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ABCB5 Gene

protein-coding   GIFtS: 61
GCID: GC07P020653

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 5

  Search for ABCB5
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 51 2     ABCB5beta2
P-Glycoprotein ABCB51 2 3     EST4225622
ATP-Binding Cassette Protein1 2     ATP-Binding Cassette Sub-Family B Member 52
ABCB5 P-Gp2 3     EC 3.6.38
ABCB5alpha2     EC 3.6.3.448

External Ids:    HGNC: 461   Entrez Gene: 3402732   Ensembl: ENSG000000048467   OMIM: 6117855   UniProtKB: Q2M3G03   

Export aliases for ABCB5 gene to outside databases

Previous GC identifers: GC07U990157 GC07P020328 GC07P020431 GC07P020412 GC07P020460 GC07P020544


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCB5 Gene:
ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These
proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from
small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 (PubMed
15760339)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ABCB5 Gene:
ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5) is a protein-coding gene. GO annotations related to this gene include efflux transmembrane transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB1.

UniProtKB/Swiss-Prot: ABCB5_HUMAN, Q2M3G0
Function: Plasma membrane transporter able to mediate efflux from cells of the rhodamine dye and of the
therapeutic drug doxorubicin. Responsible for the resistance to doxorubicin of a subset of malignant melanomas

summary for ABCB5 Gene:
P-glycoprotein (ABCB1, MDR1) is a well-characterized human ABC transporter that was the first ABC
transporter implicated in multidrug resistance. Normal physiological expression of P-glycoprotein has been
found to prevent uptake of some lipophilic drugs into the brain and other key organs. P-glycoprotein is
frequently overexpressed in cancer cells resulting in drugs being pumped out of the cells faster than they
can enter. This causes a lower concentration of the drug in the cell and reduces the effectiveness of the
drugs in killing cancer cells. Drugs that are affected by classical multidrug resistance include the vinca
alkaloids (vinblastine and vincristine), the anthracyclines (doxorubicin and daunorubicin), the RNA
transcription inhibitor actinomycin D and the microtubule-stabilizing drug taxol.

Gene Wiki entry for ABCB5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCB5 gene promoter:
         Nkx3-1   TBP   Nkx3-1 v4   Nkx3-1 v1   Nkx2-5   HNF-3beta   YY1   Nkx3-1 v2   Nkx3-1 v3   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCB5 promoter sequence
   Search Chromatin IP Primers for ABCB5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCB5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p21.1   Ensembl cytogenetic band:  7p21.1   HGNC cytogenetic band: 7p14

ABCB5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P020653:  view genomic region     (about GC identifiers)

Start:
20,654,830 bp from pter      End:
20,816,658 bp from pter
Size:
161,829 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 20,706,592-20,847,927     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ABCB5_HUMAN, Q2M3G0 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 5  
Size: 812 amino acids; 89832 Da
Miscellaneous: Depletion of ABCB5 by RNAi increases the sensitivity to several drugs of a subset of melanoma cells
Caution: Was named ABCB1 by some authors
Sequence caution: Sequence=AAN76500.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAQ03033.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A4D131 A7BKA4 B5MD19 B7WPL1 F8QQP8 J3KQ04 Q2M3I5 Q5I5Q7 Q5I5Q8 Q6KG50
Q6XFQ5 Q8IXA1
Alternative splicing: 4 isoforms:  Q2M3G0-1   Q2M3G0-2   Q2M3G0-3   Q2M3G0-4   (Contains 1 extra ABC transmembrane type-1 domain)

Explore the universe of human proteins at neXtProt for ABCB5: NX_Q2M3G0

Explore proteomics data for ABCB5 at MOPED

Selected DME Specific Peptides for ABCB5 (Q2M3G0) (see all 8)
 AHRLSTI  KILLLDE  QRIAIARA  PKILILDE 


See ABCB5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_001157413.1  NP_001157414.1  NP_001157465.1  NP_848654.3  

