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

2009-07-01   Xiang Jiao  , Tobias Sjöblom  

Department of Genetics, Pathology, Uppsala University, Uppsala, Sweden

Identity

HGNC
ABCB5
LOCATION
7p21.1
LOCUSID
340273
ALIAS
ABCB5alpha,ABCB5beta,EST422562
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image
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 IDLast YearTitleAuthors
157603392005Principal 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
114353972001The human ATP-binding cassette (ABC) transporter superfamily.Dean M et al
158998242005ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma.Frank NY et al
129601492003Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter.Frank NY et al
182026602008Identification 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

Gene IDTranscript IDUniprot
ENSG00000004846ENST00000258738Q2M3G0
ENSG00000004846ENST00000404938Q2M3G0
ENSG00000004846ENST00000406935Q2M3G0
ENSG00000004846ENST00000441315H7C165
ENSG00000004846ENST00000443026Q2M3G0
ENSG00000004846ENST00000443026A0A024RA03

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447215Psychotic DisordersDiseaseClinicalAnnotationassociatedPD25647612
PA449841haloperidolChemicalClinicalAnnotation, MultilinkAnnotationassociatedPD25647612, 27023437

References

Pubmed IDYearTitleCitations
380733142024Evaluation of ABCB5 immunostained epithelial stem cells in oral squamous cell carcinoma, inflammatory gingival hyperplasia and normal mucosa.0
381457442024Identification of two novel heterodimeric ABC transporters in melanoma: ABCB5β/B6 and ABCB5β/B9.1
380733142024Evaluation of ABCB5 immunostained epithelial stem cells in oral squamous cell carcinoma, inflammatory gingival hyperplasia and normal mucosa.0
381457442024Identification of two novel heterodimeric ABC transporters in melanoma: ABCB5β/B6 and ABCB5β/B9.1
345715502023Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.2
368689902023ABCB5(+) mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa.4
376858972023Changes in Expression and Function of Placental and Intestinal P-gp and BCRP Transporters during Pregnancy.1
345715502023Islet Co-Expression of CD133 and ABCB5 in Human Retinoblastoma Specimens.2
368689902023ABCB5(+) mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa.4
376858972023Changes in Expression and Function of Placental and Intestinal P-gp and BCRP Transporters during Pregnancy.1
357385892022Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues.4
362428782022Consecutive 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
357385892022Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues.4
362428782022Consecutive 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
337599592021IS 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/tumors-explorer/css/case-report-explorer/