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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


HGSNAT heparan-alpha-glucosaminide N-acetyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_152419 Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005273409 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005273410 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005273411 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005273412 PREDICTED: Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol HGSNAT
Entrez Gene ID 138050
Full Name heparan-alpha-glucosaminide N-acetyltransferase
Synonyms HGNAT, MPS3C, TMEM76
General protein information
Preferred Names
heparan-alpha-glucosaminide N-acetyltransferase
Names
heparan-alpha-glucosaminide N-acetyltransferase
transmembrane protein 76
NP_689632.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8p11.1

Summary This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009].
Disorder

MIM: 610453

Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)

mRNA Protein Product Sequence Price Select
NM_152419, 150378451 NP_689632, 150378452 heparan-alpha-glucosaminide N-acetyltransferase precursor ORF Sequence $700.00
XM_005273409, 530387582 XP_005273466, 530387583 heparan-alpha-glucosaminide N-acetyltransferase isoform X1 ORF Sequence $700.00
XM_005273410, 530387584 XP_005273467, 530387585 heparan-alpha-glucosaminide N-acetyltransferase isoform X2 ORF Sequence $700.00
XM_005273411, 530387586 XP_005273468, 530387587 heparan-alpha-glucosaminide N-acetyltransferase isoform X3 ORF Sequence $700.00
XM_005273412, 530387588 XP_005273469, 530387589 heparan-alpha-glucosaminide N-acetyltransferase isoform X4 ORF Sequence $550.00
KEGG
hsa00531Glycosaminoglycan degradation
hsa04142Lysosome
hsa_M00078Heparan sulfate degradation
Homo sapiens (human)HGSNATNP_689632.2
Pan troglodytes (chimpanzee)HGSNATXP_519741.3
Macaca mulatta (Rhesus monkey)LOC720331XP_001115683.2
Canis lupus familiaris (dog)HGSNATXP_539948.4
Bos taurus (cattle)HGSNATXP_002698775.2
Mus musculus (house mouse)HgsnatNP_084160.1
Gallus gallus (chicken)HGSNATXP_420455.3
Danio rerio (zebrafish)hgsnatXP_002660455.2
Drosophila melanogaster (fruit fly)CG6903NP_572198.1
Arabidopsis thaliana (thale cress)AT5G27730NP_568500.1
Xenopus (Silurana) tropicalis (western clawed frog)hgsnatXP_002934053.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0006027glycosaminoglycan catabolic processTAS
GO:0007041lysosomal transportIDA
GO:0030203glycosaminoglycan metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0051259protein oligomerizationIDA
Component
IDNameEvidence
GO:0005765lysosomal membraneIDA
GO:0005765lysosomal membraneTAS
GO:0016021integral component of membraneIEA
Function
IDNameEvidence
GO:0015019heparan-alpha-glucosaminide N-acetyltransferase activityIEA
GO:0016746transferase activity, transferring acyl groupsIDA
GeneCards HGSNAT
UniProt Q68CP4, Q8IVU6
Vega OTTHUMG00000164102
MIM 610453
Ensembl ENSG00000165102
HGNC 26527

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the HGSNAT gene?

The HGSNAT gene provides instructions for producing an enzyme called heparan-alpha-glucosaminide N-acetyltransferase (which is often shortened to N-acetyltransferase). This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. N-acetyltransferase is involved in the step-wise breakdown (degradation) of large molecules called glycosaminoglycans (GAGs). GAGs are composed of sugar molecules that are linked together to form a long string. To break down these large molecules, individual sugars are removed one at a time from one end of the molecule. N-acetyltransferase adds a molecule called an acetyl group to the sugar glucosamine in a subset of GAGs called heparan sulfate. This addition prepares the GAG for the next step in the degradation process.

Interactant

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