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ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5)

Written2009-07Xiang Jiao, Tobias Sjöblom
Department of Genetics, Pathology, Uppsala University, Uppsala, Sweden

(Note : for Links provided by Atlas : click)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)EST422562
ABCB5beta
ABCB5alpha
HGNC (Hugo) ABCB5
LocusID (NCBI) 340273
Atlas_Id 44305
Location 7p21.1  [Link to chromosome band 7p21]
Location_base_pair Starts at 20655245 and ends at 20796637 bp from pter ( according to hg19-Feb_2009)  [Mapping ABCB5.png]
Fusion genes
(updated 2016)
FUK (16q22.1) / ABCB5 (7p21.1)NF1 (17q11.2) / ABCB5 (7p21.1)

DNA/RNA

 
  ABCB5 gene on chromosome 7p.
Description The gene encompasses 108081 bp of DNA with 19 exons.
Transcription ABCB5 encodes a 2784 bp mRNA. The coding region consists of exon 4-19, while exon 1-3 and 3' part of exon 19 are non-coding.

Protein

Description Only 2 isoforms, ABCB5alpha and ABCB5beta have been studied so far. ABCB5 P-gp (isoform 1, also known as ABCB5beta) contains 812 amino acids (P-gp is short for "permeability glycoprotein"). ABCB5alpha contains only 131 amino acids.
Expression ABCB5 is reported to be expressed in many different tissues, including brain, intestine, kidney, mammary gland, testis and skin. Besides, ABCB5 has a significantly higher expression level in malignant melanomas than in benign melanocytes.
Localisation ABCB5 P-gp is located in the plasma membrane, with 5 transmembrane helices flanked by both extracellular and intracellular ATP-binding domains.
Function 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. ABCB5 mediates melanoma doxorubicin resistance via its function as a doxorubicin efflux transporter. In addition, ABCB5 P-gp can regulate progenitor cell fusion. However, ABCB5alpha alone may be non-functional.
Homology ABCB5 shares 54% and 56% amino acid identity with ABCB1 and ABCB4, respectively.

Implicated in

Note
Entity Malignant melanoma
Note Tissue microarray showed that primary and metastatic malignant melanomas expressed significantly more ABCB5 protein than benign melanocytic nevi, thick primary melanomas more than thin primary melanomas, and melanomas metastatic to lymph nodes more than primary lesions. Melanoma cell subpopulations identified by expression of ABCB5 were enriched for human malignant-melanoma-initiating cells (MMIC). Besides, ABCB5 also mediates chemoresistance in human malignant melanoma.
  
Entity Chemoresistance in human malignant melanoma
Oncogenesis ABCB5 P-gp mediates melanoma doxorubicin resistance via its function as a doxorubicin efflux transporter.
  

Bibliography

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.
Chen KG, Szakacs G, Annereau JP, Rouzaud F, Liang XJ, Valencia JC, Nagineni CN, Hooks JJ, Hearing VJ, Gottesman MM.
Pigment Cell Res. 2005 Apr;18(2):102-12.
PMID 15760339
 
The human ATP-binding cassette (ABC) transporter superfamily.
Dean M, Rzhetsky A, Allikmets R.
Genome Res. 2001 Jul;11(7):1156-66.
PMID 11435397
 
ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma.
Frank NY, Margaryan A, Huang Y, Schatton T, Waaga-Gasser AM, Gasser M, Sayegh MH, Sadee W, Frank MH.
Cancer Res. 2005 May 15;65(10):4320-33.
PMID 15899824
 
Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter.
Frank NY, Pendse SS, Lapchak PH, Margaryan A, Shlain D, Doeing C, Sayegh MH, Frank MH.
J Biol Chem. 2003 Nov 21;278(47):47156-65. Epub 2003 Sep 7.
PMID 12960149
 
Identification of cells initiating human melanomas.
Schatton T, Murphy GF, Frank NY, Yamaura K, Waaga-Gasser AM, Gasser M, Zhan Q, Jordan S, Duncan LM, Weishaupt C, Fuhlbrigge RC, Kupper TS, Sayegh MH, Frank MH.
Nature. 2008 Jan 17;451(7176):345-9.
PMID 18202660
 

Citation

This paper should be referenced as such :
Jiao, X ; Sjöblom, T
ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(6):525-526.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ABCB5ID44305ch7p15.html