ENSEMBL proteins: 
 ENSP00000384881   ENSP00000406730   ENSP00000383899   ENSP00000258738   ENSP00000398692  
Reactome Protein details: Q2M3G0

ABCB5 Human Recombinant Protein Products:

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Novus Biologicals ABCB5 Protein
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Browse Sino Biological Cell Lysates
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Cloud-Clone Corp. Proteins for ABCB5

 
Search eBioscience for Proteins for ABCB5 

ABCB5 Antibody Products:

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Novus Biologicals ABCB5 Antibodies
Abcam antibodies for ABCB5
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ThermoFisher Antibody for ABCB5
LSBio Antibodies in human, mouse, rat for ABCB5

ABCB5 Assay Products:

Browse Kits and Assays available from EMD Millipore
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Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for ABCB5
Cloud-Clone Corp. CLIAs for ABCB5
Search eBioscience for ELISAs for ABCB5 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ABCB: ATP binding cassette transporters / subfamily B

IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB5
ABCB subfamily

Selected InterPro protein domains (see all 6):
 IPR003439 ABC_transporter-like
 IPR027417 P-loop_NTPase
 IPR001140 ABC_transptr_TM_dom
 IPR003593 AAA+_ATPase
 IPR011527 ABC1_TM_dom

Graphical View of Domain Structure for InterPro Entry Q2M3G0

ProtoNet protein and cluster: Q2M3G0

UniProtKB/Swiss-Prot: ABCB5_HUMAN, Q2M3G0
Similarity: Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201)
subfamily
Similarity: Contains 1 ABC transmembrane type-1 domain
Similarity: Contains 2 ABC transporter domains


Find genes that share domains with ABCB5           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ABCB5_HUMAN, Q2M3G0
Function: Plasma membrane transporter able to mediate efflux from cells of the rhodamine dye and of the
therapeutic drug doxorubicin. Responsible for the resistance to doxorubicin of a subset of malignant melanomas

     Genatlas biochemistry entry for ABCB5:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 5,ubiquitously expressed

     Enzyme Numbers (IUBMB): EC 3.6.3.442 EC 3.6.32

     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000166nucleotide binding ----
GO:0005524ATP binding IEA--
GO:0015562efflux transmembrane transporter activity IDA12960149
GO:0016887ATPase activity ----
GO:0017111nucleoside-triphosphatase activity ----
     
Find genes that share ontologies with ABCB5           About GenesLikeMe


Phenotypes:
     3 GenomeRNAi human phenotypes for ABCB5:
 Increased Salmonella enterica   Increased viability after born  Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCB5
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCB5

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCB5
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCB5

miRNA
Products:
    
miRTarBase miRNAs that target ABCB5:
hsa-mir-1 (MIRT023509)

Block miRNA regulation of human, mouse, rat ABCB5 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate ABCB5 (see all 11):
hsa-miR-577 hsa-miR-3650 hsa-miR-522 hsa-miR-4282 hsa-miR-224* hsa-miR-33a hsa-miR-4316 hsa-miR-633
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ABCB5
Predesigned siRNA for gene silencing in human, mouse, rat ABCB5

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for ABCB5

Clone
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OriGene clones in human, mouse for ABCB5 (see all 22)
OriGene ORF clones in mouse, rat for ABCB5
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): ABCB5 (NM_178559)
Sino Biological Human cDNA Clone for ABCB5
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCB5
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB5

Cell Line
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GenScript Custom overexpressing Cell Line Services for ABCB5
Browse ESI BIO Cell Lines and PureStem Progenitors for ABCB5 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB5


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
ABCB5_HUMAN, Q2M3G0: Cell membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
golgi apparatus3
cytosol1
endoplasmic reticulum1
mitochondrion1
nucleus1
peroxisome1

Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000139Golgi membrane IBA--
GO:0005886plasma membrane TAS--
GO:0005887integral component of plasma membrane IDA12960149
GO:0016021integral component of membrane ----
GO:0016324apical plasma membrane IBA--

