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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
  • ATP-Binding Cassette Sub-Family B Member 5 3
  • EC 3.6.3.44 61
  • ABCB5alpha 3
  • ABCB5beta 3
  • EST422562 3
  • EC 3.6.3 61

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 Dyschromatosis Universalis Hereditaria and Malignant Conjunctival Melanoma. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ATPase activity and efflux transmembrane transporter activity. An important paralog of this gene is ABCB4.

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

Enhancers for ABCB5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F020577 0.6 ENCODE 11.3 -37.3 -37320 0.7 ABCB5 EEF1A1P27 GC07P020414
GH07F020595 0.9 FANTOM5 Ensembl ENCODE 0.3 -18.3 -18297 1.8 JUN ZFP64 CEBPB CEBPG JUND FOS MYC MAFK ZBTB20 ZNF558 ITGB8 LOC402641 ABCB5
GH07F020598 1.6 FANTOM5 Ensembl ENCODE 0.3 -16.3 -16328 1.0 CTCF PKNOX1 ZNF654 JUN USF2 TRIM22 REST RAD21 RAD51 KLF16 TWISTNB TMEM196 ITGB8 LOC402641 ABCB5
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ABCB5 on UCSC Golden Path with GeneCards custom track

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 in 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

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

  • Cloud-Clone Corp. Antibodies for ABCB5
  • Santa Cruz Biotechnology (SCBT) Antibodies for ABCB5

Domains & Families for ABCB5 Gene

Gene Families 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:0005524 ATP binding IEA --
GO:0008559 xenobiotic-transporting ATPase activity TAS --
GO:0015562 efflux transmembrane transporter activity IDA 12960149
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA,IBA --
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

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for ABCB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 12960149
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCB5: view

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:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IBA --
GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IBA --
GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent IBA --
GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I IBA --
GO:0006810 transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Haloperidol Approved Pharma Antagonist Antipsychotic drug 141
Biricodar Investigational Pharma Target 0
Elacridar Investigational Pharma BCRP inhibitor 0
Ko 143 Pharma BCRP inhibitor,potent and selective, Potent and selective BCRP inhibitor 0
Reversan Pharma Selective MRP1 and P-gp inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ceefourin 1
315702-40-0
PSC 833
121584-18-7
Tariquidar dihydrochloride

(5) Tocris Compounds for ABCB5 Gene

Compound Action Cas Number
Ceefourin 1 Selective MRP4 inhibitor 315702-40-0
Ko 143 Potent and selective BCRP inhibitor 461054-93-3
PSC 833 Inhibitor of P-gp-mediated MDR 121584-18-7
Reversan Selective MRP1 and P-gp inhibitor 313397-13-6
Tariquidar dihydrochloride Potent P-glycoprotein (P-gp) inhibitor

(1) ApexBio Compounds for ABCB5 Gene

Compound Action Cas Number
Elacridar BCRP inhibitor 143664-11-3
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:

Flow Cytometry Products

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



Protein tissue co-expression partners for ABCB5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCB5 Gene:

ABCB5

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

Primer 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 34 35
  • 98.75 (n)
cow
(Bos Taurus)
Mammalia LOC536724 34
  • 89.84 (n)
ABCB5 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCB5 34 35
  • 89.18 (n)
mouse
(Mus musculus)
Mammalia Abcb5 34 16 35
  • 82.32 (n)
rat
(Rattus norvegicus)
Mammalia Abcb5 34
  • 81.34 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 50 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485969 34
  • 64.56 (n)
zebrafish
(Danio rerio)
Actinopterygii abcb5 35
  • 47 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Mdr49 35
  • 39 (a)
ManyToMany
Mdr50 35
  • 38 (a)
ManyToMany
Mdr65 35
  • 38 (a)
ManyToMany
CG10226 35
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pgp-9 35
  • 41 (a)
ManyToMany
pgp-3 35
  • 37 (a)
ManyToMany
pgp-6 35
  • 36 (a)
ManyToMany
pgp-7 35
  • 36 (a)
ManyToMany
pgp-5 35
  • 35 (a)
ManyToMany
pgp-12 35
  • 34 (a)
ManyToMany
pgp-14 35
  • 34 (a)
ManyToMany
pgp-8 35
  • 34 (a)
ManyToMany
pgp-13 35
  • 33 (a)
ManyToMany
pgp-11 35
  • 30 (a)
ManyToMany
pgp-10 35
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE6 35
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PGP13 34
  • 49.33 (n)
rice
(Oryza sativa)
Liliopsida Os.41637 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
ManyToMany
Species where no ortholog for ABCB5 was found in the sources mined by GeneCards:
  • 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
VAR_035731 A colorectal cancer sample
VAR_062662 A pancreatic ductal adenocarcinoma sample
rs1004060 -- 20,640,384(+) atgtg(C/T)gttgg intron-variant
rs1004226 -- 20,641,930(-) CAGAC(A/T)AATGG intron-variant
rs10081180 -- 20,715,912(+) ACGGG(C/G)TTTCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv11228n54 CNV loss 21841781
dgv11229n54 CNV loss 21841781
dgv11230n54 CNV loss 21841781
dgv11231n54 CNV loss 21841781
dgv11232n54 CNV loss 21841781
dgv11233n54 CNV loss 21841781
dgv1187e199 CNV deletion 23128226
dgv3504n106 CNV deletion 24896259
esv1003420 CNV deletion 20482838
esv2306944 CNV deletion 18987734
esv2340535 CNV deletion 18987734
esv2474858 CNV loss 19546169
esv2551418 CNV deletion 19546169
esv2654247 CNV deletion 19546169
esv2663031 CNV deletion 23128226
esv2668344 CNV deletion 23128226
esv2734105 CNV deletion 23290073
esv2734107 CNV deletion 23290073
esv2734108 CNV deletion 23290073
esv2734109 CNV deletion 23290073
esv29258 CNV loss 19812545
esv3281385 CNV deletion 24192839
esv3541308 CNV deletion 23714750
esv3612494 CNV loss 21293372
esv3612495 CNV gain 21293372
nsv1030726 CNV gain 25217958
nsv1125907 CNV tandem duplication 24896259
nsv1132039 CNV deletion 24896259
nsv1133026 CNV deletion 24896259
nsv1137196 CNV deletion 24896259
nsv1149303 CNV deletion 26484159
nsv499219 CNV loss 21111241
nsv511370 CNV loss 21212237
nsv511951 CNV loss 21212237
nsv514408 CNV loss 21397061
nsv517268 CNV loss 19592680
nsv522599 CNV loss 19592680
nsv522999 CNV loss 19592680
nsv524866 CNV loss 19592680
nsv5651 CNV deletion 18451855
nsv606370 CNV loss 21841781
nsv606371 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
ABCB5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB5

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

Disorders for ABCB5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
dyschromatosis universalis hereditaria
  • duh
malignant conjunctival melanoma
  • conjunctival melanoma
- 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 64
  2. ABCB5 maintains melanoma-initiating cells through a pro-inflammatory cytokine signaling circuit. (PMID: 24934811) Wilson B.J. … Frank M.H. (Cancer Res. 2014) 3 4 64
  3. ABCB5 is a limbal stem cell gene required for corneal development and repair. (PMID: 25030174) Ksander B.R. … Frank N.Y. (Nature 2014) 3 4 64
  4. Genetically determined ABCB5 functionality correlates with pigmentation phenotype and melanoma risk. (PMID: 23770371) Lin J.Y. … Frank M.H. (Biochem. Biophys. Res. Commun. 2013) 3 4 64
  5. Expression of ABCB5 gene in hematological malignances and its significance. (PMID: 22044138) Yang M. … Xiong D. (Leuk. Lymphoma 2012) 3 4 64

Products for ABCB5 Gene

Sources for ABCB5 Gene

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