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Protein

Heparan-alpha-glucosaminide N-acetyltransferase

Gene

HGSNAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.4 Publications

Miscellaneous

A signal sequence is predicted but has been shown not to be cleaved in the reticulum endoplasmic.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei2971 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Transferase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.3.1.78 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2024096 HS-GAG degradation
R-HSA-2206291 MPS IIIC - Sanfilippo syndrome C
R-HSA-6798695 Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q68CP4

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.B.169.4.1 the integral membrane protein (8 -10 tmss) yeib or duf418 (yeib) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Heparan-alpha-glucosaminide N-acetyltransferase (EC:2.3.1.78)
Alternative name(s):
Transmembrane protein 76
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HGSNAT
Synonyms:TMEM76
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000165102.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26527 HGSNAT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610453 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q68CP4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 190Lumenal, vesicleSequence analysisAdd BLAST190
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei191 – 211HelicalSequence analysisAdd BLAST21
Topological domaini212 – 275CytoplasmicSequence analysisAdd BLAST64
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Topological domaini297 – 302Lumenal, vesicleSequence analysis6
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Topological domaini324 – 345CytoplasmicSequence analysisAdd BLAST22
Transmembranei346 – 366HelicalSequence analysisAdd BLAST21
Topological domaini367 – 374Lumenal, vesicleSequence analysis8
Transmembranei375 – 395HelicalSequence analysisAdd BLAST21
Topological domaini396 – 420CytoplasmicSequence analysisAdd BLAST25
Transmembranei421 – 441HelicalSequence analysisAdd BLAST21
Topological domaini442 – 500Lumenal, vesicleSequence analysisAdd BLAST59
Transmembranei501 – 521HelicalSequence analysisAdd BLAST21
Topological domaini522 – 529CytoplasmicSequence analysis8
Transmembranei530 – 550HelicalSequence analysisAdd BLAST21
Topological domaini551 – 564Lumenal, vesicleSequence analysisAdd BLAST14
Transmembranei565 – 585HelicalSequence analysisAdd BLAST21
Topological domaini586 – 592CytoplasmicSequence analysis7
Transmembranei593 – 613HelicalSequence analysisAdd BLAST21
Topological domaini614 – 634Lumenal, vesicleSequence analysisAdd BLAST21
Transmembranei635 – 655HelicalSequence analysisAdd BLAST21
Topological domaini656 – 663CytoplasmicSequence analysis8

Keywords - Cellular componenti

Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mucopolysaccharidosis 3C (MPS3C)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
See also OMIM:252930
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07581282A → V in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_063983104C → F in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; loss of intralysosomal proteolytic cleavage. 4 Publications1
Natural variantiVAR_075813141L → P in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_063984165L → P in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 5 Publications1
Natural variantiVAR_063986280I → R in MPS3C. 1 Publication1
Natural variantiVAR_063987290G → R in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_063988301N → K in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity. 2 Publications1
Natural variantiVAR_030083311P → L in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 4 Publications1
Natural variantiVAR_030084372R → C in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 4 Publications1
Natural variantiVAR_063989372R → H in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity. 2 Publications1
Natural variantiVAR_063990431W → C in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 4 Publications1
Natural variantiVAR_030085452G → S in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_075816452G → V in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_075817473L → P in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_030086499E → K in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 5 Publications1
Natural variantiVAR_030087510M → K in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_063992514G → E in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_063993517A → E in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_063994546S → F in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 6 Publications1
Natural variantiVAR_063996567S → C in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_030088569S → L in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity. 4 Publications1
Natural variantiVAR_030089590D → V in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity. 3 Publications1
Natural variantiVAR_030090599P → L in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity. 3 Publications1
Retinitis pigmentosa 73 (RP73)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:616544
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075814152R → W in RP73. 1 Publication1
Natural variantiVAR_075815161G → A in RP73. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi107C → S: Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation. 1 Publication1
Mutagenesisi151C → S: Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation. 1 Publication1
Mutagenesisi179C → S: Loss of intralysosomal proteolytic cleavage and enzymatic activity. 1 Publication1
Mutagenesisi236L → A: Displayed both lysosomal and plasma membrane localization, reduced intralysosomal proteolytic cleavage and enzymatic activity; when associated with A-209. 1 Publication1
Mutagenesisi237I → A: Displayed both lysosomal and plasma membrane localization, reduced intralysosomal proteolytic cleavage and enzymatic activity; when associated with A-208. 1 Publication1
Mutagenesisi297H → A: Loss of enzymatic activity, but correctly targeted and processed. 1 Publication1
Mutagenesisi333C → S: No loss of intralysosomal proteolytic cleavage and enzymatic activity. 1 Publication1
Mutagenesisi402C → S: No loss of intralysosomal proteolytic cleavage and enzymatic activity. 1 Publication1
Mutagenesisi462C → S: Complete loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation. 1 Publication1
Mutagenesisi479H → A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum. 1 Publication1
Mutagenesisi633H → A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum. 1 Publication1
Mutagenesisi652 – 663Missing : Loss of intralysosomal proteolytic cleavage and enzymatic activity. Localized in the plasma membrane. Add BLAST12