External links

Nomenclature
HGNC (Hugo)ABCB5   46
Cards
AtlasABCB5ID44305ch7p15
Entrez_Gene (NCBI)ABCB5  340273  ATP binding cassette subfamily B member 5
AliasesABCB5alpha; ABCB5beta; EST422562
GeneCards (Weizmann)ABCB5
Ensembl hg19 (Hinxton)ENSG00000004846 [Gene_View]  chr7:20655245-20796637 [Contig_View]  ABCB5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000004846 [Gene_View]  chr7:20655245-20796637 [Contig_View]  ABCB5 [Vega]
ICGC DataPortalENSG00000004846
TCGA cBioPortalABCB5
AceView (NCBI)ABCB5
Genatlas (Paris)ABCB5
WikiGenes340273
SOURCE (Princeton)ABCB5
Genetics Home Reference (NIH)ABCB5
Genomic and cartography
GoldenPath hg19 (UCSC)ABCB5  -     chr7:20655245-20796637 +  7p14   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCB5  -     7p14   [Description]    (hg38-Dec_2013)
EnsemblABCB5 - 7p14 [CytoView hg19]  ABCB5 - 7p14 [CytoView hg38]
Mapping of homologs : NCBIABCB5 [Mapview hg19]  ABCB5 [Mapview hg38]
OMIM611785   
Gene and transcription
Genbank (Entrez)AB353947 AF319622 AF399931 AI334015 AK127141
RefSeq transcript (Entrez)NM_001163941 NM_001163942 NM_001163993 NM_178559
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)ABCB5
Cluster EST : UnigeneHs.404102 [ NCBI ]
CGAP (NCI)Hs.404102
Alternative Splicing GalleryENSG00000004846
Gene ExpressionABCB5 [ NCBI-GEO ]   ABCB5 [ EBI - ARRAY_EXPRESS ]   ABCB5 [ SEEK ]   ABCB5 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCB5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340273
GTEX Portal (Tissue expression)ABCB5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2M3G0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2M3G0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2M3G0
Splice isoforms : SwissVarQ2M3G0
PhosPhoSitePlusQ2M3G0
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCB5
DMDM Disease mutations340273
Blocks (Seattle)ABCB5
SuperfamilyQ2M3G0
Human Protein AtlasENSG00000004846
Peptide AtlasQ2M3G0
IPIIPI00746222   IPI00747550   IPI00844357   IPI00892563   IPI00893833   IPI00915866   
Protein Interaction databases
DIP (DOE-UCLA)Q2M3G0
IntAct (EBI)Q2M3G0
FunCoupENSG00000004846
BioGRIDABCB5
STRING (EMBL)ABCB5
ZODIACABCB5
Ontologies - Pathways
QuickGOQ2M3G0
Ontology : AmiGOantigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent  antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent  antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent  positive regulation of antigen processing and presentation of peptide antigen via MHC class I  ATP binding  plasma membrane  integral component of plasma membrane  drug transmembrane transport  metabolic process  xenobiotic-transporting ATPase activity  efflux transmembrane transporter activity  cell differentiation  regulation of membrane potential  ATPase activity, coupled to transmembrane movement of substances  xenobiotic transport  compound eye corneal lens development  transmembrane transport  transmembrane transport  
Ontology : EGO-EBIantigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent  antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent  antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent  positive regulation of antigen processing and presentation of peptide antigen via MHC class I  ATP binding  plasma membrane  integral component of plasma membrane  drug transmembrane transport  metabolic process  xenobiotic-transporting ATPase activity  efflux transmembrane transporter activity  cell differentiation  regulation of membrane potential  ATPase activity, coupled to transmembrane movement of substances  xenobiotic transport  compound eye corneal lens development  transmembrane transport  transmembrane transport  
Pathways : KEGGABC transporters   
REACTOMEQ2M3G0 [protein]
REACTOME PathwaysR-HSA-382556 ABC-family proteins mediated transport [pathway]
NDEx NetworkABCB5
Atlas of Cancer Signalling NetworkABCB5
Wikipedia pathwaysABCB5
Orthology - Evolution
OrthoDB340273
GeneTree (enSembl)ENSG00000004846
Phylogenetic Trees/Animal Genes : TreeFamABCB5
HOVERGENQ2M3G0
HOGENOMQ2M3G0
Homologs : HomoloGeneABCB5
Homology/Alignments : Family Browser (UCSC)ABCB5
Gene fusions - Rearrangements
Fusion : MitelmanFUK/ABCB5 [16q22.1/7p21.1]  [t(7;16)(p21;q22)]  
Fusion : MitelmanNF1/ABCB5 [17q11.2/7p21.1]  [t(7;17)(p21;q11)]  
Fusion: TCGAFUK 16q22.1 ABCB5 7p21.1 PRAD
Fusion: TCGANF1 17q11.2 ABCB5 7p21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCB5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCB5
dbVarABCB5
ClinVarABCB5
1000_GenomesABCB5 
Exome Variant ServerABCB5
ExAC (Exome Aggregation Consortium)ABCB5 (select the gene name)
Genetic variants : HAPMAP340273
Genomic Variants (DGV)ABCB5 [DGVbeta]
DECIPHER (Syndromes)7:20655245-20796637  ENSG00000004846
CONAN: Copy Number AnalysisABCB5 
Mutations
ICGC Data PortalABCB5 
TCGA Data PortalABCB5 
Broad Tumor PortalABCB5
OASIS PortalABCB5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCB5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCB5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch ABCB5
DgiDB (Drug Gene Interaction Database)ABCB5
DoCM (Curated mutations)ABCB5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCB5 (select a term)
intoGenABCB5
NCG5 (London)ABCB5
Cancer3DABCB5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611785   
Orphanet
MedgenABCB5
Genetic Testing Registry ABCB5
NextProtQ2M3G0 [Medical]
TSGene340273
GENETestsABCB5
Huge Navigator ABCB5 [HugePedia]
snp3D : Map Gene to Disease340273
BioCentury BCIQABCB5
ClinGenABCB5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD340273
Chemical/Pharm GKB GenePA24387
Clinical trialABCB5
Miscellaneous
canSAR (ICR)ABCB5 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCB5
EVEXABCB5
GoPubMedABCB5
iHOPABCB5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 20:08:15 CET 2016

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