ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5)
2009-07-01 Xiang Jiao , Tobias Sjöblom AffiliationDepartment of Genetics, Pathology, Uppsala University, Uppsala, Sweden
Identity
HGNC
LOCATION
7p21.1
LOCUSID
ALIAS
ABCB5alpha,ABCB5beta,EST422562
FUSION GENES
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.
Proteins
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
Entity name
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 name
Chemoresistance in human malignant melanoma
Oncogenesis
ABCB5 P-gp mediates melanoma doxorubicin resistance via its function as a doxorubicin efflux transporter.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15760339 | 2005 | 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 et al |
| 11435397 | 2001 | The human ATP-binding cassette (ABC) transporter superfamily. | Dean M et al |
| 15899824 | 2005 | ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma. | Frank NY et al |
| 12960149 | 2003 | Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter. | Frank NY et al |
| 18202660 | 2008 | Identification of cells initiating human melanomas. | Schatton T et al |
Other Information
Locus ID:
NCBI: 340273
MIM: 611785
HGNC: 46
Ensembl: ENSG00000004846
Variants:
dbSNP: 340273
ClinVar: 340273
TCGA: ENSG00000004846
COSMIC: ABCB5
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447215 | Psychotic Disorders | Disease | ClinicalAnnotation | associated | PD | 25647612 | |
| PA449841 | haloperidol | Chemical | ClinicalAnnotation, MultilinkAnnotation | associated | PD | 25647612, 27023437 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38073314 | 2024 | Evaluation of ABCB5 immunostained epithelial stem cells in oral squamous cell carcinoma, inflammatory gingival hyperplasia and normal mucosa. | 0 |
| 38145744 | 2024 | Identification of two novel heterodimeric ABC transporters in melanoma: ABCB5β/B6 and ABCB5β/B9. | 1 |
| 38073314 | 2024 | Evaluation of ABCB5 immunostained epithelial stem cells in oral squamous cell carcinoma, inflammatory gingival hyperplasia and normal mucosa. | 0 |
| 38145744 | 2024 | Identification of two novel heterodimeric ABC transporters in melanoma: ABCB5β/B6 and ABCB5β/B9. | 1 |
| 34571550 | 2023 | Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens. | 2 |
| 36868990 | 2023 | ABCB5(+) mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa. | 4 |
| 37685897 | 2023 | Changes in Expression and Function of Placental and Intestinal P-gp and BCRP Transporters during Pregnancy. | 1 |
| 34571550 | 2023 | Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens. | 2 |
| 36868990 | 2023 | ABCB5(+) mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa. | 4 |
| 37685897 | 2023 | Changes in Expression and Function of Placental and Intestinal P-gp and BCRP Transporters during Pregnancy. | 1 |
| 35738589 | 2022 | Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues. | 4 |
| 36242878 | 2022 | Consecutive dosing of UVB irradiation induces loss of ABCB5 expression and activation of EMT and fibrosis proteins in limbal epithelial cells similar to pterygium epithelium. | 1 |
| 35738589 | 2022 | Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues. | 4 |
| 36242878 | 2022 | Consecutive dosing of UVB irradiation induces loss of ABCB5 expression and activation of EMT and fibrosis proteins in limbal epithelial cells similar to pterygium epithelium. | 1 |
| 33759959 | 2021 | IS THERE A CLINICAL PATHOLOGICAL CORRELATION OF COLORECTAL ADENOCARCINOMA WITH THE IMMUNOHISTOCHEMICAL EXPRESSION OF OPN AND ABCB5? | 2 |
Citation
Xiang Jiao ; Tobias Sjöblom
ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5)
Atlas Genet Cytogenet Oncol Haematol. 2009-07-01
Online version: http://atlasgeneticsoncology.org/gene/44305/abcb5
