Reactome | ALG6 A333V [endoplasmic reticulum membrane]

ALG6 A333V [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4724295

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase, ALG6_HUMAN

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External Reference Information

External Reference

UniProt:Q9Y672 ALG6

Gene Names

ALG6, My046

Chain

chain:1-507

Reference Genes

BioGPS Gene:29929 ALG6

COSMIC (genes):ALG6 ALG6

CTD Gene:29929 ALG6

dbSNP Gene:29929 ALG6

ENSEMBL:ENSG00000088035 ALG6

ENSEMBL_homo_sapiens_GENE:ENSG00000088035.18 ALG6

HGNC:23157 ALG6

KEGG Gene (Homo sapiens):29929 ALG6

Monarch:29929 ALG6

NCBI Gene:29929 ALG6

OMIM:604566 ALG6

UCSC:Q9Y672 ALG6

Reference Transcript

RefSeq:NM_013339.3 ALG6

Other Identifiers

11723990_at

11723991_a_at

11751023_a_at

16665512

219649_PM_at

219649_at

2339683

2339684

2339685

2339686

2339690

2339694

2339695

2339696

2339697

2339699

2339700

2339701

2339704

2339705

2339706

2339709

2339711

2339714

2339715

2339716

2339717

2339719

29929

52733_at

52735_g_at

70182_at

7901915

88210_at

A_14_P105676

A_14_P112481

A_23_P35168

GE58524

GO:0003824

GO:0004583

GO:0005783

GO:0005789

GO:0006486

GO:0006487

GO:0006488

GO:0006490

GO:0006629

GO:0016020

GO:0016740

GO:0016757

GO:0016758

GO:0036211

GO:0042281

GO:0043226

GO:0046527

GO:1901135

HMNXSV003025949

HMNXSV003030730

ILMN_1771411

TC01000719.hg

g7019324_3p_at

Participates

as a member of

ALG6 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

ALG6 S478P [endoplasmic reticulum membrane]

ALG6 [endoplasmic reticulum membrane]

Modified Residues

Name

L-alanine 333 replaced with L-valine

Coordinate

333

PsiMod

L-valine residue [MOD:00029]

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

L-alanine removal [MOD:01631]

A protein modification that effectively removes or replaces an L-alanine.

Disease

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

Cross References

RefSeq

NP_037471.2

OpenTargets

ENSG00000088035

GeneCards

Q9Y672

HPA

ENSG00000088035-ALG6

Ensembl

ENST00000263440, ENSG00000088035, ENSP00000263440

PRO

Q9Y672

Pharos - Targets

Q9Y672

Orphanet

15498

HMDB Protein

HMDBP09187

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