Protein detail

ABCB6

ATP-binding cassette sub-family B member 6 (ABC-type heme transporter ABCB6) (EC 7.6.2.5) (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)

Entry name
ABCB6
UniProt ID
Q9NP58
EVMP score
0.38
Frequency
1
Transmembrane count
11
Protein classification
Disease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted membrane proteinsTransporters
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
ATP-binding cassette sub-family B member 6 (ABC-type heme transporter ABCB6) (EC 7.6.2.5) (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)
Protein Class
Disease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted membrane proteinsTransporters
Protein Function
  • Human disease related genes:Cardiovascular diseases:Hematologic diseases
  • Human disease related genes:Congenital malformations:Congenital malformations of eye
  • Potential drug targets
  • Enzymes
  • ENZYME proteins
  • Human disease related genes:Skin diseases:Skin and soft tissue diseases
  • Transporters:Primary Active Transporters
  • Disease related genes
Transmembrane
27..47; Helical; 73..93; Helical; 107..127; Helical; 148..168; Helical; 186..206; Helical; 264..284; Helical; 292..312; Helical; 376..396; Helical; 398..418; Helical; 500..520; Helical; 530..550; Helical
Transmembrane Count
11
Ensembl
ENSG00000115657
Entrez Gene Symbol
ABCB6
Gene Synonym
EST45597MTABC3umat
Gene Description
ATP binding cassette subfamily B member 6 (Langereis blood group)
Chromosome
2
Position
219209772-219218994
Frequency
1
EVMP Score
0.38
Fluorescence & Localization
Tissue SpecificbrainCell SpecificBrain excitatory neuronsBlood Cell SpecificgdT-cellBlood Lineage SpecificB-cells
Function & Pathway
Protein Function
  • Human disease related genes:Cardiovascular diseases:Hematologic diseases
  • Human disease related genes:Congenital malformations:Congenital malformations of eye
  • Potential drug targets
  • Enzymes
  • ENZYME proteins
  • Human disease related genes:Skin diseases:Skin and soft tissue diseases
  • Transporters:Primary Active Transporters
  • Disease related genes
Cellular Component
Molecular Function
Biological Process
KEGG
hsa02010 ABC transporters
Reactome
Canonical Pathways
M174 Pid upa upar pathway
Mediation Categories
Clinical-translation mediationFusion and delivery mediationMetabolism mediation
Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

21 records.

CategoryParentDatabaseTransmitterReceiverSecretedPlasma Membrane (Transmembrane)Plasma Membrane (Peripheral)
transmembranetransmembraneTopDBNoNoYesNoNo
transmembranetransmembraneLOCATENoNoYesNoNo
transmembranetransmembraneRamilowski_locationNoNoYesNoNo
transmembranetransmembraneOmniPathNoNoYesNoNo
plasma_membraneplasma_membraneUniProt_locationNoNoYesNoNo
plasma_membraneplasma_membraneOmniPathNoNoYesNoNo
secretedsecretedUniProt_keywordNoNoYesNoNo
secretedsecretedUniProt_locationNoNoYesNoNo
secretedsecretedOmniPathNoNoYesNoNo
receptorreceptorscConnectNoYesYesNoNo
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Regulatory Interaction Network

0 records.

Protein Complex Composition

5 records.

Component NameComponent Gene SymbolsComponent UniProt IDStoichiometryDatabaseDatabase IDsReferences
ABCB6CYLC2DUSP11EIF1BEIF2S1EIF2S2EIF2S3EIF3BEIF3CLEIF3GEIF3IEIF3JEIF5SLTMUBCB5ME19O60739O75319O75821O75822P05198P0CG48P20042P41091P55010P55884Q13347Q14093Q9NP58Q9NWH91:1:1:1:1:1:1:1:1:1:1:1:1:1:1NetworkBlastCompleatCompleat:HC5926
ABCB6MTHFD1NEMFPA2G4RPL11RPL18RPL26L1RPL36RPL8RPLP0RPLP2UBCO60524P05387P05388P0CG48P11586P62913P62917Q07020Q9NP58Q9UNX3Q9UQ80Q9Y3U81:1:1:1:1:1:1:1:1:1:1:1NetworkBlastCompleatCompleat:HC4244
ABCB6BAK1NIPBLSFXN1TIMM50TOMM20TOMM22TOMM40TOMM7TOMM70O94826O96008Q15388Q16611Q3ZCQ8Q6KC79Q9H9B4Q9NP58Q9NS69Q9P0U10:0:0:0:0:0:0:0:0:0Havugimana2012Havugimana2012:C_591
ABCB6MRAP2SLC25A38TEX2Q8IWB9Q96DW6Q96G30Q9NP580:0:0:0hu.MAP2
ABCB6Q9NP582PDBPDB:7ekmPDB:8k7bPDB:7eklPDB:7dnzPDB:7d7rPDB:7d7nPDB:9dbqPDB:8yr4PDB:7dnyPDB:8fwkPDB:8yr3PDB:8k7c

Isolation & Detection Technology

1 record.

EV Isolation MethodDetection MethodNumber of ReferencesReferences
Differential UltracentrifugationMass spectrometry23180595838207106
Sequence, Structure & Domains

Sequences

Length
842
Mass
93,886
Sequence
MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGADSLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAPLPSYLLLASVLESLAGACGLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAAENLALVSWNSPQWWWARADLGQQVQFSLWVLRYVVSGGLFVLGLWAPGLRPQSYTLQVHEEDQDVERSQVRSAAQQSTWRDFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLKFLQGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRWHLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLCMSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAIIKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQLYMPLNWFGTYYRMIQTNFIDMENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYADGRETLQDVSFTVMPGQTLALVGPSGAGKSTILRLLFRFYDISSGCIRIDGQDISQVTQASLRSHIGVVPQDTVLFNDTIADNIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQVGERGLKLSGGEKQRVAIARTILKAPGIILLDEATSALDTSNERAIQASLAKVCANRTTIVVAHRLSTVVNADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTMER
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP58-1; Sequence=Displayed; Name=2; IsoId=Q9NP58-4; Sequence=VSP_021973
Alternative Sequence
183..228; Missing (in isoform 2)

3D Structural Models

Turn
725..727
Helix
238..253; 259..294; 299..316; 325..355; 358..363; 366..389; 391..408; 411..458; 460..466; 469..521; 527..541; 542..546; 547..549; 561..572; 628..636; 654..656; 659..664; 680..685; 693..702; 706..711; 715..717; 722..724; 729..743; 759..773; 785..789; 808..814; 817..826
Beta Strand
319..322; 590..600; 601..603; 604..613; 618..625; 643..649; 666..669; 677..679; 689..691; 712..714; 719..721; 746..751; 753..757; 776..781; 792..798; 801..806
3D Structure
Electron microscopy (12); X-ray crystallography (4)

Domain & Motif Annotations

Domain (CC)
Contains two independently folding units, the N-terminal transmembrane domain (residues 1-205) and the ABC-core domain (206-842) are respectively responsible for the lysosomal targeting and the ATPase activity.
Domain (FT)
265..556; ABC transmembrane type-1; 590..824; ABC transporter
Region
1..236; Required for ATPase activity; 1..205; Required for the lysosomal targeting
Protein Families
  • ABC transporter superfamily
  • ABCB family
  • Heavy Metal importer (TC 3.A.1.210) subfamily
Sequence Similarities
Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
Clinical Relevance
Disease Involvement
Disease variantDyskeratosis congenitaMicrophthalmia
Antibody
HPA046723HPA058011