HHAT G287V

Stable Identifier
R-HSA-5483226
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MART2, SKI1
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
HHAT, MART2, SKI1
Chain
chain:1-493
Other Identifiers
0004570731
11750437_a_at
11756903_a_at
16462
16677082
219687_at
2378392
2378393
2378394
2378395
2378398
2378399
2378402
2378403
2378404
2378405
2378407
2378412
2378423
2378431
2378444
2378453
2378458
2378459
2378460
2378461
51871_at
55733
7909510
A_14_P131922
A_23_P136355
AAI17131
AC096636
AK001586
AK297193
AK298991
AK302955
AK316190
AK316524
AL034351
AL035414
AL049848
AL590653
AL691441
B1AK61
BAA91772
BAH12521
BAH12917
BAH13854
BAH14561
BAH14895
BC117130
BX255872
CAB42852
CAH70523
CAI17039
CAI22284
CAI23103
CAI23104
CAI56771
CCDS1495
CCDS53471
CCDS53472
CCDS53473
CH471100
CR936628
EAW93427
EAW93428
EAW93430
ENSG00000054392
ENSG00000280680
ENSP00000261458
ENSP00000355977
ENSP00000416845
ENSP00000438468
ENSP00000442625
ENSP00000444995
ENSP00000486054
ENSP00000486128
ENSP00000486611
ENSP00000486634
ENSP00000487400
ENSP00000487414
ENST00000261458
ENST00000367010
ENST00000413764
ENST00000537898
ENST00000541565
ENST00000545154
ENST00000625523
ENST00000625820
ENST00000626327
ENST00000627903
ENST00000628693
ENST00000629360
EntrezGene:55733
g8922620_3p_at
GE82322
GO:0000166
GO:0003674
GO:0005525
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0006464
GO:0006605
GO:0006810
GO:0007005
GO:0007165
GO:0007224
GO:0007275
GO:0008150
GO:0008374
GO:0009058
GO:0016020
GO:0016021
GO:0016409
GO:0016740
GO:0016746
GO:0018345
GO:0043167
GO:0043226
GO:0048856
GO:1903955
HGNC:18270
HHAT
HHAT-201
HHAT-203
HHAT-204
HHAT-206
HHAT-207
HHAT-208
HHAT-210
HHAT-211
HHAT-212
HHAT-213
HHAT-215
HHAT-217
HPA016462
ILMN_1693853
IPR004299
IPR032981
MIM:605743
NM_001122834
NM_001170564
NM_001170580
NM_001170587
NM_001170588
NM_018194
NP_001116306
NP_001164035
NP_001164051
NP_001164058
NP_001164059
NP_060664
PF03062
PH_hs_0003774
TC01001755.hg
uc001hhz.5
uc009xcx.3
uc009xcy.3
uc010psq.2
uc010psr.2
uc021pip.2
UPI000004A086
UPI0001914DBD
UPI0001914FD3
UPI0001C0B381
XM_006711441
XM_011509737
XM_011509738
XM_011509739
XM_011509740
XM_011509741
XM_011509742
XM_011509744
XM_011509746
XM_011509747
XM_017001726
XM_017001727
XM_017001728
XM_017001729
XM_017001730
XM_017001731
XM_017001732
XM_017001733
XM_017001734
XM_017001735
XM_017001736
XM_017001737
XM_017001738
XM_017001739
XM_017001740
XP_006711504
XP_011508039
XP_011508040
XP_011508041
XP_011508042
XP_011508043
XP_011508044
XP_011508046
XP_011508048
XP_011508049
XP_016857215
XP_016857216
XP_016857217
XP_016857218
XP_016857219
XP_016857220
XP_016857221
XP_016857222
XP_016857223
XP_016857224
XP_016857225
XP_016857226
XP_016857227
XP_016857228
XP_016857229
Other forms of this molecule
Modified Residues
Name
glycine 287 replaced with L-valine
Coordinate
287
PsiMod HEY
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
46 XY gonadal dysgenesis 14448 Pure gonadal dysgenesis 46,XY (disorder), 46,XY SEX REVERSAL