Human Gene ABCC1 (uc010bvi.3)
  Description: Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), mRNA.
RefSeq Summary (NM_004996): 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). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extend of this transcript is supported by transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr16:16,043,434-16,236,930 Size: 193,497 Total Exon Count: 31 Strand: +
Coding Region
   Position: hg19 chr16:16,043,609-16,235,138 Size: 191,530 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:16,043,434-16,236,930)mRNA (may differ from genome)Protein (1531 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MRP1_HUMAN
DESCRIPTION: RecName: Full=Multidrug resistance-associated protein 1; AltName: Full=ATP-binding cassette sub-family C member 1; AltName: Full=Leukotriene C(4) transporter; Short=LTC4 transporter;
FUNCTION: Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o- glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Lung, testis and peripheral blood mononuclear cells.
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.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MRPID106.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/abcc1/";
WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33527";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ABCC1
CDC HuGE Published Literature: ABCC1
Positive Disease Associations: cardiotoxicity, anthracycline-induced , Hypertension
Related Studies:
  1. cardiotoxicity, anthracycline-induced
    Wojnowski, L. et al. 2005, NAD(P)H Oxidase and Multidrug Resistance Protein Genetic Polymorphisms Are Associated With Doxorubicin-Induced Cardiotoxicity, Circulation. 2005 Dec;112(24):3754-62. [PubMed 16330681]
    Genetic variants in doxorubicin transport and free radical metabolism may modulate the individual risk to develop ACT.
  2. Hypertension
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: ABCC1
Diseases sorted by gene-association score: dubin-johnson syndrome (19), microsporidiosis (12), pseudoxanthoma elasticum (12), uterine sarcoma (10), colchicine resistance (9), extrahepatic cholestasis (6), lung cancer (6), cervix carcinoma (5), bilirubin metabolic disorder (4), ovarian cancer, somatic (3), cystic fibrosis (2), small cell cancer of the lung, somatic (2), colorectal cancer (2), leukemia, acute lymphoblastic (1), leukemia, acute promyelocytic, somatic (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.50 RPKM in Esophagus - Muscularis
Total median expression: 435.41 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 -87.90175-0.502 Picture PostScript Text
3' UTR -595.721792-0.332 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:
PF00005 - ABC transporter
PF00664 - ABC transporter transmembrane region

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
90123 - Multidrug resistance ABC transporter MsbA, N-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CBZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P33527
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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
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004012 phospholipid-translocating ATPase activity
GO:0005215 transporter activity
GO:0005524 ATP binding
GO:0008559 xenobiotic-transporting ATPase activity
GO:0015420 cobalamin-transporting ATPase activity
GO:0015431 glutathione S-conjugate-exporting ATPase activity
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0022857 transmembrane transporter activity
GO:0034634 glutathione transmembrane transporter activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0043225 ATPase-coupled anion transmembrane transporter activity
GO:0046623 sphingolipid-translocating ATPase activity

Biological Process:
GO:0006691 leukotriene metabolic process
GO:0006855 drug transmembrane transport
GO:0009235 cobalamin metabolic process
GO:0015889 cobalamin transport
GO:0034775 glutathione transmembrane transport
GO:0042493 response to drug
GO:0042908 xenobiotic transport
GO:0045332 phospholipid translocation
GO:0055085 transmembrane transport
GO:0060326 cell chemotaxis
GO:0099039 sphingolipid translocation
GO:0099133 ATP hydrolysis coupled anion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  L05628 - Human multidrug resistance-associated protein (MRP) mRNA, complete cds.
LF385100 - JP 2014500723-A/192603: Polycomb-Associated Non-Coding RNAs.
X78338 - Synthetic adenovirus transformed human retina cell line, MRP mRNA.
BC157105 - Synthetic construct Homo sapiens clone IMAGE:100063435, MGC:190779 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1) mRNA, encodes complete protein.
BC156353 - Synthetic construct Homo sapiens clone IMAGE:100061863, MGC:190117 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1) mRNA, encodes complete protein.
CR749835 - Homo sapiens mRNA; cDNA DKFZp781G125 (from clone DKFZp781G125).
AB209120 - Homo sapiens mRNA for ATP-binding cassette, sub-family C, member 1 isoform 1 variant protein.
AK311015 - Homo sapiens cDNA, FLJ18057.
MA620677 - JP 2018138019-A/192603: Polycomb-Associated Non-Coding RNAs.
JD124927 - Sequence 105951 from Patent EP1572962.
LF338458 - JP 2014500723-A/145961: Polycomb-Associated Non-Coding RNAs.
LF338459 - JP 2014500723-A/145962: Polycomb-Associated Non-Coding RNAs.
LF338461 - JP 2014500723-A/145964: Polycomb-Associated Non-Coding RNAs.
LF338462 - JP 2014500723-A/145965: Polycomb-Associated Non-Coding RNAs.
MA574035 - JP 2018138019-A/145961: Polycomb-Associated Non-Coding RNAs.
MA574036 - JP 2018138019-A/145962: Polycomb-Associated Non-Coding RNAs.
MA574038 - JP 2018138019-A/145964: Polycomb-Associated Non-Coding RNAs.
MA574039 - JP 2018138019-A/145965: Polycomb-Associated Non-Coding RNAs.
LF338465 - JP 2014500723-A/145968: Polycomb-Associated Non-Coding RNAs.
LF338467 - JP 2014500723-A/145970: Polycomb-Associated Non-Coding RNAs.
LF338468 - JP 2014500723-A/145971: Polycomb-Associated Non-Coding RNAs.
HQ917065 - Homo sapiens ATP-binding cassette transporter variant ABCC1delta-ex13&14 (ABCC1) mRNA, partial cds, alternatively spliced.
HQ917064 - Homo sapiens ATP-binding cassette transporter variant ABCC1delta-ex13 (ABCC1) mRNA, partial cds, alternatively spliced.
LF338469 - JP 2014500723-A/145972: Polycomb-Associated Non-Coding RNAs.
AK097871 - Homo sapiens cDNA FLJ40552 fis, clone THYMU2002203.
BX648866 - Homo sapiens mRNA; cDNA DKFZp686N04233 (from clone DKFZp686N04233).
LF338470 - JP 2014500723-A/145973: Polycomb-Associated Non-Coding RNAs.
LF338473 - JP 2014500723-A/145976: Polycomb-Associated Non-Coding RNAs.
LF338475 - JP 2014500723-A/145978: Polycomb-Associated Non-Coding RNAs.
LF338476 - JP 2014500723-A/145979: Polycomb-Associated Non-Coding RNAs.
LF338479 - JP 2014500723-A/145982: Polycomb-Associated Non-Coding RNAs.
LF338482 - JP 2014500723-A/145985: Polycomb-Associated Non-Coding RNAs.
LF338483 - JP 2014500723-A/145986: Polycomb-Associated Non-Coding RNAs.
LF338484 - JP 2014500723-A/145987: Polycomb-Associated Non-Coding RNAs.
LF338485 - JP 2014500723-A/145988: Polycomb-Associated Non-Coding RNAs.
HQ917067 - Homo sapiens ATP-binding cassette transporter variant ABCC1delta-ex25 (ABCC1) mRNA, partial cds, alternatively spliced.
HQ917066 - Homo sapiens ATP-binding cassette transporter variant ABCC1delta-ex25&26 (ABCC1) mRNA, partial cds, alternatively spliced.
BC001636 - Homo sapiens, clone IMAGE:3355848, mRNA, partial cds.
LF338489 - JP 2014500723-A/145992: Polycomb-Associated Non-Coding RNAs.
JD275594 - Sequence 256618 from Patent EP1572962.
LF338490 - JP 2014500723-A/145993: Polycomb-Associated Non-Coding RNAs.
JD065333 - Sequence 46357 from Patent EP1572962.
JD476510 - Sequence 457534 from Patent EP1572962.
JD354095 - Sequence 335119 from Patent EP1572962.
AJ003198 - Homo sapiens mRNA for ATP-dependent transport protein, 3'UTR.
JD103020 - Sequence 84044 from Patent EP1572962.
JD396252 - Sequence 377276 from Patent EP1572962.
JD226553 - Sequence 207577 from Patent EP1572962.
LF338491 - JP 2014500723-A/145994: Polycomb-Associated Non-Coding RNAs.
JD043199 - Sequence 24223 from Patent EP1572962.
JD265841 - Sequence 246865 from Patent EP1572962.
JD413293 - Sequence 394317 from Patent EP1572962.
JD287821 - Sequence 268845 from Patent EP1572962.
JD513850 - Sequence 494874 from Patent EP1572962.
JD170919 - Sequence 151943 from Patent EP1572962.
JD174480 - Sequence 155504 from Patent EP1572962.
JD122496 - Sequence 103520 from Patent EP1572962.
JD040460 - Sequence 21484 from Patent EP1572962.
JD351390 - Sequence 332414 from Patent EP1572962.
JD073607 - Sequence 54631 from Patent EP1572962.
JD307499 - Sequence 288523 from Patent EP1572962.
JD288684 - Sequence 269708 from Patent EP1572962.
JD109876 - Sequence 90900 from Patent EP1572962.
JD227138 - Sequence 208162 from Patent EP1572962.
JD038703 - Sequence 19727 from Patent EP1572962.
JD071852 - Sequence 52876 from Patent EP1572962.
JD465081 - Sequence 446105 from Patent EP1572962.
JD385429 - Sequence 366453 from Patent EP1572962.
JD258979 - Sequence 240003 from Patent EP1572962.
JD565706 - Sequence 546730 from Patent EP1572962.
JD260655 - Sequence 241679 from Patent EP1572962.
JD155962 - Sequence 136986 from Patent EP1572962.
JD057749 - Sequence 38773 from Patent EP1572962.
JD328643 - Sequence 309667 from Patent EP1572962.
JD224648 - Sequence 205672 from Patent EP1572962.
LF338492 - JP 2014500723-A/145995: Polycomb-Associated Non-Coding RNAs.
LF338493 - JP 2014500723-A/145996: Polycomb-Associated Non-Coding RNAs.
LF338494 - JP 2014500723-A/145997: Polycomb-Associated Non-Coding RNAs.
MA574042 - JP 2018138019-A/145968: Polycomb-Associated Non-Coding RNAs.
MA574044 - JP 2018138019-A/145970: Polycomb-Associated Non-Coding RNAs.
MA574045 - JP 2018138019-A/145971: Polycomb-Associated Non-Coding RNAs.
MA574046 - JP 2018138019-A/145972: Polycomb-Associated Non-Coding RNAs.
MA574047 - JP 2018138019-A/145973: Polycomb-Associated Non-Coding RNAs.
MA574050 - JP 2018138019-A/145976: Polycomb-Associated Non-Coding RNAs.
MA574052 - JP 2018138019-A/145978: Polycomb-Associated Non-Coding RNAs.
MA574053 - JP 2018138019-A/145979: Polycomb-Associated Non-Coding RNAs.
MA574056 - JP 2018138019-A/145982: Polycomb-Associated Non-Coding RNAs.
MA574059 - JP 2018138019-A/145985: Polycomb-Associated Non-Coding RNAs.
MA574060 - JP 2018138019-A/145986: Polycomb-Associated Non-Coding RNAs.
MA574061 - JP 2018138019-A/145987: Polycomb-Associated Non-Coding RNAs.
MA574062 - JP 2018138019-A/145988: Polycomb-Associated Non-Coding RNAs.
MA574066 - JP 2018138019-A/145992: Polycomb-Associated Non-Coding RNAs.
MA574067 - JP 2018138019-A/145993: Polycomb-Associated Non-Coding RNAs.
MA574068 - JP 2018138019-A/145994: Polycomb-Associated Non-Coding RNAs.
MA574069 - JP 2018138019-A/145995: Polycomb-Associated Non-Coding RNAs.
MA574070 - JP 2018138019-A/145996: Polycomb-Associated Non-Coding RNAs.
MA574071 - JP 2018138019-A/145997: Polycomb-Associated Non-Coding RNAs.

