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Aliases for ABCB5 Gene

Aliases for ABCB5 Gene

  • ATP Binding Cassette Subfamily B Member 5 2 3 5
  • P-Glycoprotein ABCB5 2 3 4
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 5 2 3
  • ATP-Binding Cassette Protein 2 3
  • ABCB5 P-Gp 3 4
  • EC 3.6.3.44 63
  • ABCB5alpha 3
  • ABCB5beta 3
  • EST422562 3
  • EC 3.6.3 63

External Ids for ABCB5 Gene

Previous GeneCards Identifiers for ABCB5 Gene

  • GC07U990157
  • GC07P020328
  • GC07P020431
  • GC07P020412
  • GC07P020460
  • GC07P020653
  • GC07P020544

Summaries for ABCB5 Gene

Entrez Gene Summary for ABCB5 Gene

  • 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, Mar 2008]

GeneCards Summary for ABCB5 Gene

ABCB5 (ATP Binding Cassette Subfamily B Member 5) is a Protein Coding gene. Diseases associated with ABCB5 include placental site trophoblastic tumor. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity and efflux transmembrane transporter activity. An important paralog of this gene is ABCB11.

UniProtKB/Swiss-Prot for ABCB5 Gene

  • Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.

Tocris Summary for ABCB5 Gene

  • ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.

Gene Wiki entry for ABCB5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB5 Gene

Genomics for ABCB5 Gene

Regulatory Elements for ABCB5 Gene

Genomic Location for ABCB5 Gene

Chromosome:
7
Start:
20,615,207 bp from pter
End:
20,777,038 bp from pter
Size:
161,832 bases
Orientation:
Plus strand

Genomic View for ABCB5 Gene

Genes around ABCB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB5 Gene

Proteins for ABCB5 Gene

  • Protein details for ABCB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M3G0-ABCB5_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 5
    Protein Accession:
    Q2M3G0
    Secondary Accessions:
    • A4D131
    • A7BKA4
    • B5MD19
    • B7WPL1
    • F8QQP8
    • F8QQP9
    • J3KQ04
    • Q2M3I5
    • Q5I5Q7
    • Q5I5Q8
    • Q6KG50
    • Q6XFQ5
    • Q8IXA1

    Protein attributes for ABCB5 Gene

    Size:
    1257 amino acids
    Molecular mass:
    138641 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Acts as a marker of stem-like cells (CSC) in a number of malignancies (PubMed:24934811). Associated with clinical drug resistance, tumor progression and disease recurrence in malignant melanoma and acute leukemias. Responsible for the resistance to doxorubicin of a subset of malignant melanomas. ABCB5-expressing cells selectively survive when exposed to dacarbazine drug, the reference treatment of metastatic melanoma, vemurafenib and other various chemotherapeutic drugs, suggesting that anti-melanoma chemotherapy participates to the chemoresistance acquisition by selecting tumor cell subpopulations expressing ABCB5 (PubMed:22784549, PubMed:22044138, PubMed:22675422, PubMed:23770371, PubMed:24934811). Present in melanoma-initiating cells that acts as an enhancer of tumor growth by promoting CSC maintenance and tumor growth by controlling IL-1beta (IL1B) secretion to maintain slow-cycling, chemoresistant cells through an IL-1beta (IL1B)/IL8/CXCR1 cytokine signaling circuit (PubMed:24934811).
    SequenceCaution:
    • Sequence=AAN76500.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ03033.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCB5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB5 Gene

Proteomics data for ABCB5 Gene at MOPED

Selected DME Specific Peptides for ABCB5 Gene

Post-translational modifications for ABCB5 Gene

  • Glycosylation at Asn 344, Asn 374, Asn 465, Asn 659, Asn 743, Asn 17, Asn 85, Asn 91, Asn 371, Asn 390, and Asn 423
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ABCB5

Domains & Families for ABCB5 Gene

Gene Families for ABCB5 Gene

Protein Domains for ABCB5 Gene

Graphical View of Domain Structure for InterPro Entry

Q2M3G0

UniProtKB/Swiss-Prot:

ABCB5_HUMAN :
  • Contains 2 ABC transmembrane type-1 domains.
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
Domain:
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
genes like me logo Genes that share domains with ABCB5: view

Function for ABCB5 Gene

Molecular function for ABCB5 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 5,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.

