Reactome | ALG9 Y286C [endoplasmic reticulum membrane]

ALG9 Y286C [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4720474

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Alpha-1,2-mannosyltransferase ALG9, ALG9_HUMAN

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External Reference Information

External Reference

UniProt:Q9H6U8 ALG9

Gene Names

ALG9, DIBD1

Chain

chain:1-611

Reference Genes

BioGPS Gene:79796 ALG9

COSMIC (genes):ALG9 ALG9

CTD Gene:79796 ALG9

dbSNP Gene:79796 ALG9

ENSEMBL:ENSG00000086848 ALG9

HGNC:15672 ALG9

KEGG:hsa:79796 ALG9

Monarch:79796 ALG9

NCBI Gene:79796 ALG9

OMIM:606941 ALG9

UCSC:Q9H6U8 ALG9

Reference Transcript

Other Identifiers

11726400_a_at

11726401_a_at

11726402_s_at

11747122_x_at

11760767_at

16744322

219374_PM_s_at

219374_s_at

228817_PM_at

228817_at

3391086

3391090

3391092

3391094

3391095

3391096

3391097

3391098

3391100

3391101

3391103

3391104

3391105

3391113

3391114

3391115

3391116

3391117

3391118

3391120

3391121

3391124

3391126

3391127

3391130

3391131

3391132

3391133

3391134

3391135

3391136

3391137

55503_at

76266_at

7951633

79796

A_23_P64193

A_24_P795594

A_32_P49188

GE87114

GE87868

GO:0000026

GO:0003824

GO:0005783

GO:0005789

GO:0006486

GO:0006487

GO:0006488

GO:0006629

GO:0016020

GO:0016740

GO:0016757

GO:0043226

GO:0052918

GO:0052926

GO:0098553

GO:1901135

HMNXSV003037407

HMNXSV003046984

HMNXSV003058037

Hs.96918.0.A1_3p_at

ILMN_1732809

PH_hs_0027226

TC11003493.hg

g13376061_3p_a_at

Participates

as a member of

ALG9 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

ALG9 E523K [endoplasmic reticulum membrane]

ALG9 [endoplasmic reticulum membrane]

Modified Residues

Name

L-tyrosine 286 replaced with L-cysteine

Coordinate

286

PsiMod

L-tyrosine removal [MOD:01649]

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

L-cysteine residue [MOD:00014]

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

Disease

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

Cross References

ENSEMBL

ENST00000398006, ENSP00000381090, ENST00000614444, ENSP00000482437, ENSP00000435517, ENST00000616540, ENSP00000484200, ENST00000531154

OpenTargets

ENSG00000086848

HPA

ENSG00000086848-ALG9

PRO

Q9H6U8

Pharos - Targets

Q9H6U8

GlyGen

Q9H6U8

Orphanet

ALG9

HMDB Protein

HMDBP11610

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q96GX1 TCTN2	1	TCTN2 [ciliary membrane] (R-HSA-5626661)	0.483	3