ABCC6 Gene Summary [Human]
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ABCC6 |
| Official Name | ATP binding cassette subfamily C member 6 [Source:HGNC Symbol;Acc:HGNC:57] |
| Ensembl ID | ENSG00000091262 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily C member 6 |
| Synonyms | ABC34, Abcc1b, Anthracycline resistance associated, ARA, ATP binding cassette subfamily C member 6, ATP-binding cassette, sub-family C member 6, DCC, dyscalc, Dyscalc1, EST349056, GACI2, LOC100292715, MLP1, MOAT-E, MRP6, PXE, PXE1, URG7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABCC6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase activity, coupled to transmembrane movement of substances
- lipid A export permease/ATP-binding protein MsbA
- inorganic diphosphate transporter
- ATP binding
- Conjugate Transporter-2 (CT2) Family protein
- conjugate transporter
- nitrate transport ATP-binding subunits C and D
- ATPase
- inorganic anion transporter
- heme ABC exporter, ATP-binding protein CcmA
- ABC transporter transmembrane region
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- thiol reductant ABC exporter, CydD subunit
- thiol reductant ABC exporter, CydC subunit
- cystic fibrosis transmembrane conductor regulator (CFTR)
- energy-coupling factor transporter ATPase
- xenobiotic-transporting ATPase
- multi drug resistance-associated protein (MRP)
- ABC transporter
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- kidney stones
- pseudoxanthoma elasticum
- forme fruste pseudoxanthoma elasticum
- retinal dystrophy
- generalized arterial calcification of infancy type 2
- nephrocalcinosis
- calcinosis
- urinary bladder stone
- optic atrophy
role in cell
- expression in
- phosphorylation in
- apoptosis
- survival
- upregulation in
- ubiquitination in
- homeostasis in
- autophagy in
- drug resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Extracellular Space
- cellular membrane
- lateral cell surfaces
- apical membrane
- basolateral membrane
- basal membrane
- lateral plasma membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCC6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphate ion homeostasis
- leukotriene transport
- transmembrane transport
- calcium ion homeostasis
- response to xenobiotic stimulus
- visual perception
- inorganic diphosphate transport
- ATP metabolic process
- gene expression
- response to magnesium ion
- ATP transport
- cellular phosphate ion homeostasis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- basal plasma membrane
- membrane
- extracellular region
- basolateral plasma membrane
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- glutathione S-conjugate-exporting ATPase activity
- anion transmembrane-transporting ATPase activity