Enzyme Numbers (IUBMB) for ABCB5 Gene

Gene Ontology (GO) - Molecular Function for ABCB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008559 xenobiotic-transporting ATPase activity TAS --
genes like me logo Genes that share ontologies with ABCB5: view
genes like me logo Genes that share phenotypes with ABCB5: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCB5 Gene

Localization for ABCB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB5 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCB5 Gene COMPARTMENTS Subcellular localization image for ABCB5 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ABCB5 Gene

Pathways & Interactions for ABCB5 Gene

genes like me logo Genes that share pathways with ABCB5: view

Pathways by source for ABCB5 Gene

1 KEGG pathway for ABCB5 Gene

Gene Ontology (GO) - Biological Process for ABCB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006855 drug transmembrane transport TAS --
GO:0030154 cell differentiation IEA --
GO:0042391 regulation of membrane potential IDA 12960149
GO:0042908 xenobiotic transport TAS --
genes like me logo Genes that share ontologies with ABCB5: view

No data available for SIGNOR curated interactions for ABCB5 Gene

Drugs & Compounds for ABCB5 Gene

(4) Drugs for ABCB5 Gene - From: Tocris, DrugBank, ApexBio, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Haloperidol Approved Pharma Antagonist Antipsychotic drug 136
Estropipate Approved Pharma Estrogen receptor agonist and OATP1B1 inhibitor 19
Biricodar Investigational Pharma Target 0
Elacridar Investigational Pharma BCRP inhibitor 0

(4) Additional Compounds for ABCB5 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fumitremorgin C
  • SM-Q
118974-02-0
Ko 143
461054-93-3
MK 571
115104-28-4
Reversan
313397-13-6
genes like me logo Genes that share compounds with ABCB5: view

Transcripts for ABCB5 Gene

Unigene Clusters for ABCB5 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 5:
Representative Sequences:

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

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: -

Relevant External Links for ABCB5 Gene

GeneLoc Exon Structure for
ABCB5
ECgene alternative splicing isoforms for
ABCB5

Expression for ABCB5 Gene

mRNA expression in normal human tissues for ABCB5 Gene

mRNA differential expression in normal tissues according to GTEx for ABCB5 Gene

This gene is overexpressed in Breast - Mammary Tissue (x11.4), Adipose - Subcutaneous (x7.8), Cervix - Ectocervix (x6.6), and Adipose - Visceral (Omentum) (x4.3).

Protein differential expression in normal tissues from HIPED for ABCB5 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCB5 Gene



SOURCE GeneReport for Unigene cluster for ABCB5 Gene Hs.404102

mRNA Expression by UniProt/SwissProt for ABCB5 Gene

Q2M3G0-ABCB5_HUMAN
Tissue specificity: Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Highly expressed in several malignant tissues: highly expressed in clinical melanomas, with low expression in normal skin. In melanoma, marks malignant melanoma-initiating cells (MMIC), in which clinical virulence resides as a consequence of unlimited self-renewal capacity, resulting in inexorable tumor progression and metastasis. Also highly expressed in a number of leukemia cells. Expressed in basal limbal epithelium.
genes like me logo Genes that share expression patterns with ABCB5: view

Protein tissue co-expression partners for ABCB5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ABCB5 Gene

Orthologs for ABCB5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCB5 36
  • 98 (a)
OneToOne
ABCB5 35
  • 98.75 (n)
  • 98.33 (a)
cow
(Bos Taurus)
Mammalia LOC536724 35
  • 89.84 (n)
  • 87.67 (a)
ABCB5 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB5 36
  • 84 (a)
OneToOne
ABCB5 35
  • 89.18 (n)
  • 86.98 (a)
mouse
(Mus musculus)
Mammalia Abcb5 16
Abcb5 35
  • 82.32 (n)
  • 78.23 (a)
Abcb5 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb5 35
  • 81.34 (n)
  • 78.31 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 50 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485969 35
  • 64.56 (n)
  • 61.2 (a)
zebrafish
(Danio rerio)
Actinopterygii abcb5 36
  • 47 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10226 36
  • 36 (a)
ManyToMany
Mdr49 36
  • 39 (a)
ManyToMany
Mdr50 36
  • 38 (a)
ManyToMany
Mdr65 36
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pgp-10 36
  • 28 (a)
ManyToMany
pgp-11 36
  • 30 (a)
ManyToMany
pgp-12 36
  • 34 (a)
ManyToMany
pgp-13 36
  • 33 (a)
ManyToMany
pgp-14 36
  • 34 (a)
ManyToMany
pgp-3 36
  • 37 (a)
ManyToMany
pgp-5 36
  • 35 (a)
ManyToMany
pgp-6 36
  • 36 (a)
ManyToMany
pgp-7 36
  • 36 (a)
ManyToMany
pgp-8 36
  • 34 (a)
ManyToMany
pgp-9 36
  • 41 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 36
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PGP13 35
  • 49.33 (n)
  • 39.43 (a)
rice
(Oryza sativa)
Liliopsida Os.41637 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
ManyToMany
Species with no ortholog for ABCB5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCB5 Gene