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
138050

MalaCards human disease database

More...
MalaCardsi
HGSNAT
MIMi252930 phenotype
616544 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165102

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791 Retinitis pigmentosa
79271 Sanfilippo syndrome type C

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162390851

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HGSNAT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
124007195

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002731531 – 663Heparan-alpha-glucosaminide N-acetyltransferaseAdd BLAST663

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi94N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi142N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi151 ↔ 462Curated
Glycosylationi162N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei243PhosphoserineCombined sources1
Modified residuei245PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme.
Glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q68CP4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q68CP4

PeptideAtlas

More...
PeptideAtlasi
Q68CP4

PRoteomics IDEntifications database

More...
PRIDEi
Q68CP4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66009
66010 [Q68CP4-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1307

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q68CP4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q68CP4

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q68CP4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165102 Expressed in 226 organ(s), highest expression level in mucosa of stomach

CleanEx database of gene expression profiles

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CleanExi
HS_HGSNAT

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q68CP4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q68CP4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029578

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer. Homooligomerization is necessary for enzyme activity.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126499, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q68CP4, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368965

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q68CP4

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni624 – 635Lysosomal targeting regionAdd BLAST12

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi4 – 64Ala-richAdd BLAST61

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4683 Eukaryota
COG4299 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001491

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000006803

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG081599

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q68CP4

KEGG Orthology (KO)

More...
KOi
K10532

Identification of Orthologs from Complete Genome Data

More...
OMAi
KHSSWNG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G042R

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q68CP4

TreeFam database of animal gene trees

More...
TreeFami
TF324790

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR012429 DUF1624
IPR040208 HGSNAT

The PANTHER Classification System

More...
PANTHERi
PTHR31061:SF19 PTHR31061:SF19, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07786 DUF1624, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative initiation. AlignAdd to basket
Note: Isoform 1 and isoform 2 are correctly targeted to the lysosomal compartment and are functional enzymes.