Find genes that share ontologies with ABCB5           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ABCB5 About    
See pathways by source

SuperPathContained pathways About
1ABC-family proteins mediated transport
ABC-family proteins mediated transport0.69
ABC transporters0.69
2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
Transmembrane transport of small molecules0.47


Find genes that share SuperPaths with ABCB5           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Reactome Pathway for ABCB5
    ABC-family proteins mediated transport


1 Kegg Pathway  (Kegg details for ABCB5):
    ABC transporters

    Pathway & Disease-focused RT2 Profiler PCR Array including ABCB5: 
          Drug Transporters in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for ABCB5

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for ABCB5 (Q2M3G03 ENSP000002587384) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
InteractantInteraction Details
GeneCardExternal ID(s)
PSMB5P280743, ENSP000003553254I2D: score=1 STRING: ENSP00000355325
ENSG00000239836ENSP000003968134STRING: ENSP00000396813
LSM5ENSP000004107584STRING: ENSP00000410758
PSMB2ENSP000003623344STRING: ENSP00000362334
PSMD2ENSP000003101294STRING: ENSP00000310129
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport ----
GO:0042391regulation of membrane potential IDA12960149
GO:0055085transmembrane transport TAS--

Find genes that share ontologies with ABCB5           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for ABCB5 available from Tocris Bioscience    About this table
CompoundAction CAS #
PSC 833Inhibitor of P-gp-mediated MDR[121584-18-7]
XR 9051 HClPotent modulator of P-gp-mediated MDR[180422-22-4]
Ko 143Potent and selective BCRP inhibitor[461054-93-3]
ProbenecidMRP inhibitor[57-66-9]
Elacridar hydrochlorideP-gp inhibitor[143851-98-3]



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ABCB5 gene (4 alternative transcripts): 
NM_001163941.1  NM_001163942.1  NM_001163993.2  NM_178559.5  

Unigene Cluster for ABCB5:

ATP-binding cassette, sub-family B (MDR/TAP), member 5
Hs.404102  [show with all ESTs]
Unigene Representative Sequence: NM_001163941
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000404938(uc010kuh.3 uc003suw.4) ENST00000477094 ENST00000443026(uc003suv.4)
ENST00000406935(uc011jyi.1) ENST00000258738(uc003sux.1) ENST00000441315

miRNA
Products:
     
Block miRNA regulation of human, mouse, rat ABCB5 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate ABCB5 (see all 11):
hsa-miR-577 hsa-miR-3650 hsa-miR-522 hsa-miR-4282 hsa-miR-224* hsa-miR-33a hsa-miR-4316 hsa-miR-633
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for ABCB5
Predesigned siRNA for gene silencing in human, mouse, rat ABCB5
Clone
Products:
     
OriGene clones in human, mouse for ABCB5 (see all 22)
OriGene ORF clones in mouse, rat for ABCB5
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): ABCB5 (NM_178559)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCB5
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB5
Primer
Products:
    
OriGene qPCR primer pairs and template standards for ABCB5
OriGene qSTAR qPCR primer pairs in human, mouse for ABCB5
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCB5
  QuantiTect SYBR Green Assays in human, mouse, rat ABCB5
  QuantiFast Probe-based Assays in human, mouse, rat ABCB5

Additional mRNA sequence: 

AB353947.1 AF319622.1 AF399931.1 AK127141.1 AY090613.1 AY230001.1 AY234788.1 AY785909.1 
AY851364.1 AY851365.1 BC044248.1 BC104894.1 BC104920.1 BC110370.1 BX537763.1 GU437216.1 
GU437217.1 U66692.1 

10 DOTS entries:

DT.99941473  DT.320703  DT.108191  DT.121059155  DT.121059165  DT.101958082  DT.108190  DT.101970870 
DT.201506  DT.40307081 

