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ABCB5 Gene

protein-coding   GIFtS: 49

GC07P020653
ATP-binding cassette, sub-family B (MDR/TAP), member 5
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ABCB5alpha 1, 2
ABCB5beta 1, 2
EST422562 1, 2
Descriptions
ABCB5 P-gp 3
ATP-binding cassette protein 2
ATP-binding cassette, sub-family B (MDR/TAP), member 5 2
ATP-binding cassette, sub-family B, member 5 2
P-glycoprotein ABCB5 2, 3
External Ids
HGNC: 461
Entrez Gene: 3402732
UniProtKB: Q2M3G03
Ensembl: ENSG000000048467
Search outside databases for aliases for ABCB5 gene

Previous GC identifers: GC07U990157 GC07P020328 GC07P020431 GC07P020412 GC07P020460

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for ABCB5:
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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABCB5 gene  

Entrez Gene cytogenetic band: 7p15.3   Ensembl cytogenetic band:  7p15.3   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)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P020653:     (about GC identifiers)

Start:
20,621,355 bp from pter
End:
20,763,157 bp from pter
Size:
141,803 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 20,738,553-20,846,586     
RefSeq DNA sequence:
NC_000007.12  NT_007819.16  NT_079592.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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; 89831 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
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
Secondary accessions: A4D131 Q2M3I5 Q5I5Q7 Q5I5Q8 Q6KG50 Q6XFQ5 Q8IXA1
Alternative splicing: 2 isoforms:  Q2M3G0-1   Q2M3G0-2   

REFSEQ proteins: NP_848654.3  

ENSEMBL proteins: 
ENSP00000383899 ENSP00000258738 ENSP00000376217 ENSP00000385417 ENSP00000384881 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (ABCB5)
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005886 plasma membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for ABCB5: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (ABCB5), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (ABCB5)
Novus Biologicals Antibodies for ABCB5

Assays for ABCB5: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro domains/families:
 IPR003593 ATPase_AAA+_core
 IPR003439 ABC_transporter-like
 IPR017940 ABC_transporter_type1
 IPR001140 ABC_TM_transpt
 IPR017871 ABC_transporter_CS


   GeneDecks  ABCB5 for the domains selected above  
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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 family. Multidrug resistance exporter (TC 3.A.1.201)
subfamily
Similarity: Contains 1 ABC transmembrane type-1 domain
Similarity: Contains 2 ABC transporter domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ABCB5)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCB5)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_178559

              Applied Biosystems Silencer® siRNAs for ABCB5

              Sigma-Aldrich siRNA and siRNA Panels for ABCB5  
                     Sigma-Aldrich shRNA for ABCB5  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_178559
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_178559
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_178559 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_178559

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

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

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0005524 ATP binding IEA--
GO:0016887 ATPase activity IEA--
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


1 Kegg Pathway  (Kegg details for ABCB5):
 hsa02010 ABC transporters

   GeneDecks  ABCB5 for the pathways selected above  
About GeneDecksing

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ABCB5

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ABCB5)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCB5)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_178559

              Sigma-Aldrich siRNA and siRNA Panels for ABCB5  
                     Sigma-Aldrich shRNA for ABCB5  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_178559  

REFSEQ mRNAs for ABCB5 gene: 

NM_178559.4   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_178559  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_178559
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_178559
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_178559 

Additional cDNA 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 CR595059.1 
U66692.1 

9 DOTS entries:

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

24/29 AceView cDNA sequences (see all 29 ):

H98200 AK127141 AL040762 AY234788 AY090613 AA243820 AF399931 BX452500 
NM_178559 CR595059 AI289916 N43802 BX537763 BM926413 AF319622 AL040717 
BM471690 BM013981 AL040763 BC044248 BX463401 BM016204 U66692 N24315 

highest scoring ESTs for ABCB5:

AK127141 AF319622 AF399931 AY090613 AY234788 AA243820 AI289916 AL040762 AL040763 BC044248 

Unigene Cluster for ABCB5:

ATP-binding cassette, sub-family B (MDR/TAP), member 5
Hs.658821  [show with all ESTs]
Unigene Representative Sequence: AY230001


