Tissue expression of HGSNAT - Summary - The Human Protein Atlas

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HGSNAT

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Ubiquitous cytoplasmic expression, often with a granular pattern.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data. Pending external verification.
Reliability score	Approved based on 1 antibody. HPA029578
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	HGSNAT (HGNC Symbol)
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 83.38)
Entrez gene	138050
UniProt	Q68CP4 (UniProt - Evidence at protein level)
neXtProt	NX_Q68CP4
Antibodypedia	HGSNAT antibodies

PROTEIN BROWSER

HGSNAT-001	HGSNAT-003	HGSNAT-006	HGSNAT-009

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HGSNAT-001 ENSP00000368965 ENST00000379644	Q68CP4 [Direct mapping] Heparan-alpha-glucosaminide N-acetyltransferase Show all	Enzymes ENZYME proteins Transferases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005765 [lysosomal membrane] GO:0005975 [carbohydrate metabolic process] GO:0006027 [glycosaminoglycan catabolic process] GO:0007041 [lysosomal transport] GO:0015019 [heparan-alpha-glucosaminide N-acetyltransferase activity] GO:0016021 [integral component of membrane] GO:0016746 [transferase activity, transferring acyl groups] GO:0030203 [glycosaminoglycan metabolic process] GO:0044281 [small molecule metabolic process] GO:0051259 [protein oligomerization] Show all	635 aa 70.5 kDa	Yes	>9
HGSNAT-003 ENSP00000429029 ENST00000521576	E5RJN0 [Direct mapping] Heparan-alpha-glucosaminide N-acetyltransferase Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 6TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	352 aa 38.9 kDa	No	6
HGSNAT-006 ENSP00000430151 ENST00000522082	E5RGH7 [Direct mapping] Heparan-alpha-glucosaminide N-acetyltransferase Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	184 aa 20 kDa	No	3
HGSNAT-009 ENSP00000428322 ENST00000524016	H0YAZ0 [Direct mapping] Heparan-alpha-glucosaminide N-acetyltransferase Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all		253 aa 27.9 kDa	No	3

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.