Selected AceView cDNA sequences (see all 29):

AY234788 NM_178559 CR595059 AL040762 H98200 AF399931 AY090613 AA243820 
BX452500 AK127141 AF319622 N43802 AI289916 BM016204 AL040717 BM013981 
BM926413 BX463401 BC044248 BX537763 BM471690 AL040763 U66692 H98201 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB5    About this scheme

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1:                                            -           -                                                                                       
SP2:                                            -                                                                                                   
SP3:              -                                                                                                                                 


ECgene alternative splicing isoforms for ABCB5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ABCB5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ABCB5 Expression
About this image

ABCB5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ABCB5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.404102

UniProtKB/Swiss-Prot: ABCB5_HUMAN, Q2M3G0
Tissue specificity: Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level).
Widely expressed with specific expression in pigment cells. Also expressed in several malignant tissues

    Pathway & Disease-focused RT2 Profiler PCR Array including ABCB5: 
          Drug Transporters in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for ABCB5
OriGene qSTAR qPCR primer pairs in human, mouse for ABCB5
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCB5
QuantiTect SYBR Green Assays in human, mouse, rat ABCB5
QuantiFast Probe-based Assays in human, mouse, rat ABCB5
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB5

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB5 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Abcb51 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 82.32(n)1
78.23(a)1
  12 (63.48 cM)5
777061  NM_029961.21  NP_084237.11 
 1188678245 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
50(a)
many ↔ many
2(30202575-30240482)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
49(a)
many ↔ many
6(29308520-29374378)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004859691 multidrug resistance protein 1-like 64.56(n)
61.2(a)
  100485969  XM_002932398.2  XP_002932444.2 
zebrafish
(Danio rerio)
Actinopterygii abcb56
ATP-binding cassette, sub-family B (MDR/TAP), memb...
47(a)
many ↔ many
16(21497823-21525694) ENSDARG00000021787
fruit fly
(Drosophila melanogaster)
Insecta Mdr496
Mdr506
(see all 4)
Multi drug resistance 50
(see all 4)
39(a)
38(a)
(see all 4)
many ↔ many
many ↔ many
(see all 4)
2R(8827828-8833850)
2R(10134471-10140102)
worm
(Caenorhabditis elegans)
Secernentea pgp-96
pgp-36
(see all 11)
Protein PGP-3 (pgp-3) mRNA, complete cds
(see all 11)
41(a)
37(a)
(see all 11)
many ↔ many
many ↔ many
(see all 11)
V(17755897-17764751) WBGene00004003
X(11352136-11357090) WBGene00003997
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE66
Plasma membrane ATP-binding cassette (ABC) transpo...
25(a)
1 → many
XI(42423-46295) YKL209C
thale cress
(Arabidopsis thaliana)
eudicotyledons PGP131 PGP13 49.33(n)
39.43(a)
  839687  NM_102559.1  NP_174115.1 
rice
(Oryza sativa)
Liliopsida Os.416372 Oryza sativa (japonica cultivar-group) putative multidrug more 72.04(n)    NM_192183.1 


ENSEMBL Gene Tree for ABCB5 (if available)
TreeFam Gene Tree for ABCB5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ABCB5 gene
ABCB12  ABCB42  ABCB112  
16 SIMAP similar genes for ABCB5 using alignment to 4 protein entries:     ABCB5_HUMAN (see all proteins):
TAP1    ABCB1    MDR3    ABCB4    ABCB11    NG-TRA
MDR1    ABCC10    DKFZp434I2115    CFTR    ABCB10    TAP2-G
TAP2    ABCB8    LOC402251    ABCG2

Find genes that share paralogs with ABCB5           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ABCB5 (see all 3828)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0357314
A colorectal cancer sample4--see VAR_0357312 E V mis40--------
VAR_0626624
A pancreatic ductal adenocarcinoma sample4--see VAR_0626622 A T mis40--------
rs783452021,2
C,F--20653245(+) ACCCAA/GATAGA 1 -- us2k12Minor allele frequency- G:0.26CSA WA 120
rs126667321,2
C,F,H--20653253(+) agataT/Cttttt 1 -- us2k111Minor allele frequency- C:0.24NS EA NA 1432
rs1141216941,2
F--20653406(+) CAGGGG/ATATGG 1 -- us2k11Minor allele frequency- A:0.05WA 118
rs1479511331,2
--20653408(+) GGGGTA/GTGGAA 1 -- us2k10--------
rs762847671,2
C,F--20653478(+) AGCATC/GAAGTT 1 -- us2k13Minor allele frequency- G:0.06NA 124
rs1819431801,2
--20653509(+) GAATTG/TCCATC 1 -- us2k10--------
rs603052841,2
C,F--20653511(+) ATTGCC/TATCTG 1 -- us2k11Minor allele frequency- T:0.45EA 120
rs750428631,2
F--20653711(+) TTTGTC/TATTTG 1 -- us2k11Minor allele frequency- T:0.02WA 118

HapMap Linkage Disequilibrium report for ABCB5 (20654830 - 20816658 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for ABCB5 (see all 24):    About this table    
Variant IDTypeSubtypePubMed ID
esv2734108CNV Deletion23290073
esv2654247CNV Deletion19546169
esv2734109CNV Deletion23290073
esv2734107CNV Deletion23290073
esv2306944CNV Deletion18987734
esv2734105CNV Deletion23290073
dgv1187e199CNV Deletion23128226
esv2663031CNV Deletion23128226
esv1003420CNV Deletion20482838
esv2668344CNV Deletion23128226

Human Gene Mutation Database (HGMD): ABCB5
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ABCB5
DNA2.0 Custom Variant and Variant Library Synthesis for ABCB5

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611785    OMIM disorders: --

1 disease from the University of Copenhagen DISEASES database for ABCB5:
Melanoma

Find genes that share disorders with ABCB5           About GenesLikeMe

Genetic Association Database (GAD): ABCB5
Human Genome Epidemiology (HuGE) Navigator: ABCB5 (1 document)

Export disorders for ABCB5 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ABCB5 gene, integrated from 10 sources (see all 34):
(articles sorted by number of sources associating them with ABCB5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter. (PubMed id 12960149)1, 2, 3 Frank N.Y.... Frank M.H. (J. Biol. Chem. 2003)
  2. Expression of human ABCB5 confers resistance to taxanes and anthracyclines. (PubMed id 22306008)1, 2 Kawanobe T.... Sugimoto Y. (Biochem. Biophys. Res. Commun. 2012)
  3. ABCB5 identifies a therapy-refractory tumor cell population in colorectal cancer patients. (PubMed id 21652540)1, 2 Wilson B.J.... Frank N.Y. (Cancer Res. 2011)
  4. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (PubMed id 20950786)1, 4 Glessner J.T....Grant S.F. (Am. J. Hum. Genet. 2010)
  5. Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes. (PubMed id 15760339)1, 2 Chen K.G....Gottesman M.M. (Pigment Cell Res. 2005)
  6. ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma. (PubMed id 15899824)1, 2 Frank N.Y.... Frank M.H. (Cancer Res. 2005)
  7. Membrane transporters and channels: role of the transportome in cancer chemosensitivity and chemoresistance. (PubMed id 15205344)1, 2 Huang Y.... Sadee W. (Cancer Res. 2004)
  8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
  10. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PubMed id 8894702)1, 3 Allikmets R....Dean M. (Hum. Mol. Genet. 1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 340273 HGNC: 46 AceView: ABCB5 Ensembl:ENSG00000004846 euGenes: HUgn340273
ECgene: ABCB5 Kegg: 340273 H-InvDB: ABCB5

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ABCB5 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ABCB5 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ABCB5 gene:
Search GeneIP for patents involving ABCB5

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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