GeneLoc Exon Structure

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

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:              -                                                                                                                                 

About this scheme

ECgene alternative splicing isoforms for ABCB5

5 Ensembl transcripts including schematic representations:
ENST00000406935  ENST00000258738  ENST00000392419  ENST00000402177  ENST00000404938  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ABCB5 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ABCB5

1 / 2 / 3

6 probe-sets matching ABCB5 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

57601_at2, 3 U95-C 1 1.00 1.00 0.72 1.11 AL040763 0.60 1.00 0.82 1

44469_r_at2, 3 U95-B 1 1.00 1.00 0.85 0.90 H99394 0.20 1.00 0.72 1

243167_at2, 3 U133-B 2 1.00 0.95 -- -- AL040763 0.60 1.00 0.82 1

1555371_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1569072_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

243167_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.658821

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for ABCB5 gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ABCB51   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 87.31(n)
85.04(a)
482344  XM_539461.2  XP_539461.2 
chimpanzee
(Pan troglodytes)
ABCB51   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 98.77(n)
98.4(a)
743269  XM_001152831.1  XP_001152831.1 
rat
(Rattus norvegicus)
Abcb51   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 80.79(n)
78.93(a)
314537  XM_234725.4  XP_234725.4 
mouse
(Mus musculus)
Abcb51, 5 125
ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 81.73(n)1
78.77(a)1
777061  XM_001002680.21  XP_001002680.21 
 AK0203185  AK1398325  (see all 7)
thale cress
(Arabidopsis thaliana)
PGP141   -- PGP14 (P-GLYCOPROTEIN 14); ATPase, coupled to transmembrane more 49.13(n)
41.27(a)
839694  NM_102566.2  NP_174122.1 
About this table        Species with no ortholog for ABCB5

ENSEMBL Gene Tree for ABCB5
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ABCB5 gene
ABCB12  ABCB42  ABCB112  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/869 NCBI SNPs in ABCB5 are shown (see all 869 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 281)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs18589481,2
A,C,F,H,O20652636(+) GACGGA/CGTTCT 1 -- ng5116Minor allele frequency- N:0.00MN EU EA WA NA 1510
rs20740001,2
C,F,H,O20652009(+) GGGCCC/AAGGAG 1 -- ng5112Minor allele frequency- A:0.39EA EU WA NA 2450
rs23016411,2
C,F,H,O20664795(+) AAAGCA/GAGTCA 1 K/E mis116Minor allele frequency- G:0.29EA NA EU WA 2828
rs28930061,2
C,F,H,O20653706(+) CATAGC/TAGTTA 1 -- ng51 ese37Minor allele frequency- T:0.19EU EA WA NA 558
rs119833261,2
A,C,F,H20652033(+) GGTCTT/GTCCTT 1 -- ng51 trp37Minor allele frequency- G:0.30NA EU EA WA 548
rs64615151,2
A,C,F,H20745171(+) TCGGAA/GAAACG 1 E/K mis1 ese313Minor allele frequency- G:0.19EU EA WA NA 1118
rs7568851,2
A,C,F,H20653435(+) TAATCA/GAAAGT 1 -- ng514Minor allele frequency- G:0.09EU EA WA 420
rs117692361,2
A,C,F,H20652311(+) AAGGTG/ATCAGG 1 -- ng514Minor allele frequency- A:0.18EU EA WA 420
rs171433041,2
C,F,H20734479(+) AGAAAG/ACACAG 1 T/A mis116Minor allele frequency- A:0.07NA EU EA WA 1438
rs171432211,2
C,F,H20652668(+) TTCTCT/CCTGGA 1 -- ng51 trp311Minor allele frequency- C:0.02NA EU EA WA 978
About this table

HapMap Linkage Disequilibrium images for ABCB5 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 611785

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/12 PubMed articles for ABCB5 gene (see all 12 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 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, and/or H-InvDB)
About This Section

Entrez Gene: 340273 HGNC: 46 AceView: ABCB5 Ensembl:ENSG00000004846 euGenes: HUgn340273
ECgene: ABCB5 H-InvDB: ABCB5
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for ABCB5:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
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 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for ABCB5 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ABCB5 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Antibodies for ABCB5

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