InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCC6

Summary

InnateDB Protein

IDBP-16765.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCC6

Protein Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Synonyms

ABC34; ARA; EST349056; GACI2; MLP1; MOAT-E; MOATE; MRP6; PXE; PXE1; URG7;

Species

Homo sapiens

Ensembl Protein

ENSP00000205557

InnateDB Gene

IDBG-16763 (ABCC6)

Protein Structure

UniProt Annotation

Function

May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS). {ECO:0000269PubMed:11880368}.

Subcellular Localization

Basolateral cell membrane {ECO:0000269PubMed:12901863, ECO:0000269PubMed:23625951}; Multi- pass membrane protein {ECO:0000255PROSITE-ProRule:PRU00441, ECO:0000269PubMed:12901863, ECO:0000269PubMed:23625951}.

Disease Associations

Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO:0000269PubMed:10811882, ECO:0000269PubMed:10835642, ECO:0000269PubMed:10954200, ECO:0000269PubMed:11427982, ECO:0000269PubMed:11536079, ECO:0000269PubMed:11702217, ECO:0000269PubMed:15086542, ECO:0000269PubMed:15098239, ECO:0000269PubMed:15459974, ECO:0000269PubMed:16086317, ECO:0000269PubMed:17617515, ECO:0000269PubMed:19339160, ECO:0000269PubMed:20034067}. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype.Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. {ECO:0000269PubMed:22209248}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in kidney and liver. Very low expression in other tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	6 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0006200	ATP catabolic process
GO:0006810	transport
GO:0007601	visual perception
GO:0042493	response to drug
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0016328	lateral plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR005292 Multi drug resistance-associated protein
IPR011527 ABC transporter type 1, transmembrane domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00664
PF13748
PF00005

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O95255