Reactome | GAA (204-?) [lysosomal lumen]

GAA (204-?) [lysosomal lumen]

Stable Identifier

R-HSA-5357544

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

lysosomal lumen

Synonyms

70 kDa lysosomal alpha-glucosidase, acid maltase 70 kDa

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Literature References

PubMed ID	Title	Journal	Year
8420990	Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation Wisselaar, HA, Kroos, MA, Hermans, MM, van Beeumen, J, Reuser, AJ	J. Biol. Chem.	1993
3049072	Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex Hoefsloot, LH, Hoogeveen-Westerveld, M, Kroos, MA, van Beeumen, J, Reuser, AJ, Oostra, BA	EMBO J.	1988

External Reference Information

External Reference

UniProt:P10253 GAA

Gene Names

GAA

Chain

signal peptide:1-27, propeptide:28-69, chain:70-952, chain:123-952, chain:204-952

Reference Genes

BioGPS Gene:2548 GAA

COSMIC (genes):GAA GAA

CTD Gene:2548 GAA

dbSNP Gene:2548 GAA

ENSEMBL:ENSG00000171298 GAA

HGNC:4065 GAA

KEGG:hsa:2548 GAA

Monarch:2548 GAA

NCBI Gene:2548 GAA

OMIM:606800 GAA

UCSC:P10253 GAA

Reference Transcript

Other Identifiers

11716871_at

16838509

202812_PM_at

202812_at

2548

31816_at

3737141

3737142

3737143

3737144

3737145

3737146

3737147

3737148

3737149

3737150

3737151

3737152

3737153

3737154

3737155

3737156

3737157

3737159

3737160

3737161

3737162

3737163

3737164

3737166

3737167

3737168

3737169

3737170

3737171

3737172

3737174

3737175

8010354

83783_at

A_23_P153026

GE59804

GO:0000023

GO:0002026

GO:0002086

GO:0003007

GO:0003012

GO:0003016

GO:0003824

GO:0004553

GO:0004558

GO:0005576

GO:0005764

GO:0005765

GO:0005886

GO:0005975

GO:0005977

GO:0005980

GO:0005984

GO:0005985

GO:0006006

GO:0006941

GO:0007040

GO:0007626

GO:0009888

GO:0016020

GO:0016787

GO:0016798

GO:0030246

GO:0035577

GO:0035904

GO:0043181

GO:0043202

GO:0046716

GO:0048856

GO:0050877

GO:0050884

GO:0050885

GO:0060048

GO:0061723

GO:0070062

GO:0070821

GO:0090599

GO:0101003

GO:0120282

HMNXSV003034469

ILMN_1765801

ILMN_2410783

PH_hs_0000195

TC17000915.hg

X55079_rna1_at

g11496988_3p_at

Participates

as a member of

GAA (70, 76 kDa) [lysosomal lumen] (Homo sapiens)

Other forms of this molecule

GAA (123-?) [lysosomal lumen]

GAA [ficolin-1-rich granule membrane]

GAA [plasma membrane]

GAA [azurophil granule membrane]

GAA [tertiary granule membrane]

GAA M318T [lysosomal lumen]

GAA E521K [lysosomal lumen]

Inferred To

Homologues of GAA (204-?) [lysosomal lumen] (Schizosaccharomyces pombe)

GAA (204-?) [lysosomal lumen] (Schizosaccharomyces pombe)

Gaa [lysosomal lumen] (Mus musculus)

Gaa [lysosomal lumen] (Rattus norvegicus)

agl1 [lysosomal lumen] (Schizosaccharomyces pombe)

GAA [lysosomal lumen] (Bos taurus)

GAA [lysosomal lumen] (Canis familiaris)

GAA [lysosomal lumen] (Gallus gallus)

GAA [lysosomal lumen] (Sus scrofa)

Cross References

RefSeq

NP_001073271.1, NP_001073272.1, NP_000143.2, XP_054189174.1, NP_001393670.1, NP_001393671.1, XP_047291675.1, XP_005257250.1, XP_005257251.1

