ABCB6 L811V

Stable Identifier
R-HSA-5683347
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
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:0005524
GO:0005654
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:0010008
GO:0015232
GO:0015439
GO:0015562
GO:0015886
GO:0016020
GO:0016021
GO:0016887
GO:0020037
GO:0031307
GO:0042626
GO:0043190
GO:0043588
GO:0055085
GO:0070062
HGNC:47
HPA046723
HPA058011
Hs.107911
ILMN_1653933
ILMN_2193980
IPR003439
IPR003593
IPR011527
IPR017871
IPR027417
IPR032410
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-leucine 811 replaced with L-valine
Coordinate
811
PsiMod HEY
A protein modification that effectively removes or replaces an L-leucine.
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
microphthalmia 10629 simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
Cross References
RefSeq
GeneCards
DOCK Blaster
PRO
Orphanet
HMDB Protein
PDB