Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000108784 Gene ID 4669 Accession 7632
Symbol NAGLU Alias NAG;CMT2V;MPS3B;UFHSD;MPS-IIIB Full Name N-acetyl-alpha-glucosaminidase
Status Confidence Length 8209 bases Strand Plus strand
Position 17 : 42536241 - 42544449 RNA binding domain N.A.
Summary This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
NAGLU-201 ENST00000225927 2475 743aa ENSP00000225927
NAGLU-202 ENST00000586516 510 170aa ENSP00000467135
NAGLU-204 ENST00000591587 1493 122aa ENSP00000467836
NAGLU-203 ENST00000590358 634 81aa ENSP00000466892
NAGLU-205 ENST00000592454 582 65aa ENSP00000468665

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
97597Blood Pressure1E-627980656

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0001573involved_in ganglioside metabolic process1IEAHomo_sapiens(9606)Process
GO:0001774involved_in microglial cell activation1IEAHomo_sapiens(9606)Process
GO:0001889involved_in liver development1IEAHomo_sapiens(9606)Process
GO:0003158involved_in endothelium development1IEAHomo_sapiens(9606)Process
GO:0003183involved_in mitral valve morphogenesis1IEAHomo_sapiens(9606)Process
GO:0003220involved_in left ventricular cardiac muscle tissue morphogenesis1IEAHomo_sapiens(9606)Process
GO:0004561enables alpha-N-acetylglucosaminidase activity1TASHomo_sapiens(9606)Function
GO:0005764located_in lysosome1TASHomo_sapiens(9606)Component
GO:0006801involved_in superoxide metabolic process1IEAHomo_sapiens(9606)Process
GO:0006914involved_in autophagy1IEAHomo_sapiens(9606)Process
GO:0007028involved_in cytoplasm organization1IEAHomo_sapiens(9606)Process
GO:0007030involved_in Golgi organization1IEAHomo_sapiens(9606)Process
GO:0007040involved_in lysosome organization1IEAHomo_sapiens(9606)Process
GO:0007399involved_in nervous system development1TASHomo_sapiens(9606)Process
GO:0008340involved_in determination of adult lifespan1IEAHomo_sapiens(9606)Process
GO:0009611involved_in response to wounding1IEAHomo_sapiens(9606)Process
GO:0014004involved_in microglia differentiation1IEAHomo_sapiens(9606)Process
GO:0016485involved_in protein processing1IEAHomo_sapiens(9606)Process
GO:0018158involved_in protein oxidation1IEAHomo_sapiens(9606)Process
GO:0021675involved_in nerve development1IEAHomo_sapiens(9606)Process
GO:0021680involved_in cerebellar Purkinje cell layer development1IEAHomo_sapiens(9606)Process
GO:0030200involved_in heparan sulfate proteoglycan catabolic process1TASHomo_sapiens(9606)Process
GO:0030201involved_in heparan sulfate proteoglycan metabolic process1IEAHomo_sapiens(9606)Process
GO:0030202involved_in heparin metabolic process1IEAHomo_sapiens(9606)Process
GO:0030534involved_in adult behavior1IEAHomo_sapiens(9606)Process
GO:0031069involved_in hair follicle morphogenesis1IEAHomo_sapiens(9606)Process
GO:0032496involved_in response to lipopolysaccharide1IEAHomo_sapiens(9606)Process
GO:0032963involved_in collagen metabolic process1IEAHomo_sapiens(9606)Process
GO:0034142involved_in toll-like receptor 4 signaling pathway1IEAHomo_sapiens(9606)Process
GO:0034285involved_in response to disaccharide1IEAHomo_sapiens(9606)Process
GO:0034599involved_in cellular response to oxidative stress1IEAHomo_sapiens(9606)Process
GO:0035633involved_in maintenance of blood-brain barrier1IEAHomo_sapiens(9606)Process
GO:0035640involved_in exploration behavior1IEAHomo_sapiens(9606)Process
GO:0035909involved_in aorta morphogenesis1IEAHomo_sapiens(9606)Process
GO:0042445involved_in hormone metabolic process1IEAHomo_sapiens(9606)Process
GO:0042474involved_in middle ear morphogenesis1IEAHomo_sapiens(9606)Process
GO:0042982involved_in amyloid precursor protein metabolic process1IEAHomo_sapiens(9606)Process
GO:0043161involved_in proteasome-mediated ubiquitin-dependent protein catabolic process1IEAHomo_sapiens(9606)Process
GO:0043202located_in lysosomal lumen1TASHomo_sapiens(9606)Component
GO:0044242involved_in cellular lipid catabolic process1IEAHomo_sapiens(9606)Process
GO:0045475involved_in locomotor rhythm1IEAHomo_sapiens(9606)Process
GO:0046548involved_in retinal rod cell development1IEAHomo_sapiens(9606)Process
GO:0048143involved_in astrocyte activation1IEAHomo_sapiens(9606)Process
GO:0055013involved_in cardiac muscle cell development1IEAHomo_sapiens(9606)Process
GO:0060119involved_in inner ear receptor cell development1IEAHomo_sapiens(9606)Process
GO:0060173involved_in limb development1IEAHomo_sapiens(9606)Process
GO:0060586involved_in multicellular organismal-level iron ion homeostasis1IEAHomo_sapiens(9606)Process
GO:0061744involved_in motor behavior1IEAHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome2HDA,IDAHomo_sapiens(9606)Component
GO:0071407involved_in cellular response to organic cyclic compound1IEAHomo_sapiens(9606)Process
GO:0097577involved_in sequestering of iron ion1IEAHomo_sapiens(9606)Process
GO:0097696involved_in receptor signaling pathway via STAT1IEAHomo_sapiens(9606)Process
GO:0099022involved_in vesicle tethering1IEAHomo_sapiens(9606)Process
GO:1904389involved_in rod bipolar cell differentiation1IEAHomo_sapiens(9606)Process
GO:1904390involved_in cone retinal bipolar cell differentiation1IEAHomo_sapiens(9606)Process

Expression