ABCD4 Y319C [lysosomal membrane]

Stable Identifier
R-HSA-5683326
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal membrane
Synonyms
ATP-binding cassette sub-family D member 4, ABCD4_HUMAN
Icon
ABCD4 Y319C [lysosomal membrane] icon
ABCD4 Y319C [lysosomal membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:O14678 ABCD4
Gene Names
ABCD4, PXMP1L
Chain
chain:1-606
Reference Genes
BioGPS Gene:5826 ABCD4
COSMIC (genes):ABCD4 ABCD4
CTD Gene:5826 ABCD4
dbSNP Gene:5826 ABCD4
ENSEMBL:ENSG00000119688 ABCD4
ENSEMBL_homo_sapiens_GENE:ENSG00000119688.21 ABCD4
HGNC:68 ABCD4
KEGG Gene (Homo sapiens):5826 ABCD4
Monarch:5826 ABCD4
NCBI Gene:5826 ABCD4
OMIM:603214 ABCD4
UCSC:O14678 ABCD4
Reference Transcript
Other Identifiers
11718612_a_at
11718613_a_at
11752625_a_at
16794656
203981_PM_s_at
203981_s_at
203982_PM_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:0003824
GO:0005215
GO:0005324
GO:0005515
GO:0005524
GO:0005764
GO:0005765
GO:0005773
GO:0005777
GO:0005778
GO:0005783
GO:0005789
GO:0005886
GO:0006629
GO:0006635
GO:0006766
GO:0007031
GO:0009235
GO:0015420
GO:0015889
GO:0015910
GO:0016020
GO:0016787
GO:0016887
GO:0042626
GO:0042760
GO:0042802
GO:0043190
GO:0043226
GO:0055085
GO:0140359
GO:0140657
GO:1990830
HMNXSV003052681
Hs.94395.4.S1_3p_a_at
ILMN_1651501
ILMN_2343917
PH_hs_0005175
TC14001304.hg
TC14002086.hg
g4826957_3p_a_at
Participates
as a component of
Other forms of this molecule
ABCD4 E583Lfs*9 [lysosomal membrane]
ABCD4 [lysosomal membrane]
Modified Residues
Name
L-tyrosine 319 replaced with L-cysteine
Coordinate
319
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
methylmalonic acidemia DOID: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
homocystinuria DOID:9263 cystathionine beta synthase deficiency, cystathionine synthase deficiency, Homocystinuria (disorder), CBS deficiency
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
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