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

BioCarta from NCI Cancer Genome Anatomy Project
h_mrpPathway - Multi-Drug Resistance Factors

Reactome (by CSHL, EBI, and GO)

Protein P33527 (Reactome details) participates in the following event(s):

R-HSA-266070 LTC4 is exported from the cytosol by ABCC1
R-HSA-3095901 ABCC1 transports cytosolic Cbl to extracellular region
R-HSA-1454916 The ABCC family mediates organic anion transport
R-HSA-2142691 Synthesis of Leukotrienes (LT) and Eoxins (EX)
R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-2142753 Arachidonic acid metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-382551 Transport of small molecules
R-HSA-8978868 Fatty acid metabolism
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A3RJX2, C9JPJ4, MRP, MRP1, MRP1_HUMAN, NM_004996, NP_004987, O14819, O43333, P33527, P78419, Q59GI9, Q9UQ97, Q9UQ99, Q9UQA0, uc010bvm.3
UCSC ID: uc010bvi.3
RefSeq Accession: NM_004996
Protein: P33527 (aka MRP1_HUMAN)
CCDS: CCDS42122.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004996.3
exon count: 31CDS single in 3' UTR: no RNA size: 6564
ORF size: 4596CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 8336.00frame shift in genome: no % Coverage: 99.98
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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