InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCB5

Summary

InnateDB Protein

IDBP-9215.6

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

ENSP00000258738

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:0006810	transport
GO:0042391	regulation of membrane potential
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR011527 ABC transporter type 1, transmembrane domain
IPR019195 ABC transporter, ATPase, putative
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00664
PF13748
PF00005
PF09818

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q2M3G0