ABCB6 L811V [mitochondrial outer membrane]

Stable Identifier
R-HSA-5683347
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial outer membrane
Synonyms
MTABC3, ATP-binding cassette sub-family B member 6, mitochondrial, ABCB6_HUMAN
Icon
ABCB6 L811V [mitochondrial outer membrane] icon
ABCB6 L811V [mitochondrial outer membrane] icon
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9NP58 ABCB6
Gene Names
ABCB6, MTABC3, PRP, UMAT
Chain
chain:1-842
Reference Genes
BioGPS Gene:10058 ABCB6
COSMIC (genes):ABCB6 ABCB6
CTD Gene:10058 ABCB6
dbSNP Gene:10058 ABCB6
ENSEMBL:ENSG00000115657 ABCB6
ENSEMBL_homo_sapiens_GENE:ENSG00000115657.14 ABCB6
HGNC:47 ABCB6
KEGG Gene (Homo sapiens):10058 ABCB6
Monarch:10058 ABCB6
NCBI Gene:10058 ABCB6
OMIM:605452 ABCB6
UCSC:Q9NP58 ABCB6
Reference Transcript
Other Identifiers
10058
11716187_a_at
11751468_a_at
16908618
16908650
203192_PM_at
203192_at
2599994
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
8059111
A_23_P5441
GE54700
GO:0000139
GO:0000166
GO:0003824
GO:0005215
GO:0005524
GO:0005576
GO:0005615
GO:0005634
GO:0005654
GO:0005739
GO:0005740
GO:0005741
GO:0005764
GO:0005765
GO:0005768
GO:0005773
GO:0005774
GO:0005783
GO:0005789
GO:0005794
GO:0005829
GO:0005886
GO:0006778
GO:0006779
GO:0006878
GO:0006879
GO:0007420
GO:0010008
GO:0015439
GO:0015562
GO:0015886
GO:0016020
GO:0016787
GO:0016887
GO:0020037
GO:0031410
GO:0031901
GO:0031902
GO:0032585
GO:0033013
GO:0033162
GO:0035351
GO:0036020
GO:0042168
GO:0043190
GO:0043226
GO:0043588
GO:0046906
GO:0048856
GO:0055065
GO:0055085
GO:0070062
GO:0098754
GO:0098849
GO:0140359
GO:0140657
GO:1903232
HMNXSV003017238
ILMN_2193980
PH_hs_0005982
TC02005056.hg
g9955962_3p_at
g9955962_3p_x_at
Participates
as a member of
Other forms of this molecule
ABCB6 A57T [mitochondrial outer membrane]
ABCB6 [mitochondrial outer membrane]
Modified Residues
Name
L-leucine 811 replaced with L-valine
Coordinate
811
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
Disease
Name Identifier Synonyms
microphthalmia DOID:10629 simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
Cross References
RefSeq
Guide to Pharmacology - Targets
773
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
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