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 | EVMP confidence score 0.53 |
Supporting publications (n) 1 | Transmembrane count 11 | Protein classification Disease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted membrane proteinsTransporters |
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.70High >= 0.60Medium >= 0.40Low >= 0.30Basic 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 (7)
Disease related genesEnzymesHuman disease related genesMetabolic proteinsPotential drug targetsPredicted membrane proteinsTransporters
Protein Function (8)
- 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
Entrez Gene Symbol
Gene Synonym (3)
EST45597MTABC3umat
Gene Description
ATP binding cassette subfamily B member 6 (Langereis blood group)
Chromosome
2
Position
219209772-219218994
Supporting publications (n)
1
EVMP confidence score
0.53
Fluorescence & Localization
Tissue SpecificbrainCell SpecificBrain excitatory neuronsBlood Cell SpecificgdT-cellBlood Lineage SpecificB-cells
Function & Pathway
Protein Function (8)
- 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 (19)
- GO:0000139 Golgi membrane
- GO:0005654 nucleoplasm
- GO:0005739 mitochondrion
- GO:0005740 mitochondrial envelope
- GO:0005741 mitochondrial outer membrane
- GO:0005765 lysosomal membrane
- GO:0005768 endosome
- GO:0005774 vacuolar membrane
- GO:0005783 endoplasmic reticulum
- GO:0005789 endoplasmic reticulum membrane
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Molecular Function (7)
Biological Process (3)
Reactome (4)
Canonical Pathways
M174 Pid upa upar pathway
Mediation Categories (3)
Clinical-translation mediationFusion and delivery mediationMetabolism mediation
Relations & Evidence27
Ligand-Receptor Signaling (21)
21 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| transmembrane | transmembrane_predicted | Phobius | Yes |
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Protein Complex Composition (5)
5 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| ABCB6CYLC2DUSP11EIF1BEIF2S1EIF2S2EIF2S3EIF3BEIF3CLEIF3GEIF3IEIF3JEIF5SLTMUBC | B5ME19O60739O75319O75821O75822P05198P0CG48P20042P41091P55010P55884Q13347Q14093Q9NP58Q9NWH9 | 1:1:1:1:1:1:1:1:1:1:1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC5926 | ||
| ABCB6MTHFD1NEMFPA2G4RPL11RPL18RPL26L1RPL36RPL8RPLP0RPLP2UBC | O60524P05387P05388P0CG48P11586P62913P62917Q07020Q9NP58Q9UNX3Q9UQ80Q9Y3U8 | 1:1:1:1:1:1:1:1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC4244 | ||
| ABCB6BAK1NIPBLSFXN1TIMM50TOMM20TOMM22TOMM40TOMM7TOMM70 | O94826O96008Q15388Q16611Q3ZCQ8Q6KC79Q9H9B4Q9NP58Q9NS69Q9P0U1 | 0:0:0:0:0:0:0:0:0:0 | Havugimana2012 | Havugimana2012:C_591 | ||
| ABCB6MRAP2SLC25A38TEX2 | Q8IWB9Q96DW6Q96G30Q9NP58 | 0:0:0:0 | hu.MAP2 | |||
| ABCB6 | Q9NP58 | 2 | PDB | PDB:7ekmPDB:8k7bPDB:7eklPDB:7dnzPDB:7d7rPDB:7d7nPDB:9dbqPDB:8yr4PDB:7dnyPDB:8fwkPDB:8yr3PDB:8k7c |
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 (3)
- 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 (3)
Disease variantDyskeratosis congenitaMicrophthalmia
Related Diseases (2)
Supporting Publications1
| PMID | Title | Related sentences |
|---|---|---|
| 32916986 | Proteomic Approach for Searching for Universal, Tissue-Specific, and Line-Specific Markers of Extracellular Vesicles in Lung and Colorectal Adenocarcinoma Cell Lines. | No related sentences available |