Property Summary

NCBI Gene PubMed Count 43
Grant Count 45
R01 Count 26
Funding $8,003,454.41
PubMed Score 418.55
PubTator Score 671.94

Knowledge Summary

Patent

No data available

Expression

MLP Assay (7)

AID Type Active / Inconclusive / Inactive Description
588550 screening 18 / 0 / 1975 Flow Cytometric HTS Screen for inhibitors of the ABC transporter ABCB6 for Validation Compound Set
588561 summary 0 / 0 / 0 Summary for HTS Screen for inhibitors of the ABC transporter ABCB6
602162 screening 692 / 184 / 361546 Flow Cytometric HTS Screen for inhibitors of the ABC transporter ABCB6 for MLPCN Compound Set
602430 screening 1 / 0 / 699 Flow Cytometric HTS Screen for inhibitors of the ABC transporter ABCB6 for Cherry Pick 1 Compounds
623955 confirmatory 8 / 0 / 24 Dose Response of Flow Cytometric HTS Screen for inhibitors of the ABC transporter ABCB6 for Cherry Pick01
624487 confirmatory 12 / 0 / 14 Dose Response of Flow Cytometric HTS Screen for inhibitors of the ABC transporter ABCB6 for Cherry Pick02.
651663 confirmatory 0 / 0 / 4 Dose Response of Flow Cytometric HTS Screen for inhibitors of the ABC transporter ABCB6 for Powder Set01

Gene RIF (32)

PMID Text
25627919 Data suggest N-terminal transmembrane domain of ABCB6 functions as independent folding unit and plays crucial role in lysosomal (rather than plasma membrane) targeting of ABCB6; this domain is dispensable for dimerization and ATP binding/hydrolysis.
25573285 These data indicate that the expression of ABCB6 in plasma membrane is important for porphyrin accumulation after ALA administration, including hypoxic conditions.
25360778 genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought.
25288164 Identified two novel ABCB6 mutations in two Chinese families affected with dyschromatosis universalis hereditaria (DUH), underscoring the causative role of the ABCB6 mutations in the molecular pathogenesis of DUH.
25202056 Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine.
24947683 a heterozygous substitution Arg723Gln in the ATP-binding cassette, Subfamily B, Member 6 protein that segregated with FP in the Cardiff family and was also present in both blood donors. Arg723Gln is listed in human variation databases
24498303 Data indicate ATP-binding cassette sub-family B member 6 (ABCB6) as the disease candidate gene by discovering a coding mutation (c.1358C>T; p.Ala453Val) that co-segregates with the dyschromatosis universalis hereditaria phenotype.
24456066 We describe eight new mutations in ABCB6 of which seven, including three missense mutations, underlie the Lan- phenotype and determine that a complete gene deletion of ABCG2 or ABCB6 is not responsible for the Jr(a-) or Lan- phenotype, respectively.
24224009 data add new variants to the repertoire of ABCB6 mutations with dyschromatosis universalis hereditaria.
24192121 No significant associations were detected for the ABCB6 or ABCG1 gene.
More...

AA Sequence

MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGADSLSWGAGPRI      1 - 70
SPYVLQLLLATLQAALPLAGLAGRVGTARGAPLPSYLLLASVLESLAGACGLWLLVVERSQARQRLAMGI     71 - 140
WIKFRHSPGLLLLWTVAFAAENLALVSWNSPQWWWARADLGQQVQFSLWVLRYVVSGGLFVLGLWAPGLR    141 - 210
PQSYTLQVHEEDQDVERSQVRSAAQQSTWRDFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNV    211 - 280
LVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLKFLQGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIF    281 - 350
SHLHELSLRWHLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLC    351 - 420
MSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAIIKYQGLEWKS    421 - 490
SASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQLYMPLNWFGTYYRMIQTNFID    491 - 560
MENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYADGRETLQDVSFTVMPGQTLALVGPSGAGKS    561 - 630
TILRLLFRFYDISSGCIRIDGQDISQVTQASLRSHIGVVPQDTVLFNDTIADNIRYGRVTAGNDEVEAAA    631 - 700
QAAGIHDAIMAFPEGYRTQVGERGLKLSGGEKQRVAIARTILKAPGIILLDEATSALDTSNERAIQASLA    701 - 770
KVCANRTTIVVAHRLSTVVNADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTM    771 - 840
ER                                                                        841 - 842
//

Text Mined References (45)

PMID Year Title
25627919 2015 Role of the N-terminal transmembrane domain in the endo-lysosomal targeting and function of the human ABCB6 protein.
25573285 2015 Effects of plasma membrane ABCB6 on 5-aminolevulinic acid (ALA)-induced porphyrin accumulation in vitro: tumor cell response to hypoxia.
25360778 2014 Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.
25288164 2014 Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
25202056 2014 Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine.
24947683 2014 Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.
24498303 2014 Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
24456066 2014 Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24224009 2013 Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
More...