ABCD1 R554H [peroxisomal membrane]

Stable Identifier
R-HSA-5685072
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ALDP
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCD1, ALD
Chain
chain:1-745
Reference Transcript
Other Identifiers
0003360048
11727955_at
17108096
205142_3p_x_at
205142_x_at
215
2493590
2493591
2493592
2493593
2493595
2493597
3243379
33603_at
3688808
3688821
3689076
3935830
3935831
3995849
3995850
3995851
3995852
3995854
3995865
3995866
3995868
3995869
3995870
3995874
3995875
3995876
3995877
3995878
8170704
89043_at
A6NEP8
A_23_P148556
AAH15541
AAH25358
ABCD1
ABCD1-201
BC015541
BC025358
CAA79922
CAA83230
CCDS14728
ENSG00000101986
ENSP00000218104
ENST00000218104
EntrezGene:215
g7262392_3p_at
g7262392_3p_x_at
GE58202
GO:0000038
GO:0000166
GO:0002082
GO:0003674
GO:0005215
GO:0005324
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005764
GO:0005765
GO:0005773
GO:0005777
GO:0005778
GO:0005779
GO:0005783
GO:0005789
GO:0005829
GO:0006091
GO:0006629
GO:0006635
GO:0006790
GO:0006810
GO:0006950
GO:0007009
GO:0007031
GO:0008150
GO:0009056
GO:0009058
GO:0015607
GO:0015910
GO:0015916
GO:0015919
GO:0016020
GO:0016021
GO:0016887
GO:0019899
GO:0022857
GO:0030497
GO:0031966
GO:0031998
GO:0032000
GO:0033540
GO:0034641
GO:0034655
GO:0036109
GO:0036113
GO:0042592
GO:0042626
GO:0042758
GO:0042760
GO:0042802
GO:0042803
GO:0043167
GO:0043217
GO:0043226
GO:0043531
GO:0043651
GO:0044281
GO:0048471
GO:0048856
GO:0051186
GO:0051900
GO:0055085
GO:0055089
GO:0055092
GO:0061024
GO:1900016
GO:1900407
GO:1903427
GO:1990535
GO:2001280
HGNC:61
ILMN_1772189
IPR003439
IPR003593
IPR005283
IPR011527
IPR017871
IPR027417
IPR031237
IPR036640
MIM:300100
MIM:300371
NM_000033
NP_000024
PF00005
PF06472
PH_hs_0009720
SM00382
TC0X000755.hg
U52111
U52111_rna3_at
uc004fif.2
UPI0000000DF5
XR_938507
Z21876
Z31006
Z31007
Z31008
Z31009
Z31010
Z31348
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 554 replaced with L-histidine
Coordinate
554
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-histidine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
adrenoleukodystrophy 10588 ALD, Siemerling-Creutzfeldt Disease, diffuse sclerosis, X-linked adrenoleukodystrophy, Adrenoleukodystrophy, Schilder disease, Bronze Schilder disease, Encephalitis periaxialis, Schilder's, Encephalitis periaxialis concentrica, SUDANOPHILIC CEREBRAL SCLEROSIS
Cross References
RefSeq
OpenTargets
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet