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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:16,149,566-16,223,471)mRNA (may differ from genome)Protein (871 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGImyGene2neXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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";

-  MalaCards Disease Associations
  MalaCards Gene Search: ABCC6
Diseases sorted by gene-association score: pseudoxanthoma elasticum* (1740), arterial calcification, generalized, of infancy, 2* (1300), pseudoxanthoma elasticum, forme fruste* (900), cutis laxa* (406), eye disease* (288), ethylmalonic encephalopathy* (283), spiradenoma* (283), arterial calcification of infancy* (282), ewing sarcoma* (200), angioid streaks (50), elastosis perforans serpiginosa (19), acquired pseudoxanthoma elasticum (18), chorioretinal scar (7), autosomal genetic disease (6), optic disk drusen (6), granuloma annulare (6), retinal disease (2), connective tissue disease (2), autosomal recessive disease (1), retinitis pigmentosa (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.00 RPKM in Liver
Total median expression: 54.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.5037-0.095 Picture PostScript Text
3' UTR -983.802288-0.430 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR003439 - ABC_transporter-like
IPR017871 - ABC_transporter_CS
IPR017940 - ABC_transporter_type1
IPR001140 - ABC_transptr_TM_dom
IPR011527 - ABC_transptrTM_dom_typ1
IPR005292 - Multidrug-R_assoc

Pfam Domains:
PF00664 - ABC transporter transmembrane region
PF00005 - ABC transporter

ModBase Predicted Comparative 3D Structure on O95255
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005215 transporter activity
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0022857 transmembrane transporter activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0043225 ATPase-coupled anion transmembrane transporter activity

Biological Process:
GO:0007601 visual perception
GO:0042493 response to drug
GO:0050896 response to stimulus
GO:0055085 transmembrane transport
GO:0099133 ATP hydrolysis coupled anion transmembrane transport

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
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


-  Descriptions from all associated GenBank mRNAs
  X95715 - H.sapiens mRNA for anthracycline resistance associated protein.
AM711638 - Homo sapiens ABCC6 gene for ATP-binding cassette (sub-family C, member 6).
AM774324 - Homo sapiens mRNA for ATP-binding cassette (sub-family C, member 6) (ABCC6 gene).
AF076622 - Homo sapiens MRP6 (MRP6) mRNA, complete cds.
BC131732 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6, mRNA (cDNA clone MGC:150677 IMAGE:40124570), complete cds.
AF168791 - Homo sapiens multi-specific organic anion tranporter-E mRNA, partial cds.
AK298295 - Homo sapiens cDNA FLJ51921 complete cds, highly similar to Multidrug resistance-associated protein 6.
BC050733 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6, mRNA (cDNA clone IMAGE:6141205), complete cds.
U66689 - Homo sapiens clone EST349056 mRNA sequence.
AY078405 - Homo sapiens up-regulated gene 7 (URG7) mRNA, complete cds.
JD252750 - Sequence 233774 from Patent EP1572962.
JD227409 - Sequence 208433 from Patent EP1572962.
JD219674 - Sequence 200698 from Patent EP1572962.
JD527172 - Sequence 508196 from Patent EP1572962.
JD458274 - Sequence 439298 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa02010 - ABC transporters

Reactome (by CSHL, EBI, and GO)

Protein O95255 (Reactome details) participates in the following event(s):

R-HSA-1454916 The ABCC family mediates organic anion transport
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ARA, MRP6, MRP6_HUMAN, NR_147784, O95255, P78420, Q9UMZ7, uc059rgl.1
UCSC ID: uc059rgl.1
RefSeq Accession: NM_001171
Protein: O95255 (aka MRP6_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ABCC6:
gaci (Generalized Arterial Calcification of Infancy)
pxe (Pseudoxanthoma Elasticum)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.