GALNS

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 1 antibody.
CAB026404
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RNA AND PROTEIN EXPRESSION SUMMARY

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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



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2588

UniProt

P34059 (UniProt - Evidence at protein level)

neXtProt

NX_P34059

Antibodypedia

GALNS antibodies


PROTEIN BROWSER

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ENST00000268695
 
ENST00000562831
 
ENST00000568311
 
ENST00000569433
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GALNS-001 ENSP00000268695
ENST00000268695
P34059
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Show » Show » 522 58 Yes 0
GALNS-002 ENSP00000455006
ENST00000568311
H3BNU2
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Show » 116 12.3 Yes 0
GALNS-008 ENSP00000456884
ENST00000569433
H3BSU9
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Show » 78 8.2 Yes 0
GALNS-009 ENSP00000455174
ENST00000562831
H3BP66
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Show » Show » 170 19.4 No 0