ABCA12 D2363N [plasma membrane]

Stable Identifier
R-HSA-5682291
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ATP-binding cassette sub-family A member 12, ABCAC_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCA12, ABC12
Chain
chain:1-2595
Other Identifiers
0000770440
0000770450
0005050372
11732683_a_at
11732684_a_at
16907979
215465_at
2598146
2598147
2598149
2598150
2598151
2598152
2598153
2598154
2598155
2598156
2598157
2598158
2598159
2598160
2598161
2598163
2598166
2598168
2598169
2598170
2598171
2598172
2598173
2598174
2598175
2598176
2598177
2598178
2598179
2598180
2598182
2598183
2598185
2598186
2598187
2598188
2598189
2598190
2598191
2598192
2598193
2598194
2598195
2598197
2598198
2598199
2598200
2598201
2598202
2598203
2598204
2598207
2598208
2598209
2598210
2598211
2598212
2598213
2598214
2598215
2598216
2598217
2598219
2598230
2598232
2598233
26154
31754_at
3943816
78239
8058708
A_23_P56369
A_33_P3367984
AAK54355
AAN40735
AAP21093
AAY24230
AAY24276
ABCA12
ABCA12-201
ABCA12-202
AC072062
AC114780
AF418105
AL080207
AY033486
AY219711
CAB45776
CCDS33372
CCDS33373
E9PBK1
ENSG00000144452
ENSP00000272895
ENSP00000374312
ENST00000272895
ENST00000389661
EntrezGene:26154
GE479853
GO:0000166
GO:0003674
GO:0005102
GO:0005215
GO:0005319
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0005886
GO:0006810
GO:0006869
GO:0007009
GO:0008150
GO:0010875
GO:0016020
GO:0016021
GO:0016192
GO:0016887
GO:0019725
GO:0022857
GO:0030154
GO:0030216
GO:0031410
GO:0031424
GO:0032940
GO:0033700
GO:0034040
GO:0034191
GO:0035627
GO:0042592
GO:0042626
GO:0043129
GO:0043167
GO:0043226
GO:0043231
GO:0045055
GO:0048286
GO:0048856
GO:0055085
GO:0055088
GO:0061024
GO:0061436
GO:0072659
GO:0097209
GO:2000010
HGNC:14637
HPA078239
Hs.134585.0.S1_3p_at
ILMN_1701642
ILMN_1750250
ILMN_2361400
IPR003439
IPR003593
IPR017871
IPR026082
IPR027417
IPR030371
MIM:242500
MIM:601277
MIM:607800
NM_015657
NM_173076
NP_056472
NP_775099
NR_103740
PF00005
PF12698
PH_hs_0008099
SM00382
TC02002746.hg
uc002vev.4
uc002vew.3
UPI0000160291
UPI000019AB7A
XM_011510951
XP_011509253
Participant Of
Other forms of this molecule
Modified Residues
Name
L-aspartic acid 2363 replaced with L-asparagine
Coordinate
2363
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-asparagine.
A protein modification that effectively removes or replaces an L-aspartic acid.
Disease
Name Identifier Synonyms
congenital ichthyosiform erythroderma 1699 lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
Cross References
OpenTargets
GeneCards
PRO
Orphanet