galactosamine (N-acetyl)-6-sulfatase

Summary
Gene Symbol
  • GALNS
Aliases
  • GALNAC6S
  • GAS
  • GalN6S
  • Morquio syndrome
  • N-acetylgalactosamine-6-sulfatase
  • chondroitinase
  • chondroitinsulfatase
  • galactose-6-sulfate sulfatase
  • mucopolysaccharidosis type IVA
Organism
Homo sapiens (human)
External Links
NCBI Gene
2588
HGNC
4122
KEGG Gene ID
hsa:2588
PubChem
2588
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Calcium
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Glycoprotein
  • Hydrolase
  • Lysosome
  • Metal-binding
  • Mucopolysaccharidosis
  • Reference proteome
  • Signal
Proteins
Displaying all 3 entries
UniProt Protein Name
Q96I49
P34059
  • Chondroitinsulfatase
  • Galactose-6-sulfate sulfatase
  • N-acetylgalactosamine-6-sulfate sulfatase
Q6YL38
Gene Ontology (GO)
Human Protein Atlas
ENSG00000141012

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.

KEGG BRITE Database
Orthology
K01132
Name
N-acetylgalactosamine-6-sulfatase [EC:3.1.6.4]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R07806
Disease
Disease Ontology
Displaying entries 1 - 10 of 120 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0040085 bacterial sepsis
DOID:0060249 scoliosis
DOID:0060320 inguinal hernia
DOID:0060350 adenine phosphoribosyltransferase deficiency
DOID:0060891 Parkinson's disease 19A
DOID:0060895 Parkinson's disease 4
DOID:0060896 Parkinson's disease 23
DOID:0080199 colorectal carcinoma
DOID:0080348 Alzheimer's disease 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 47 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000154 Wide mouth
HP:0000280 Coarse facial features
HP:0000303 Mandibular prognathia
HP:0000365 Hearing impairment
HP:0000470 Short neck
HP:0000670 Carious teeth
HP:0000683 Grayish enamel
HP:0000687 Widely spaced teeth
Displaying 1 entry
Disease ID Disease Name
OMIM:253000
  • mucopolysaccharidosis type 4A

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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