Reactome | GALNS G301C [lysosomal lumen]

GALNS G301C [lysosomal lumen]

Stable Identifier

R-HSA-2245324

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

lysosomal lumen

Synonyms

N-acetylgalactosamine-6-sulfatase, GALNS_HUMAN, p.Gly301Cys GALNS

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External Reference Information

External Reference

UniProt:P34059 GALNS

Gene Names

GALNS

Chain

signal peptide:1-26, chain:27-522

Reference Genes

BioGPS Gene:2588 GALNS

COSMIC (genes):GALNS GALNS

CTD Gene:2588 GALNS

dbSNP Gene:2588 GALNS

ENSEMBL:ENSG00000141012 GALNS

HGNC:4122 GALNS

KEGG:hsa:2588 GALNS

Monarch:2588 GALNS

NCBI Gene:2588 GALNS

OMIM:612222 GALNS

UCSC:P34059 GALNS

Reference Transcript

RefSeq:NM_000512.5 GALNS

Other Identifiers

11720379_s_at

11749556_a_at

16829242

206335_PM_at

206335_at

236866_PM_at

236866_at

2588

32100_r_at

3704512

3704514

3704515

3704521

3704522

3704524

3704525

3704526

3704528

3704529

3704530

3704531

3704532

3704533

3704534

3704535

3704536

3704537

3704538

3704539

3704540

3704541

3704542

3704548

3704549

3704550

3704551

3704552

3704553

3704554

3704555

48903_at

8003410

A_23_P106562

GE62635

GO:0003824

GO:0003943

GO:0004065

GO:0005576

GO:0005764

GO:0005773

GO:0008484

GO:0016787

GO:0035578

GO:0043202

GO:0043226

GO:0043890

GO:0046872

GO:0070062

HMNXSV003001598

Hs.93834.0.A1_3p_at

ILMN_1737949

PH_hs_0009707

TC16001345.hg

U06088_at

g9945384_3p_at

Participates

as a member of

GALNS mutants [lysosomal lumen] (Homo sapiens)

Other forms of this molecule

GALNS R386C [lysosomal lumen]

GALNS I113F [lysosomal lumen]

OxA-GALNS [extracellular region]

OxA-GALNS [azurophil granule lumen]

OxA-GALNS [lysosomal lumen]

Modified Residues

Name

glycine 301 replaced with L-cysteine

Coordinate

301

PsiMod

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

L-cysteine residue [MOD:00014]

A protein modification that effectively converts a source amino acid residue to an L-cysteine.

Disease

Name	Identifier	Synonyms
mucopolysaccharidosis IV	DOID:12804	mucopolysaccharidosis type IVA, Osteochondrodystrophy, deficiency of N-acetylgalactosamine-6-sulphatase, chondroosteodystrophy, Osteochondrodystrophy, Morquio syndrome A, MORQUIO A DISEASE, Mucopolysaccharidosis, MPS-IV-A (disorder), Mucopolysaccharidosis, MPS-IV, deficiency of chondroitinsulphatase, GALACTOSAMINE-6-SULFATASE DEFICIENCY

Cross References

RefSeq

NP_000503.1

Guide to Pharmacology - Targets

2765

ENSEMBL

ENSG00000141012, ENST00000268695, ENSP00000268695

OpenTargets

ENSG00000141012

GeneCards

GALNS

HPA

ENSG00000141012-GALNS

PRO

P34059

Pharos - Targets

P34059

Orphanet

GALNS

HMDB Protein

HMDBP02166

PDB

4FDI, 4FDJ

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8NBK3 SUMF1	1	SUMF1 [endoplasmic reticulum lumen] (R-HSA-1614316)	0.527	3
UniProt:Q03405 PLAUR	7	GPI-PLAUR [specific granule membrane] (R-HSA-6806143) PLAUR [plasma membrane] (R-HSA-6806165) GPI-PLAUR [plasma membrane] (R-HSA-158946) PLAUR(23-335) [endoplasmic reticulum membrane] (R-HSA-162866) PLAUR(306-335) [endoplasmic reticulum lumen] (R-HSA-162707) GPI-PLAUR [endoplasmic reticulum membrane] (R-HSA-162687) PLAUR [endoplasmic reticulum membrane] (R-HSA-162703)	0.527	3