ENSEMBL:
Gene Tree for ABCB5 (if available)
TreeFam:
Gene Tree for ABCB5 (if available)

Paralogs for ABCB5 Gene

Paralogs for ABCB5 Gene

genes like me logo Genes that share paralogs with ABCB5: view

Variants for ABCB5 Gene

Sequence variations from dbSNP and Humsavar for ABCB5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2301641 - 20,658,647(+) AAAGC(A/G)AGTCA reference, missense
rs13222448 - 20,685,832(+) ATCTA(A/C/G)AGAGG reference, missense
rs17143304 - 20,728,331(+) AGAAA(A/G)CACAG reference, missense
rs6461515 - 20,739,023(+) TCGGA(A/G)AAACG reference, missense
rs35885925 - 20,727,129(+) CTTCA(G/T)ACTCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ABCB5 Gene

Variant ID Type Subtype PubMed ID
esv2663031 CNV Deletion 23128226
esv2734105 CNV Deletion 23290073
nsv522999 CNV Loss 19592680
esv2734107 CNV Deletion 23290073
esv2306944 CNV Deletion 18987734
esv2734108 CNV Deletion 23290073
esv2551418 CNV Deletion 19546169
nsv522599 CNV Loss 19592680
nsv511370 CNV Loss 21212237
nsv5651 CNV Loss 18451855
nsv517268 CNV Loss 19592680
esv1003420 CNV Deletion 20482838
esv2654247 CNV Deletion 19546169
nsv511951 CNV Loss 21212237
esv2340535 CNV Deletion 18987734
nsv514408 CNV Loss 21397061
esv2734109 CNV Deletion 23290073
dgv1187e199 CNV Deletion 23128226
nsv499219 CNV Loss 21111241
esv29258 CNV Loss 19812545
esv2474858 CNV Loss 19546169
nsv524866 CNV Loss 19592680
esv2668344 CNV Deletion 23128226
nsv887837 CNV Loss 21882294

Variation tolerance for ABCB5 Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.45; 99.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCB5 Gene

HapMap Linkage Disequilibrium report
ABCB5
Human Gene Mutation Database (HGMD)
ABCB5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB5 Gene

Disorders for ABCB5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCB5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
placental site trophoblastic tumor
  • placental-site gestational trophoblastic neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search ABCB5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABCB5

Genetic Association Database (GAD)
ABCB5
Human Genome Epidemiology (HuGE) Navigator
ABCB5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB5
genes like me logo Genes that share disorders with ABCB5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCB5 Gene

Publications for ABCB5 Gene

  1. Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter. (PMID: 12960149) Frank N.Y. … Frank M.H. (J. Biol. Chem. 2003) 2 3 4 67
  2. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PMID: 8894702) Allikmets R. … Dean M. (Hum. Mol. Genet. 1996) 2 3
  3. CD133a8_ melanoma subpopulation acquired resistance to caffeic acid phenethyl ester-induced apoptosis is attributed to the elevated expression of ABCB5: significance for melanoma treatment. (PMID: 25449786) El-Khattouti A. … Hassan M. (Cancer Lett. 2015) 3
  4. ABCB5 maintains melanoma-initiating cells through a pro-inflammatory cytokine signaling circuit. (PMID: 24934811) Wilson B.J. … Frank M.H. (Cancer Res. 2014) 3
  5. The clinical relevance and prognostic significance of adenosine triphosphate ATP-binding cassette (ABCB5) and multidrug resistance (MDR1) genes expression in acute leukemia: an Egyptian study. (PMID: 24804815) Farawela H.M. … Zawam H.M. (J. Cancer Res. Clin. Oncol. 2014) 3

Products for ABCB5 Gene

Sources for ABCB5 Gene

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