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q68CP4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTGARASAAE QRRAGRSGQA RAAERAAGMS GAGRALAALL LAASVLSAAL
60 70 80 90 100
LAPGGSSGRD AQAAPPRDLD KKRHAELKMD QALLLIHNEL LWTNLTVYWK
110 120 130 140 150
SECCYHCLFQ VLVNVPQSPK AGKPSAAAAS VSTQHGSILQ LNDTLEEKEV
160 170 180 190 200
CRLEYRFGEF GNYSLLVKNI HNGVSEIACD LAVNEDPVDS NLPVSIAFLI
210 220 230 240 250
GLAVIIVISF LRLLLSLDDF NNWISKAISS RETDRLINSE LGSPSRTDPL
260 270 280 290 300
DGDVQPATWR LSALPPRLRS VDTFRGIALI LMVFVNYGGG KYWYFKHASW
310 320 330 340 350
NGLTVADLVF PWFVFIMGSS IFLSMTSILQ RGCSKFRLLG KIAWRSFLLI
360 370 380 390 400
CIGIIIVNPN YCLGPLSWDK VRIPGVLQRL GVTYFVVAVL ELLFAKPVPE
410 420 430 440 450
HCASERSCLS LRDITSSWPQ WLLILVLEGL WLGLTFLLPV PGCPTGYLGP
460 470 480 490 500
GGIGDFGKYP NCTGGAAGYI DRLLLGDDHL YQHPSSAVLY HTEVAYDPEG
510 520 530 540 550
ILGTINSIVM AFLGVQAGKI LLYYKARTKD ILIRFTAWCC ILGLISVALT
560 570 580 590 600
KVSENEGFIP VNKNLWSLSY VTTLSSFAFF ILLVLYPVVD VKGLWTGTPF
610 620 630 640 650
FYPGMNSILV YVGHEVFENY FPFQWKLKDN QSHKEHLTQN IVATALWVLI
660
AYILYRKKIF WKI
Note: Intralysosomal proteolytic cleavage is faster and enzymatic activity higher than isoform 2.
Length:663
Mass (Da):73,293
Last modified:January 23, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB05648474A3587B5
GO
Isoform 2 (identifier: Q68CP4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:635
Mass (Da):70,496
Checksum:i177CDCFCF76CDB36
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RJN0E5RJN0_HUMAN
Heparan-alpha-glucosaminide N-acety...
HGSNAT
352Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RGH7E5RGH7_HUMAN
Heparan-alpha-glucosaminide N-acety...
HGSNAT
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJC4E5RJC4_HUMAN
Heparan-alpha-glucosaminide N-acety...
HGSNAT
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RH11E5RH11_HUMAN
Heparan-alpha-glucosaminide N-acety...
HGSNAT
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YAZ0H0YAZ0_HUMAN
Heparan-alpha-glucosaminide N-acety...
HGSNAT
253Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07581282A → V in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_063983104C → F in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; loss of intralysosomal proteolytic cleavage. 4 Publications1
Natural variantiVAR_075813141L → P in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_075814152R → W in RP73. 1 Publication1
Natural variantiVAR_075815161G → A in RP73. 1 Publication1
Natural variantiVAR_063984165L → P in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 5 Publications1
Natural variantiVAR_063985265P → Q Rare polymorphism; does not influence stability; does not influence activity; does not influence cellular localization of the enzyme. 7 Publications1
Natural variantiVAR_063986280I → R in MPS3C. 1 Publication1
Natural variantiVAR_063987290G → R in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_063988301N → K in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity. 2 Publications1
Natural variantiVAR_030083311P → L in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 4 Publications1
Natural variantiVAR_030084372R → C in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 4 Publications1
Natural variantiVAR_063989372R → H in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity. 2 Publications1
Natural variantiVAR_063990431W → C in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 4 Publications1
Natural variantiVAR_030085452G → S in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_075816452G → V in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_075817473L → P in MPS3C; shows practically no enzyme activity. 1 Publication1
Natural variantiVAR_030086499E → K in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 5 Publications1
Natural variantiVAR_063991509V → L Rare polymorphism; no loss of enzymatic activity. 3 Publications1
Natural variantiVAR_030087510M → K in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_063992514G → E in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_063993517A → E in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_063994546S → F in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 6 Publications1
Natural variantiVAR_063995551K → Q Rare polymorphism; no loss of enzymatic activity. 4 PublicationsCorresponds to variant dbSNP:rs73569592Ensembl.1
Natural variantiVAR_063996567S → C in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_030088569S → L in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity. 4 Publications1
Natural variantiVAR_030089590D → V in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity. 3 Publications1
Natural variantiVAR_030090599P → L in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity. 3 Publications1
Natural variantiVAR_063997643A → T in RP73 and MPS3C; unknown pathological significance; may act as a modifier of disease severity in patients with retinitis pigmentosa; has a negligible effect on the enzyme expression; moderately reduced enzyme activity. 5 PublicationsCorresponds to variant dbSNP:rs112029032Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0405041 – 28Missing in isoform 2. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK304441 mRNA Translation: BAG65262.1
AC113191 Genomic DNA No translation available.
CR749838 mRNA Translation: CAH18694.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS47852.1 [Q68CP4-2]

