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
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
3396
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
A0A024R6B9
A_23_P37327
AAB83967
AAH12815
AAP36080
ABCD4
ABCD4-201
AF009746
AK291332
BAF84021
BC012815
BT007412
CAA74699
CAG33385
CCDS9828
CH471061
CR457104
E9PI46
E9PPB6
EAW81167
EAW81172
ENSG00000119688
ENSP00000349396
ENST00000356924
ENST00000356924.8
EntrezGene:5826
EntrezGene:ABCD4
G3V3W1
G3V4U7
g4826957_3p_a_at
GE60314
GO:0000166
GO:0003674
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005765
GO:0005773
GO:0005777
GO:0005778
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:0099131
GO:1990830
HGNC:68
HPA003396
Hs.94395.4.S1_3p_a_at
ILMN_1651501
ILMN_1717701
ILMN_2343917
IPR003439
IPR003593
IPR011527
IPR017871
IPR027417
IPR036640
MIM:603214
MIM:614857
NM_001353591
NM_001353592
NM_001353593
NM_001353594
NM_001353595
NM_001353596
NM_001353597
NM_001353598
NM_001353599
NM_001353600
NM_001353601
NM_001353602
NM_001353603
NM_001353604
NM_001353605
NM_001353606
NM_001353607
NM_001353608
NM_001353609
NM_005050
NM_020324
NM_020325
NP_001340520
NP_001340521
NP_001340522
NP_001340523
NP_001340524
NP_001340525
NP_001340526
NP_001340527
NP_001340528
NP_001340529
NP_001340530
NP_001340531
NP_001340532
NP_001340533
NP_001340534
NP_001340535
NP_001340536
NP_001340537
NP_001340538
NP_005041
NP_064720
NP_064730
NR_148466
NR_148469
NR_148471
NR_148472
NR_148473
NR_148474
PF00005
PF06472
PH_hs_0005175
SM00382
TC14001304.hg
TC14002086.hg
UPI000004C4C8
XM_005267940
XM_005267942
XM_011537041
XM_017021531
XM_017021534
XM_017021539
XM_017021540
XM_017021541
XM_017021542
XM_024449675
XM_024449676
XM_024449677
XM_024449678
XM_024449679
XP_005267997
XP_005267999
XP_011535343
XP_016877020
XP_016877023
XP_016877028
XP_016877029
XP_016877030
XP_016877031
XP_024305443
XP_024305444
XP_024305445
XP_024305446
XP_024305447
XR_001750476
XR_001750478
XR_001750480
XR_001750482
XR_002957565
XR_245710
XR_943500
Y14318
Y14319
Y14320
Y14321
Y14322
Y14323
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