Tissue expression of GALNS - Summary - The Human Protein Atlas

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GALNS

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	GALNS
Gene description	Galactosamine (N-acetyl)-6-sulfatase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
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

Granular cytoplasmic expression.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 1 antibody. CAB026404
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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	GALNS (HGNC Symbol)
Synonyms	GALNAC6S, GAS
Description	Galactosamine (N-acetyl)-6-sulfatase (HGNC Symbol)
Entrez gene summary	This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
Chromosome	16
Cytoband	q24.3
Chromosome location (bp)	88813734 - 88856970
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000141012 (version 83.38)
Entrez gene	2588
UniProt	P34059 (UniProt - Evidence at protein level)
neXtProt	NX_P34059
Antibodypedia	GALNS antibodies

PROTEIN BROWSER

GALNS-001	GALNS-002	GALNS-008	GALNS-009

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GALNS-001 ENSP00000268695 ENST00000268695	P34059 [Direct mapping] N-acetylgalactosamine-6-sulfatase 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:0003943 [N-acetylgalactosamine-4-sulfatase activity] GO:0005975 [carbohydrate metabolic process] GO:0008152 [metabolic process] GO:0008484 [sulfuric ester hydrolase activity] GO:0030203 [glycosaminoglycan metabolic process] GO:0042339 [keratan sulfate metabolic process] GO:0042340 [keratan sulfate catabolic process] GO:0043202 [lysosomal lumen] GO:0043890 [N-acetylgalactosamine-6-sulfatase activity] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0070062 [extracellular exosome] Show all	522 aa 58 kDa	Yes	0
GALNS-002 ENSP00000455006 ENST00000568311	H3BNU2 [Direct mapping] N-acetylgalactosamine-6-sulfatase Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins 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		116 aa 12.3 kDa	Yes	0
GALNS-008 ENSP00000456884 ENST00000569433	H3BSU9 [Direct mapping] N-acetylgalactosamine-6-sulfatase 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		78 aa 8.2 kDa	Yes	0
GALNS-009 ENSP00000455174 ENST00000562831	H3BP66 [Direct mapping] N-acetylgalactosamine-6-sulfatase 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	170 aa 19.4 kDa	No	0

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The Project

The Human Protein Atlas

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