Reactome | B3GAT3 R277Q [Golgi membrane]

B3GAT3 R277Q [Golgi membrane]

Stable Identifier

R-HSA-3621732

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3, B3GA3_HUMAN

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External Reference Information

External Reference

UniProt:O94766 B3GAT3

Gene Names

B3GAT3

Chain

chain:1-335

Reference Genes

BioGPS Gene:26229 B3GAT3

COSMIC (genes):B3GAT3 B3GAT3

CTD Gene:26229 B3GAT3

dbSNP Gene:26229 B3GAT3

ENSEMBL:ENSG00000149541 B3GAT3

HGNC:923 B3GAT3

KEGG Gene (Homo sapiens):26229 B3GAT3

Monarch:26229 B3GAT3

NCBI Gene:26229 B3GAT3

OMIM:606374 B3GAT3

UCSC:O94766 B3GAT3

Reference Transcript

Other Identifiers

0001340451

11746346_s_at

11746347_s_at

16739383

203452_at

26229

2650289

2650290

2650292

2650295

3375936

3375937

3375939

3375940

3375945

3375946

3375949

35179_at

7948741

A_23_P36140

A_33_P3225685

GE53235

GO:0000139

GO:0003674

GO:0005515

GO:0005575

GO:0005576

GO:0005615

GO:0005622

GO:0005737

GO:0005794

GO:0005801

GO:0005975

GO:0006024

GO:0006464

GO:0006486

GO:0006810

GO:0008150

GO:0009058

GO:0015012

GO:0015018

GO:0015020

GO:0015031

GO:0016020

GO:0016021

GO:0016740

GO:0016757

GO:0030203

GO:0030234

GO:0043085

GO:0043167

GO:0043226

GO:0046872

GO:0050650

GO:0050651

GO:0070062

GO:0072542

GO:0090316

HMNXSV003053947

ILMN_1721432

ILMN_2210581

PH_hs_0032143

TC11001872.hg

g12408653_3p_s_at

Participates

as a component of

B3GAT3 R277Q:Mn2+ dimer [Golgi membrane] (Homo sapiens)

Other forms of this molecule

B3GAT3 [Golgi membrane]

Modified Residues

Name

L-arginine 277 replaced with L-glutamine

Coordinate

277

PsiMod

L-arginine removal [MOD:01632]

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

L-glutamine residue [MOD:00016]

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

Disease

Name	Identifier	Synonyms
Larsen syndrome	DOID:14764	dominant larsen syndrome
congenital heart defect	DOID:1682	Congenital anomaly of heart, Congenital Heart Defects, heart defect, Heart Malformation

Cross References

RefSeq

NP_001275652.1, NP_036332.2

OpenTargets

ENSG00000149541

IntEnz

2.4.1.135

HPA

ENSG00000149541-B3GAT3

GeneCards

O94766

Ensembl

ENSP00000265471, ENST00000534026, ENST00000265471, ENSG00000149541, ENSP00000432474

PRO

O94766

Pharos - Targets

O94766

Orphanet

20577

GlyGen

O94766

PDB

1FGG, 3CU0, 1KWS

HMDB Protein

HMDBP00933

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9H5K3 POMK	1	POMK [endoplasmic reticulum membrane] (R-HSA-8879120)	0.499	2