B4GALT1 R345Kfs*6

Stable Identifier
R-HSA-3656417
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Beta-1,4-galactosyltransferase 1, B4GT1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
B4GALT1, GGTB2
Chain
chain:1-398, chain:-398
Reference Transcript
Other Identifiers
10806
10807
11716154_x_at
11716155_s_at
11716156_a_at
11747049_a_at
17093186
201882_x_at
201883_s_at
211631_x_at
216627_s_at
2683
2AE7
2AEC
2AES
2AGD
2AH9
2FY7
2FYA
2FYB
32772_s_at
3EE5
40960_at
4EE3
4EE4
4EE5
4EEA
4EEG
4EEM
4EEO
4L41
8160637
A_23_P135271
A_24_P103803
B4GALT1
B4GALT1-201
CCDS6535
D29805_at
ENSG00000086062
ENSP00000369055
ENST00000379731
EntrezGene:2683
g474986_3p_a_at
g474986_3p_x_at
GE62066
GO:0000138
GO:0000139
GO:0002064
GO:0002526
GO:0003831
GO:0003945
GO:0004461
GO:0005576
GO:0005615
GO:0005794
GO:0005886
GO:0005975
GO:0005989
GO:0006012
GO:0006486
GO:0006487
GO:0007155
GO:0007339
GO:0007341
GO:0008092
GO:0008285
GO:0008378
GO:0009101
GO:0009312
GO:0009897
GO:0009986
GO:0016020
GO:0016021
GO:0016323
GO:0016740
GO:0016757
GO:0018146
GO:0030057
GO:0030145
GO:0030175
GO:0030198
GO:0030667
GO:0030879
GO:0031526
GO:0032580
GO:0035250
GO:0035577
GO:0042060
GO:0042127
GO:0042995
GO:0043065
GO:0043312
GO:0045136
GO:0046872
GO:0048754
GO:0050900
GO:0051260
GO:0051270
GO:0060046
GO:0060054
GO:0060055
GO:0060058
GO:0070062
HGNC:924
HPA010806
HPA010807
Hs.198248.0.S1_3p_s_at
Hs.198248.3.S1_3p_s_at
Hs.272011
MIM:137060
MIM:607091
NM_001497
NP_001488
PF02709
PF13733
PH_hs_0024571
PR02050
Q86XA6
TC09001008.hg
U10473_s_at
uc003zsg.3
UPI000002D22E
X14085_s_at
XM_005251440
XP_005251497
Other forms of this molecule
Modified Residues
Name
Replacement of residues 345 to 349 by KRQEK
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
Cross References
RefSeq
GeneCards
DOCK Blaster
ZINC target
PRO
Orphanet
HMDB Protein