Reactome | B3GALT6 S65G [Golgi membrane]

B3GALT6 S65G [Golgi membrane]

Stable Identifier

R-HSA-4420368

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Beta-1,3-galactosyltransferase 6, B3GT6_HUMAN

Icon

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:Q96L58 B3GALT6

Gene Names

B3GALT6

Chain

chain:1-329

Reference Genes

BioGPS Gene:126792 B3GALT6

COSMIC (genes):B3GALT6 B3GALT6

CTD Gene:126792 B3GALT6

dbSNP Gene:126792 B3GALT6

ENSEMBL:ENSG00000176022 B3GALT6

HGNC:17978 B3GALT6

KEGG:hsa:126792 B3GALT6

Monarch:126792 B3GALT6

NCBI Gene:126792 B3GALT6

OMIM:615291 B3GALT6

UCSC:Q96L58 B3GALT6

Reference Transcript

RefSeq:NM_080605.3 B3GALT6

Other Identifiers

11720683_at

11720684_at

126792

1553959_PM_a_at

1553959_a_at

16657680

225733_PM_at

225733_at

2315637

2315638

2315639

2315640

2315641

2315642

2315643

2315644

2315645

49058_at

7896878

A_23_P35021

A_24_P174063

A_33_P3407042

GE54772

GO:0000139

GO:0003824

GO:0005794

GO:0005797

GO:0006024

GO:0006486

GO:0006493

GO:0006790

GO:0015012

GO:0016020

GO:0016740

GO:0016757

GO:0016758

GO:0030166

GO:0030203

GO:0030206

GO:0032580

GO:0035250

GO:0043226

GO:0047220

GO:0140096

GO:1901135

GO:1901137

HMNXSV003054301

Hs.284284.0.A1_3p_at

Hs2.284284.1.S1_3p_s_at

ILMN_1739749

PH_hs_0029625

TC01000031.hg

Participates

as a member of

B3GALT6 mutants [Golgi membrane] (Homo sapiens)

Other forms of this molecule

B3GALT6 P67L [Golgi membrane]

B3GALT6 D207H [Golgi membrane]

B3GALT6 D118Afs*160 [Golgi membrane]

B3GALT6 C300S [Golgi membrane]

B3GALT6 D156N [Golgi membrane]

B3GALT6 R232C [Golgi membrane]

B3GALT6 R197Afs*81 [Golgi membrane]

B3GALT6 M1? [Golgi membrane]

B3GALT6 G217S [Golgi membrane]

B3GALT6 [Golgi membrane]

Modified Residues

Name

L-serine 65 replaced with glycine

Coordinate

PsiMod

L-serine removal [MOD:01646]

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

glycine residue [MOD:00017]

A protein modification that effectively converts a source amino acid residue to a glycine.

Disease

Name	Identifier	Synonyms
spondyloepimetaphyseal dysplasia	DOID:0080027

Cross References

ENSEMBL

ENSP00000368496, ENST00000379198

OpenTargets

ENSG00000176022

IntEnz

2.4.1.134

HPA

ENSG00000176022-B3GALT6

PRO

Q96L58

Pharos - Targets

Q96L58

GlyGen

Q96L58

Orphanet

B3GALT6

HMDB Protein

HMDBP03281

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P40855 PEX19	1	PEX19 [cytosol] (R-HSA-3009036)	0.527	2
UniProt:Q9NY72 SCN3B	1	SCN3B [plasma membrane] (R-HSA-197921)	0.527	3
UniProt:Q16322 KCNA10	1	KCNA10 [plasma membrane] (R-HSA-977480)	0.527	2

Cite Us!