Reactome | B4GALT7 A186D [Golgi membrane]

B4GALT7 A186D [Golgi membrane]

Stable Identifier

R-HSA-3621785

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Beta-1,4-galactosyltransferase 7, B4GT7_HUMAN

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External Reference Information

External Reference

UniProt:Q9UBV7 B4GALT7

Gene Names

B4GALT7, XGALT1, UNQ748/PRO1478

Chain

chain:1-327

Reference Genes

BioGPS Gene:11285 B4GALT7

COSMIC (genes):B4GALT7 B4GALT7

CTD Gene:11285 B4GALT7

dbSNP Gene:11285 B4GALT7

ENSEMBL:ENSG00000027847 B4GALT7

HGNC:930 B4GALT7

KEGG:hsa:11285 B4GALT7

Monarch:11285 B4GALT7

NCBI Gene:11285 B4GALT7

OMIM:604327 B4GALT7

UCSC:Q9UBV7 B4GALT7

Reference Transcript

RefSeq:NM_007255.2 B4GALT7

Other Identifiers

11285

11731724_a_at

11731725_x_at

11748293_x_at

16993138

222191_PM_s_at

222191_s_at

2843284

2843285

2843288

2843289

2843290

2843304

2843305

2843308

2843309

2843310

2843311

2843312

2843313

2843314

2843315

2843316

2843317

2843318

2843319

2843320

2843321

46447_at

4873394C_3p_s_at

53076_PM_at

53076_at

8110399

A_14_P125164

A_23_P41872

GE53692

GO:0000139

GO:0003824

GO:0003831

GO:0005515

GO:0005794

GO:0005975

GO:0006024

GO:0006029

GO:0006486

GO:0006487

GO:0008378

GO:0016020

GO:0016740

GO:0016757

GO:0030145

GO:0030166

GO:0030203

GO:0032580

GO:0036211

GO:0043226

GO:0046525

GO:0046872

GO:0048147

GO:0070085

GO:0097435

GO:0140096

GO:1901135

HMNXSV003024194

HMNXSV003053754

ILMN_1663541

PH_hs_0003592

TC05001019.hg

Participates

as a member of

B4GALT7 mutants [Golgi membrane] (Homo sapiens)

Other forms of this molecule

B4GALT7 L206P [Golgi membrane]

B4GALT7 R270C [Golgi membrane]

B4GALT7 [Golgi membrane]

Modified Residues

Name

L-alanine 186 replaced with L-aspartic acid

Coordinate

186

PsiMod

L-aspartic acid residue [MOD:00013]

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

L-alanine removal [MOD:01631]

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

Disease

Name	Identifier	Synonyms
Ehlers-Danlos syndrome	DOID:13359	Cutis hyperelastica, elastic skin

Cross References

ENSEMBL

ENST00000029410, ENSP00000029410

OpenTargets

ENSG00000027847

HPA

ENSG00000027847-B4GALT7

PRO

Q9UBV7

Pharos - Targets

Q9UBV7

GlyGen

Q9UBV7

Orphanet

B4GALT7

HMDB Protein

HMDBP02959

PDB

4IRP, 4IRQ

Interactors (11)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P53611 RABGGTB	2	RABGGTB [plasma membrane] (R-HSA-6801098) RABGGTB [cytosol] (R-HSA-8870419)	0.718	6
IntAct:EBI-10171679 386682			0.556	3
UniProt:Q15323 KRT31	1	KRT31 [cytosol] (R-HSA-6809616)	0.556	3
UniProt:Q9NUH8 TM14B			0.556	3
UniProt:P60409 KRTAP10-7	1	KRTAP10-7 [cytosol] (R-HSA-6810279)	0.556	3
UniProt:A8MQ03 CRTP1			0.556	3
UniProt:P10253 GAA	8	GAA [ficolin-1-rich granule membrane] (R-HSA-6800913) GAA [plasma membrane] (R-HSA-6801041) GAA [azurophil granule membrane] (R-HSA-6800877) GAA [tertiary granule membrane] (R-HSA-6801021) GAA (123-?) [lysosomal lumen] (R-HSA-5357560) GAA (204-?) [lysosomal lumen] (R-HSA-5357544) GAA M318T [lysosomal lumen] (R-HSA-5357607) GAA E521K [lysosomal lumen] (R-HSA-5357598)	0.527	2
UniProt:P02741 CRP	1	CRP(19-224) [extracellular region] (R-HSA-976719)	0.527	2
UniProt:O43505 B4GAT1	1	B4GAT1 [Golgi membrane] (R-HSA-916821)	0.527	2
UniProt:Q16581 C3AR1	3	C3AR1 [plasma membrane] (R-HSA-444727) C3AR1 [azurophil granule membrane] (R-HSA-6799517) C3AR1 [specific granule membrane] (R-HSA-6799516)	0.527	2
UniProt:Q9NU53 GINM1			0.527	3