InnateDB Protein
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IDBP-367192.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ABCB5
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Protein Name
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ATP-binding cassette, sub-family B (MDR/TAP), member 5
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000406730
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InnateDB Gene
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IDBG-9209 (ABCB5)
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Protein Structure
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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}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:12960149}; Multi-pass membrane protein {ECO:0000255PROSITE-ProRule:PRU00441, ECO:0000269PubMed:12960149}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
0
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0002481
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antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
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GO:0002485
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antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent
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GO:0002489
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antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent
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GO:0002591
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positive regulation of antigen processing and presentation of peptide antigen via MHC class I
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GO:0006200
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ATP catabolic process
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GO:0042391
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regulation of membrane potential
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GO:0055085
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transmembrane transport
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Cellular Component |
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PDB ID |
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InterPro |
IPR003439
ABC transporter-like
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF00005
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q2M3G0
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PhosphoSite |
PhosphoSite-Q2M3G0
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TrEMBL |
A0A024RA03
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UniProt Splice Variant |
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Entrez Gene |
340273
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UniGene |
Hs.404102
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RefSeq |
NP_001157414
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HUGO |
HGNC:46
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OMIM |
611785
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CCDS |
CCDS55091
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HPRD |
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IMGT |
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EMBL |
AB353947
AC002486
AC005060
AF319622
AF399931
AY090613
AY230001
AY234788
AY851364
AY851365
BC104894
BC104920
BC110370
CH236948
CH471073
GU437216
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GenPept |
AAI04895
AAI04921
AAM09027
AAN76500
AAO73470
AAP55848
AAQ03033
AAW31629
AAW31630
ADV32636
BAF75364
EAL24273
EAW93726
EAW93727
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