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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 (NCBI)ABCB5alpha
ABCB5beta
EST422562
HGNC (Hugo) ABCB5
HGNC Alias symbEST422562
ABCB5beta
ABCB5alpha
HGNC Alias nameP-glycoprotein ABCB5
 ATP-binding cassette protein
HGNC Previous nameATP-binding cassette, sub-family B (MDR/TAP), member 5
LocusID (NCBI) 340273
Atlas_Id 44305
Location 7p21.1  [Link to chromosome band 7p21]
Location_base_pair Starts at 20647330 and ends at 20757008 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ABCB5.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 ]


External links

Nomenclature
HGNC (Hugo)ABCB5   46
Cards
AtlasABCB5ID44305ch7p15
Entrez_Gene (NCBI)ABCB5    ATP binding cassette subfamily B member 5
AliasesABCB5alpha; ABCB5beta; EST422562
GeneCards (Weizmann)ABCB5
Ensembl hg19 (Hinxton)ENSG00000004846 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000004846 [Gene_View]  ENSG00000004846 [Sequence]  chr7:20647330-20757008 [Contig_View]  ABCB5 [Vega]
ICGC DataPortalENSG00000004846
TCGA cBioPortalABCB5
AceView (NCBI)ABCB5
Genatlas (Paris)ABCB5
SOURCE (Princeton)ABCB5
Genetics Home Reference (NIH)ABCB5
Genomic and cartography
GoldenPath hg38 (UCSC)ABCB5  -     chr7:20647330-20757008 +  7p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCB5  -     7p21.1   [Description]    (hg19-Feb_2009)
GoldenPathABCB5 - 7p21.1 [CytoView hg19]  ABCB5 - 7p21.1 [CytoView hg38]
ImmunoBaseENSG00000004846
Genome Data Viewer NCBIABCB5 [Mapview hg19]  
OMIM611785   
Gene and transcription
Genbank (Entrez)AB353947 AF319622 AF399931 AI334015 AK127141
RefSeq transcript (Entrez)NM_001163941 NM_001163942 NM_001163993 NM_178559
Consensus coding sequences : CCDS (NCBI)ABCB5
Gene ExpressionABCB5 [ NCBI-GEO ]   ABCB5 [ EBI - ARRAY_EXPRESS ]   ABCB5 [ SEEK ]   ABCB5 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCB5 [ Firebrowse - Broad ]
GenevisibleExpression of ABCB5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340273
GTEX Portal (Tissue expression)ABCB5
Human Protein AtlasENSG00000004846-ABCB5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ABCB5
Human Protein Atlas [tissue]ENSG00000004846-ABCB5 [tissue]
Protein Interaction databases
BioGRIDABCB5
STRING (EMBL)ABCB5
ZODIACABCB5
Ontologies - Pathways
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABCB5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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