Human Gene ABCC6 (ENST00000622290.4) Description and Page Index
Description: Homo sapiens ATP binding cassette subfamily C member 6 (ABCC6), transcript variant 4, non-coding RNA. (from RefSeq NR_147784) RefSeq Summary (NM_001171): 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]. Gencode Transcript: ENST00000622290.4 Gencode Gene: ENSG00000091262.15 Transcript (Including UTRs) Position: hg38 chr16:16,149,566-16,223,471 Size: 73,906 Total Exon Count: 30 Strand: - Coding Region Position: hg38 chr16:16,169,850-16,223,434 Size: 53,585 Coding Exon Count: 21
ID:MRP6_HUMAN DESCRIPTION: RecName: Full=Multidrug resistance-associated protein 6; AltName: Full=ATP-binding cassette sub-family C member 6; AltName: Full=Anthracycline resistance-associated protein; AltName: Full=Multi-specific organic anion transporter E; Short=MOAT-E; 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). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity). Note=Localized to the basolateral membrane. TISSUE SPECIFICITY: Expressed in kidney and liver. Very low expression in other tissues. DISEASE: Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE) [MIM:264800]. PXE is a disorder characterized by calcification of elastic fibers in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal hemorrhages leading to macular degeneration. PXE is caused in the overwhelming majority of cases by homozygous or compound heterozygous mutations in the ABCC6 gene (autosomal recessive PXE). Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype (autosomal dominant PXE). DISEASE: Defects in ABCC6 are the cause of arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]. GACI2 is 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. SIMILARITY: Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. SIMILARITY: Contains 2 ABC transmembrane type-1 domains. SIMILARITY: Contains 2 ABC transporter domains. SEQUENCE CAUTION: Sequence=AAC15785.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Mutations of the ABCC6 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/abcc6mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC6"; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95255";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95255
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.