Reactome | OxA-GALNS [lysosomal lumen]

OxA-GALNS [lysosomal lumen]

Stable Identifier

R-HSA-1630321

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

lysosomal lumen

Synonyms

GALNS, N-acetylgalactosamine-6-sulfatase, GALNS_HUMAN

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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

ENSEMBL:ENSG00000141012.13 GALNS

HGNC:4122 GALNS

KEGG Gene (Homo sapiens):2588 GALNS

Monarch:2588 GALNS

NCBI Gene:2588 GALNS

OMIM:612222 GALNS

UCSC:P34059 GALNS

Reference Transcript

RefSeq:NM_000512.4 GALNS

Other Identifiers

11720379_s_at

11749556_a_at

16829242

206335_PM_at

206335_at

2588

32100_r_at

3704512

3704514

3704515

3704521

3704522

3704525

3704526

3704528

3704529

3704530

3704531

3704532

3704533

3704538

3704539

3704541

3704553

3704554

3704555

8003410

A_23_P106562

GE62635

GO:0003824

GO:0003943

GO:0004065

GO:0005576

GO:0005615

GO:0005764

GO:0005773

GO:0008484

GO:0016787

GO:0031410

GO:0035578

GO:0043202

GO:0043226

GO:0043890

GO:0046872

GO:0070062

GO:0110165

HMNXSV003001598

ILMN_1737949

PH_hs_0009707

TC16001345.hg

U06088_at

g9945384_3p_at

Participates

as a repeated unit of

GALNS oligomer [lysosomal lumen] (Homo sapiens)

Other forms of this molecule

GALNS G301C [lysosomal lumen]

GALNS R386C [lysosomal lumen]

GALNS I113F [lysosomal lumen]

OxA-GALNS [extracellular region]

OxA-GALNS [azurophil granule lumen]

Inferred To

zgc:158385 [lysosomal lumen] (Danio rerio)

GALNS [lysosomal lumen] (Bos taurus)

GALNS [lysosomal lumen] (Gallus gallus)

galns [lysosomal lumen] (Xenopus tropicalis)

OxA-GALNS [lysosomal lumen] (Canis familiaris)

OxA-GALNS [lysosomal lumen] (Mus musculus)

OxA-GALNS [lysosomal lumen] (Rattus norvegicus)

OxA-GALNS [lysosomal lumen] (Sus scrofa)

Modified Residues

Name

L-3-oxoalanine (Ser) at 79

Coordinate

PsiMod Name

L-3-oxoalanine (Ser)

PsiMod Definition

A protein modification that effectively converts an L-serine residue to L-oxoalanine.

Cross References

RefSeq

NP_000503.1

Guide to Pharmacology - Targets

2765

OpenTargets

ENSG00000141012

GeneCards

P34059

HPA

ENSG00000141012-GALNS

Ensembl

ENST00000268695, ENSG00000141012, ENSP00000268695

PRO

P34059

Pharos - Targets

P34059

Orphanet

16095

HMDB Protein

HMDBP02166

PDB

4FDI, 4FDJ

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