HGSNAT

GENERAL INFORMATION

? »

Gene name

HGSNAT

Gene description

Heparan-alpha-glucosaminide N-acetyltransferase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression, often with a granular pattern.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining mainly consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA029578
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

HGSNAT (DataBase of Aberrant 5' Splice Sites)

Synonyms

FLJ32731, HGNAT, TMEM76

Description

Heparan-alpha-glucosaminide N-acetyltransferase (HGNC Symbol)

Entrez gene summary

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]

Chromosome

8

Cytoband

Chromosome location (bp)

43140455 - 43202855

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165102 (version 78.38)

Entrez gene

138050

UniProt

Q68CP4 (UniProt - Evidence at protein level)

neXtProt

NX_Q68CP4

Antibodypedia

HGSNAT antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000379644
 
ENST00000521576
 
ENST00000522082
 
ENST00000524016
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HGSNAT-001 ENSP00000368965
ENST00000379644
Q68CP4
Show all »
Show » Show » 635 70.5 Yes >9
HGSNAT-003 ENSP00000429029
ENST00000521576
E5RJN0
Show all »
Show » 352 38.9 No 6
HGSNAT-006 ENSP00000430151
ENST00000522082
E5RGH7
Show all »
Show » 184 20 No 3
HGSNAT-009 ENSP00000428322
ENST00000524016
Show » 253 27.9 No 3