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
HGNC:68 ABCD4
KEGG:hsa: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
3571820
3571821
3571822
3571823
3571824
3571825
3571826
3571827
3571828
3571829
3571830
3571831
3571832
3571833
3571834
3571835
3571836
3571837
3571838
3571839
3571840
3571841
3571842
3571843
3571844
3571845
3571846
3571847
3571848
3571849
3571850
3571851
3571852
3571853
3571854
3571855
3571856
3571857
3571858
3571859
3571860
3571861
3571862
3571863
3571864
3571865
3571866
3571867
3571873
3571874
39121_at
5826
7980115
86229_r_at
A_23_P37327
GE60314
GE85283
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: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
HMNXSV003000322
HMNXSV003008959
HMNXSV003026042
HMNXSV003052681
Hs.94395.4.S1_3p_a_at
ILMN_1651501
ILMN_1737656
ILMN_1746032
ILMN_2343917
PH_hs_0005175
TC14001304.hg
TC14002086.hg
g4826957_3p_a_at
p4581
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
ENSEMBL
OpenTargets
IntEnz
HPA
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P23945 FSHR  1 0.527 2
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