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Standards Ontologies Notations
alpha-N-acetylgalactosaminidase

Summary
Gene Symbol
  • NAGA
Aliases
  • D22S674
  • alpha-galactosidase B
Organism
Homo sapiens (human)
External Links
NCBI Gene
4668
HGNC
7631
KEGG Gene ID
hsa:4668
PubChem
4668
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Epilepsy
  • Glycoprotein
  • Glycosidase
  • Lipid metabolism
  • Lysosome
  • Phosphoprotein
  • Reference proteome
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P17050
  • Alpha-galactosidase B
Annotation information from UniProt.
Gene Ontology (GO)
Displaying all 4 entries
GO Term Evidence Code PMID
glycoside catabolic process
oligosaccharide metabolic process
carbohydrate catabolic process
glycolipid catabolic process
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
Human Protein Atlas
ENSG00000198951

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
KEGG BRITE Database
Orthology
K01204
Name
alpha-N-acetylgalactosaminidase [EC:3.2.1.49]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05966
Rhea

RHEA:15085

an N-acetyl-α-D-galactosaminyl-(1→3)-[α-L-fucosyl-(1→2)]-β-D-galactosyl derivative + H2O
an α-L-fucosyl-(1→2)-β-D-galactosyl derivative + N-acetyl-D-galactosamine
Enzyme
PMID
Disease
Disease Ontology
Displaying entries 1 - 10 of 51 in total
DO ID Disease Name Source
DOID:0050635 alternating hemiplegia of childhood
DOID:0050700 cardiomyopathy
DOID:0050841 focal hand dystonia
DOID:0060262 gallbladder disease
DOID:0060357 chylomicron retention disease
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0080326 familial hypertrophic cardiomyopathy
DOID:0110735 neurodegeneration with brain iron accumulation 2a
DOID:0112318 Schindler disease type 1
DOID:0112319 Kanzaki disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 64 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000179 Thick lower lip vermilion
HP:0000214 Lip telangiectasia
HP:0000280 Coarse facial features
HP:0000360 Tinnitus
HP:0000365 Hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000486 Strabismus
HP:0000503 Tortuosity of conjunctival vessels
HP:0000518 Cataract
Displaying all 5 entries
Disease ID Disease Name
ORPHA:79281
  • alpha-N-acetylgalactosaminidase deficiency type 1
  • alpha-N-acetylgalactosaminidase deficiency type 3
OMIM:609241
  • alpha-N-acetylgalactosaminidase deficiency type 1
ORPHA:79279
  • alpha-N-acetylgalactosaminidase deficiency type 1
OMIM:609242
  • alpha-N-acetylgalactosaminidase deficiency type 2
ORPHA:79280
  • alpha-N-acetylgalactosaminidase deficiency type 2
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002748
Gene Name
N-acetylgalactosaminidase, alpha-
Ortholog
Displaying entries 1 - 10 of 95 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
179660 WB:WBGene00011095
34355 FB:FBgn0032192
36829 FB:FBgn0034117
100182270 CIOIN12149
102361487 LATCH02659
560778 ZFIN:ZDB-GENE-051113-256 DANRE35229
103026015 ASTMX15173
113578116 ELEEL21295
100195244 SALSA38301
106605016 SALSA125870
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024