Reactome | ALG8 T138Kfs*19 [endoplasmic reticulum membrane]

ALG8 T138Kfs*19 [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4724312

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase, ALG8_HUMAN

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External Reference Information

External Reference

UniProt:Q9BVK2 ALG8

Gene Names

ALG8, HUSSY-02

Chain

chain:1-526

Reference Genes

BioGPS Gene:79053 ALG8

COSMIC (genes):ALG8 ALG8

CTD Gene:79053 ALG8

dbSNP Gene:79053 ALG8

ENSEMBL:ENSG00000159063 ALG8

ENSEMBL:ENSG00000159063.14 ALG8

HGNC:23161 ALG8

KEGG Gene (Homo sapiens):79053 ALG8

Monarch:79053 ALG8

NCBI Gene:79053 ALG8

OMIM:608103 ALG8

UCSC:Q9BVK2 ALG8

Reference Transcript

Other Identifiers

11732176_a_at

16742610

203545_PM_at

203545_at

32051_at

3383167

3383168

3383169

3383170

3383171

3383172

3383175

3383177

3383181

3383183

3383184

3383185

3383186

3383188

3383190

3383191

3383197

3383198

3383199

61092_at

79053

7950654

A_23_P13554

GE55254

GO:0000033

GO:0003824

GO:0004583

GO:0005515

GO:0005783

GO:0005789

GO:0006486

GO:0006487

GO:0006488

GO:0006490

GO:0006629

GO:0016020

GO:0016740

GO:0016757

GO:0016758

GO:0018279

GO:0036211

GO:0042283

GO:0043226

GO:1901135

HMNXSV003040712

ILMN_1685413

ILMN_2271014

PH_hs_0025774

PH_hs_0036017

TC11002133.hg

g13129069_3p_at

Participates

as a member of

ALG8 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

ALG8 G275D [endoplasmic reticulum membrane]

ALG8 T47P [endoplasmic reticulum membrane]

ALG8 V133Sfs*3 [endoplasmic reticulum membrane]

ALG8 [endoplasmic reticulum membrane]

Modified Residues

Name

Replacement of residues 138 to 155 by KKSQNLFCRYYFCGTSGY

Disease

Name	Identifier	Synonyms
congenital disorder of glycosylation type I	DOID:0050570

Cross References

RefSeq

NP_001007028.1, NP_076984.2

OpenTargets

ENSG00000159063

GeneCards

Q9BVK2

HPA

ENSG00000159063-ALG8

Ensembl

ENST00000376156, ENST00000299626, ENSP00000299626, ENSP00000365326, ENSG00000159063

PRO

Q9BVK2

Pharos - Targets

Q9BVK2

Orphanet

15499

HMDB Protein

HMDBP03064

Interactors (10)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q5JX71 F209A			0.556	3
UniProt:P00387 CYB5R3	3	MyrG-CYB5R3(2-301) [mitochondrial outer membrane] (R-HSA-198771) CYB5R3(27-301) [extracellular region] (R-HSA-6806205) CYB5R3(27-301) [azurophil granule lumen] (R-HSA-6799217)	0.556	3
UniProt:Q8TED1 GPX8	1	GPX8 [endoplasmic reticulum lumen] (R-HSA-3341303)	0.556	3
UniProt:Q9NR31 SAR1A			0.556	3
UniProt:Q6ZSS7 MFSD6			0.556	3
UniProt:O43889-2 CREB3			0.556	3
UniProt:P58418 CLRN1			0.556	3
UniProt:Q13323 BIK			0.556	3
UniProt:Q96BA8 CREB3L1	7	CREB3L1 [Golgi membrane] (R-HSA-8874155) CREB3L1(427-519) [Golgi membrane] (R-HSA-8874139) CREB3L1(1-426) [Golgi membrane] (R-HSA-8874153) CREB3L1 [endoplasmic reticulum membrane] (R-HSA-8874157) CREB3L1(1-375) [cytosol] (R-HSA-8874215) CREB3L1(376-426) [Golgi membrane] (R-HSA-8874213) CREB3L1(1-375) [nucleoplasm] (R-HSA-8874222)	0.556	3
UniProt:P0DTD3 ORF9C			0.527	2