Homo sapiens Protein: ABCB5
Summary
InnateDB Protein IDBP-367192.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCB5
Protein Name ATP-binding cassette, sub-family B (MDR/TAP), member 5
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000406730
InnateDB Gene IDBG-9209 (ABCB5)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:12960149, ECO:0000269PubMed:15205344, ECO:0000269PubMed:15899824, ECO:0000269PubMed:22306008}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:12960149}; Multi-pass membrane protein {ECO:0000255PROSITE-ProRule:PRU00441, ECO:0000269PubMed:12960149}.
Disease Associations
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. {ECO:0000269PubMed:12960149, ECO:0000269PubMed:15760339, ECO:0000269PubMed:22044138, ECO:0000269PubMed:22675422, ECO:0000269PubMed:22784549, ECO:0000269PubMed:23770371, ECO:0000269PubMed:24934811, ECO:0000269PubMed:25030174}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005524 ATP binding
GO:0015562 efflux transmembrane transporter activity
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
Biological Process
GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent
GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent
GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I
GO:0006200 ATP catabolic process
GO:0042391 regulation of membrane potential
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR003439 ABC transporter-like
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00005
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q2M3G0
PhosphoSite PhosphoSite-Q2M3G0
TrEMBL A0A024RA03
UniProt Splice Variant
Entrez Gene 340273
UniGene Hs.404102
RefSeq NP_001157414
HUGO HGNC:46
OMIM 611785
CCDS CCDS55091
HPRD
IMGT
EMBL AB353947 AC002486 AC005060 AF319622 AF399931 AY090613 AY230001 AY234788 AY851364 AY851365 BC104894 BC104920 BC110370 CH236948 CH471073 GU437216
GenPept AAI04895 AAI04921 AAM09027 AAN76500 AAO73470 AAP55848 AAQ03033 AAW31629 AAW31630 ADV32636 BAF75364 EAL24273 EAW93726 EAW93727