROT
Sequence
Polypeptide 656 aa
For this sequence
Source
Organism mouse
See UniProt | EBI for source
Annotated genes and markers Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.
Type Symbol Name GO Terms Expression
Assays
Orthologs Phenotypic
Alleles
Gene Hgsnat heparan-alpha-glucosaminide N-acetyltransferase 14 100 2 15
Sequence references in MGI J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:119879 Fan X, et al., Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet. 2006 Oct;79(4):738-44
J:223347 Haer-Wigman L, et al., Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum Mol Genet. 2015 Jul 1;24(13):3742-51
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/16/2024
MGI 6.23
The Jackson Laboratory