HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)

2014-08-01  

Identity

HGNC
HGSNAT
LOCATION
8p11.21
LOCUSID
138050
ALIAS
HGNAT,MPS3C,RP73,TMEM76
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 138050
MIM: 610453
HGNC: 26527
Ensembl: ENSG00000165102

Variants:

dbSNP: 138050
ClinVar: 138050
TCGA: ENSG00000165102
COSMIC: HGSNAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165102ENST00000379644Q68CP4
ENSG00000165102ENST00000517319E5RH11
ENSG00000165102ENST00000520704E5RJC4
ENSG00000165102ENST00000521576E5RJN0
ENSG00000165102ENST00000522082E5RGH7
ENSG00000165102ENST00000524016H0YAZ0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Heparan sulfate degradationKEGGhsa_M00078
Heparan sulfate degradationKEGGM00078
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375928062024Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.0
386133422024Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).1
375928062024Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.0
386133422024Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).1
370145262023Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.0
370145262023Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.0
323471502020Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.1
327706432020A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.0
323471502020Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.1
327706432020A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.0
312282272019Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.11
312282272019Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.11
278273792017Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).0
278273792017Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).0
274521222016HGSNAT has a TATA-less promoter with multiple starts of transcription.0

Citation

Dessen P

HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54360