ZINC - World Drugs

LYAG_HUMAN

Guide to Pharmacology - Targets

2611

OpenTargets

ENSG00000171298

ENSEMBL

ENST00000302262, ENSG00000291507, ENSP00000516982, ENSP00000519347, ENSP00000516980, ENSP00000460543, ENSP00000305692, ENST00000714058, ENST00000714057, ENSP00000519348, ENST00000570803, ENSG00000171298, ENST00000390015, ENST00000707781, ENSP00000458306, ENSP00000374665, ENST00000577106, ENST00000707779

ZINC - FDA approved

LYAG_HUMAN

ZINC - Substances

LYAG_HUMAN

ZINC - Biogenic

LYAG_HUMAN

ZINC target

P10253

PRO

P10253

GlyGen

P10253

PDB

5NN8, 5KZW, 5NN6, 5NN5, 5NN3, 5NN4, 7P2Z, 7P32, 5KZX

ZINC - Metabolites

LYAG_HUMAN

IntEnz

3.2.1.20

HPA

ENSG00000171298-GAA

GeneCards

GAA

Pharos - Targets

P10253

Orphanet

GAA

ZINC - Predictions - Purchasable

LYAG_HUMAN

HMDB Protein

HMDBP01817

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q15800 MSMO1	1	MSMO1 [endoplasmic reticulum membrane] (R-HSA-194648)	0.527	2
UniProt:Q9UBV7 B4GALT7	4	B4GALT7 A186D [Golgi membrane] (R-HSA-3621785) B4GALT7 L206P [Golgi membrane] (R-HSA-3621790) B4GALT7 R270C [Golgi membrane] (R-HSA-3621734) B4GALT7 [Golgi membrane] (R-HSA-1889950)	0.527	2
UniProt:Q8NBL1 POGLUT1	1	POGLUT1 [endoplasmic reticulum lumen] (R-HSA-1464796)	0.527	2
UniProt:Q86XF0 DHFR2	1	DHFR2 [cytosol] (R-HSA-2975816)	0.527	2
UniProt:P98160 HSPG2	20	HSPG2(22-4196) [extracellular region] (R-HSA-3827968) HSPG2(4197-4391) [extracellular region] (R-HSA-3827980) HS(4)-HSPG2 [plasma membrane] (R-HSA-2076698) HS(6)-HSPG2 [plasma membrane] (R-HSA-2076681) HS(2)-HSPG2 [plasma membrane] (R-HSA-2076659) HS(1)-HSPG2 [plasma membrane] (R-HSA-2076680) HS(3)-HSPG2 [plasma membrane] (R-HSA-2076627) HS(5)-HSPG2 [plasma membrane] (R-HSA-2076679) HSPG2(3687-4391) [extracellular region] (R-HSA-4088241) Gal-Xyl-HSPG2 [Golgi lumen] (R-HSA-2064209) Gal-Gal-Xyl-HSPG2 [Golgi lumen] (R-HSA-2063971) XylS-HSPG2(22-4391) [Golgi lumen] (R-HSA-2063972) HSPG2(22-4391) [Golgi lumen] (R-HSA-2054109) GlcA-Gal-Gal-Xyl-HSPG2 [Golgi lumen] (R-HSA-2064023) HS(5)-HSPG2 [Golgi lumen] (R-HSA-2076323) HS(6)-HSPG2 [Golgi lumen] (R-HSA-2076552) HS(4)-HSPG2 [Golgi lumen] (R-HSA-2076495) HS(3)-HSPG2 [Golgi lumen] (R-HSA-2076384) HS(2)-HSPG2 [Golgi lumen] (R-HSA-2076426) HS(1)-HSPG2 [Golgi lumen] (R-HSA-2076366)	0.527	2
UniProt:P27824 CANX	3	CANX [endoplasmic reticulum lumen] (R-HSA-195906) CANX [lumenal side of endoplasmic reticulum membrane] (R-HSA-983091) CANX [endoplasmic reticulum membrane] (R-HSA-9932989)	0.527	2

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