NCBI Reference Sequences

More...
RefSeqi
NP_689632.2, NM_152419.2 [Q68CP4-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.600384

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379644; ENSP00000368965; ENSG00000165102 [Q68CP4-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
138050

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:138050

UCSC genome browser

More...
UCSCi
uc003xpx.5 human [Q68CP4-1]

Keywords - Coding sequence diversityi

Alternative initiation

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK304441 mRNA Translation: BAG65262.1
AC113191 Genomic DNA No translation available.
CR749838 mRNA Translation: CAH18694.1
CCDSiCCDS47852.1 [Q68CP4-2]
RefSeqiNP_689632.2, NM_152419.2 [Q68CP4-2]
UniGeneiHs.600384

3D structure databases

ProteinModelPortaliQ68CP4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126499, 2 interactors
IntActiQ68CP4, 2 interactors
STRINGi9606.ENSP00000368965

Protein family/group databases

TCDBi9.B.169.4.1 the integral membrane protein (8 -10 tmss) yeib or duf418 (yeib) family

PTM databases

GlyConnecti1307
iPTMnetiQ68CP4
PhosphoSitePlusiQ68CP4
SwissPalmiQ68CP4

Polymorphism and mutation databases

BioMutaiHGSNAT
DMDMi124007195

Proteomic databases

MaxQBiQ68CP4
PaxDbiQ68CP4
PeptideAtlasiQ68CP4
PRIDEiQ68CP4
ProteomicsDBi66009
66010 [Q68CP4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379644; ENSP00000368965; ENSG00000165102 [Q68CP4-2]
GeneIDi138050
KEGGihsa:138050
UCSCiuc003xpx.5 human [Q68CP4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
138050
DisGeNETi138050
EuPathDBiHostDB:ENSG00000165102.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HGSNAT

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0007487
HGNCiHGNC:26527 HGSNAT
HPAiHPA029578
MalaCardsiHGSNAT
MIMi252930 phenotype
610453 gene
616544 phenotype
neXtProtiNX_Q68CP4
OpenTargetsiENSG00000165102
Orphaneti791 Retinitis pigmentosa
79271 Sanfilippo syndrome type C
PharmGKBiPA162390851

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4683 Eukaryota
COG4299 LUCA
GeneTreeiENSGT00390000001491
HOGENOMiHOG000006803
HOVERGENiHBG081599
InParanoidiQ68CP4
KOiK10532
OMAiKHSSWNG
OrthoDBiEOG091G042R
PhylomeDBiQ68CP4
TreeFamiTF324790

Enzyme and pathway databases

BRENDAi2.3.1.78 2681
ReactomeiR-HSA-2024096 HS-GAG degradation
R-HSA-2206291 MPS IIIC - Sanfilippo syndrome C
R-HSA-6798695 Neutrophil degranulation
SABIO-RKiQ68CP4

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
HGSNAT human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HGSNAT

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
138050

Protein Ontology

More...
PROi
PR:Q68CP4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165102 Expressed in 226 organ(s), highest expression level in mucosa of stomach
CleanExiHS_HGSNAT
ExpressionAtlasiQ68CP4 baseline and differential
GenevisibleiQ68CP4 HS

Family and domain databases

InterProiView protein in InterPro
IPR012429 DUF1624
IPR040208 HGSNAT
PANTHERiPTHR31061:SF19 PTHR31061:SF19, 1 hit
PfamiView protein in Pfam
PF07786 DUF1624, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHGNAT_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q68CP4
Secondary accession number(s): B4E2V0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 122 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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