Entity Details

Primary name ANAG_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP54802
EntryNameANAG_HUMAN
FullNameAlpha-N-acetylglucosaminidase
TaxID9606
Evidenceevidence at protein level
Length743
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesNAGLU

GO terms

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GOName
GO:0004561 alpha-N-acetylglucosaminidase activity
GO:0005764 lysosome
GO:0006027 glycosaminoglycan catabolic process
GO:0007040 lysosome organization
GO:0007399 nervous system development
GO:0021680 cerebellar Purkinje cell layer development
GO:0042474 middle ear morphogenesis
GO:0043202 lysosomal lumen
GO:0045475 locomotor rhythm
GO:0046548 retinal rod cell development
GO:0060119 inner ear receptor cell development
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Lysosome

Domains

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DomainNameCategoryType
IPR007781 Alpha-N-acetylglucosaminidaseFamilyFamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR024240 Alpha-N-acetylglucosaminidase, N-terminalDomainDomain
IPR024732 Alpha-N-acetylglucosaminidase, C-terminalDomainDomain
IPR024733 Alpha-N-acetylglucosaminidase, tim-barrel domainDomainDomain
IPR029018 Beta-hexosaminidase-like, domain 2FamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
252920 OMIMMucopolysaccharidosis 3B (MPS3B)A 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. The disease is caused by variants affecting the gene represented in this entry.
616491 OMIMCharcot-Marie-Tooth disease 2V (CMT2V)An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00141 N-AcetylglucosamineDrugbanksmall molecule
DB06773 Human calcitoninDrugbankbiotech

Interactions

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