Tissue expression of SGSH - Summary - The Human Protein Atlas

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SGSH

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TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	SGSH
Gene description	N-sulfoglucosamine sulfohydrolase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	6
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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

Granular cytoplasmic expression in several cell types.

DATA RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 2 antibodies. HPA023436 , HPA023451
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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	SGSH (HGNC Symbol)
Synonyms	HSS, MPS3A, SFMD
Description	N-sulfoglucosamine sulfohydrolase (HGNC Symbol)
Entrez gene summary	This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Chromosome	17
Cytoband	q25.3
Chromosome location (bp)	80206716 - 80220923
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000181523 (version 83.38)
Entrez gene	6448
UniProt	P51688 (UniProt - Evidence at protein level)
neXtProt	NX_P51688
Antibodypedia	SGSH antibodies

PROTEIN BROWSER

SGSH-001	SGSH-004	SGSH-005	SGSH-012	SGSH-015	SGSH-017

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SGSH-001 ENSP00000314606 ENST00000326317	P51688 [Direct mapping] N-sulphoglucosamine sulphohydrolase Show all	Enzymes ENZYME proteins Hydrolases Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0005515 [protein binding] GO:0005975 [carbohydrate metabolic process] GO:0006027 [glycosaminoglycan catabolic process] GO:0006029 [proteoglycan metabolic process] GO:0008152 [metabolic process] GO:0008484 [sulfuric ester hydrolase activity] GO:0016250 [N-sulfoglucosamine sulfohydrolase activity] GO:0030203 [glycosaminoglycan metabolic process] GO:0043202 [lysosomal lumen] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0070062 [extracellular exosome] Show all	502 aa 56.7 kDa	Yes	0
SGSH-004 ENSP00000458200 ENST00000570923	I3L0M2 [Direct mapping] N-sulphoglucosamine sulphohydrolase Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		274 aa 29 kDa	Yes	0
SGSH-005 ENSP00000461128 ENST00000576707	I3L4B7 [Direct mapping] N-sulphoglucosamine sulphohydrolase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0008152 [metabolic process] GO:0008484 [sulfuric ester hydrolase activity] Show all	110 aa 12.7 kDa	No	0
SGSH-012 ENSP00000460720 ENST00000576856	I3L3T3 [Direct mapping] N-sulphoglucosamine sulphohydrolase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0008152 [metabolic process] Show all	67 aa 7.4 kDa	No	0
SGSH-015 ENSP00000461827 ENST00000572257	I3NI22 [Direct mapping] N-sulphoglucosamine sulphohydrolase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0008152 [metabolic process] GO:0008484 [sulfuric ester hydrolase activity] Show all	194 aa 21.6 kDa	No	0
SGSH-017 ENSP00000459765 ENST00000570427	I3L2L4 [Direct mapping] N-sulphoglucosamine sulphohydrolase Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0008152 [metabolic process] GO:0008484 [sulfuric ester hydrolase activity] Show all	188 aa 20.7 kDa	Yes	0

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The Project

The Human Protein Atlas

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