ABCB6 A57T

Stable Identifier
R-HSA-5683344
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MTABC3, ATP-binding cassette sub-family B member 6, mitochondrial, ABCB6_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCB6, MTABC3, PRP, UMAT
Chain
chain:1-842
Reference Transcript
Other Identifiers
0002360347
10058
11716187_a_at
11751468_a_at
16908618
203192_at
2599995
2599996
2599997
2599998
2599999
2600001
2600004
2600005
2600007
2600009
2600011
2600012
2600013
2600014
2600016
2600018
2600020
2600022
2600024
2600025
2600026
2600027
2600028
2600029
2600030
2600031
2600032
2600033
2600034
39805_at
3NH6
3NH9
3NHA
3NHB
46723
58011
8059111
A_23_P5441
A_24_P197196
AAC28653
AAF75107
AAG33617
AAG33618
AAH00559
AAH43423
AB039371
AB209054
ABCB6
ABCB6-201
AF070598
AF076775
AF308472
AF308473
AJ289233
AK057026
AK172812
BAA96733
BAB71347
BAD18782
BAD92291
BC000559
BC043423
CAB95766
CCDS2436
ENSG00000115657
ENSP00000265316
ENST00000265316
EntrezGene:10058
g9955962_3p_at
g9955962_3p_x_at
GE54651
GE54700
GO:0000139
GO:0000166
GO:0003674
GO:0005524
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005740
GO:0005741
GO:0005768
GO:0005783
GO:0005789
GO:0005794
GO:0005829
GO:0005886
GO:0006779
GO:0006810
GO:0006879
GO:0007420
GO:0008150
GO:0009058
GO:0010008
GO:0015232
GO:0015439
GO:0015562
GO:0015886
GO:0016020
GO:0016021
GO:0016887
GO:0020037
GO:0022857
GO:0031307
GO:0031410
GO:0032991
GO:0034641
GO:0042592
GO:0042626
GO:0043167
GO:0043190
GO:0043226
GO:0043588
GO:0048856
GO:0051186
GO:0055085
GO:0070062
H7C1R6
HGNC:47
HPA046723
HPA058011
ILMN_1653933
ILMN_2193980
IPR003439
IPR003593
IPR011527
IPR017871
IPR027417
IPR032410
IPR036640
MIM:111600
MIM:605452
MIM:609153
MIM:614497
MIM:615402
NM_005689
NP_005680
PF00005
PF00664
PF16185
PH_hs_0005982
SM00382
TC02005056.hg
uc002vkc.3
UPI000004C4BA
Participant Of
Other forms of this molecule
Modified Residues
Name
L-alanine 57 replaced with L-threonine
Coordinate
57
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to L-threonine.
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name Identifier Synonyms
microphthalmia 10629 simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
Cross References
RefSeq
GeneCards
PRO
Orphanet
HMDB Protein
PDB