ABCD4 Y319C [lysosomal membrane]

Stable Identifier
R-HSA-5683326
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ATP-binding cassette sub-family D member 4, ABCD4_HUMAN
ABCD4 Y319C [lysosomal membrane] icon
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCD4, PXMP1L
Chain
chain:1-606
Reference Transcript
Other Identifiers
0000360670
11718612_a_at
11718613_a_at
11752625_a_at
16794656
203981_s_at
203982_s_at
3571816
3571817
3571818
3571819
3571823
3571825
3571828
3571831
3571834
3571838
3571840
3571842
3571844
3571846
3571850
3571856
3571857
3571859
3571860
3571863
3571866
3571867
3571873
39121_at
5826
7980115
A_23_P37327
GE60314
GO:0000166
GO:0003674
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005737
GO:0005764
GO:0005765
GO:0005773
GO:0005777
GO:0005783
GO:0005789
GO:0005886
GO:0006810
GO:0008150
GO:0009235
GO:0016020
GO:0016021
GO:0016887
GO:0022857
GO:0032991
GO:0042626
GO:0043167
GO:0043190
GO:0043226
GO:0044281
GO:0051186
GO:0055085
GO:1990830
Hs.94395.4.S1_3p_a_at
ILMN_1651501
ILMN_1717701
ILMN_2343917
PH_hs_0005175
TC14001304.hg
TC14002086.hg
g4826957_3p_a_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-tyrosine 319 replaced with L-cysteine
Coordinate
319
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name Identifier Synonyms
homocystinuria 9263 cystathionine beta synthase deficiency, cystathionine synthase deficiency, Homocystinuria (disorder), CBS deficiency
methylmalonic acidemia 14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
PDB
Interactors (1)
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