Human Gene ABCC1 (uc002del.4) Description and Page Index
  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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X78338.1, L05628.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000399410.8/ ENSP00000382342.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:16,103,633-16,236,930 Size: 133,298 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr16:16,103,756-16,235,138 Size: 131,383 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:16,103,633-16,236,930)mRNA (may differ from genome)Protein (1425 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: I3L4X2_HUMAN
DESCRIPTION: SubName: Full=Multidrug resistance-associated protein 1; Flags: Fragment;
SIMILARITY: Belongs to the ABC transporter superfamily.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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 -43.00123-0.350 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

ModBase Predicted Comparative 3D Structure on I3L4X2
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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

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

Biological Process:
GO:0055085 transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  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.
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.
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

-  Other Names for This Gene
  Alternate Gene Symbols: AB209120, I3L4X2, I3L4X2_HUMAN, NM_004996, NP_004987
UCSC ID: uc002del.4
RefSeq Accession: NM_004996
Protein: I3L4X2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB209120.1
exon count: 30CDS single in 3' UTR: no RNA size: 4565
ORF size: 4278CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 8048.00frame shift in genome: no % Coverage: 100.00
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.