Human Gene ABCC3 (ENST00000427699.5) from GENCODE V44
  Description: Homo sapiens ATP binding cassette subfamily C member 3 (ABCC3), transcript variant 2, mRNA. (from RefSeq NM_001144070)
RefSeq Summary (NM_001144070): 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 protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000427699.5
Gencode Gene: ENSG00000108846.16
Transcript (Including UTRs)
   Position: hg38 chr17:50,634,857-50,667,923 Size: 33,067 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr17:50,634,937-50,667,841 Size: 32,905 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:50,634,857-50,667,923)mRNA (may differ from genome)Protein (572 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MRP3_HUMAN
DESCRIPTION: RecName: Full=Canalicular multispecific organic anion transporter 2; AltName: Full=ATP-binding cassette sub-family C member 3; AltName: Full=Multi-specific organic anion transporter D; Short=MOAT-D; AltName: Full=Multidrug resistance-associated protein 3;
FUNCTION: May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Mainly expressed in the liver. Also expressed in small intestine, colon, prostate, testis, brain and at a lower level in the kidney.
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=AAB71756.1; Type=Frameshift; Positions=1334, 1338; Sequence=AAD01430.1; Type=Frameshift; Positions=355, 359, 361; Sequence=AAD38185.1; Type=Erroneous translation; Note=Wrong choice of CDS;
WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O15438";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: ABCC3
Diseases sorted by gene-association score: dubin-johnson syndrome (24), extrahepatic cholestasis (23), cholangiolocellular carcinoma (13), cholestasis (10), bile duct carcinoma (7), bile duct disease (5), biliary tract disease (4), hepatocellular carcinoma (2)

-  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: 90.11 RPKM in Adrenal Gland
Total median expression: 433.06 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 -34.4080-0.430 Picture PostScript Text
3' UTR -24.5082-0.299 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 O15438
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:0005524 ATP binding
GO:0008514 organic anion transmembrane transporter activity
GO:0008559 xenobiotic-transporting ATPase activity
GO:0015432 bile acid-exporting ATPase activity
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:0006855 drug transmembrane transport
GO:0015721 bile acid and bile salt transport
GO:0015722 canalicular bile acid transport
GO:0042908 xenobiotic transport
GO:0055085 transmembrane transport
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


-  Descriptions from all associated GenBank mRNAs
  BC046126 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3, mRNA (cDNA clone IMAGE:5212832), partial cds.
AF009670 - Homo sapiens multidrug resistance-associated protein homolog MRP3 (MRP3) mRNA, complete cds.
Y17151 - Homo sapiens mRNA for multidrug resistance protein 3 (ABCC3).
BC058907 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3, mRNA (cDNA clone IMAGE:5214188).
AF085690 - Homo sapiens multidrug resistance-associated protein 3 (MRP3) mRNA, complete cds.
AF085691 - Homo sapiens multidrug resistance-associated protein 3A (MRP3) mRNA, complete cds.
AF085692 - Homo sapiens multidrug resistance-associated protein 3B (MRP3) mRNA, complete cds.
BC104952 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3, mRNA (cDNA clone IMAGE:8143955), partial cds.
JD151858 - Sequence 132882 from Patent EP1572962.
BC137347 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3, mRNA (cDNA clone MGC:168968 IMAGE:9021345), complete cds.
BC137348 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3, mRNA (cDNA clone MGC:168969 IMAGE:9021346), complete cds.
AB208954 - Homo sapiens mRNA for ATP-binding cassette, sub-family C, member 3 isoform MRP3 variant protein.
JD187230 - Sequence 168254 from Patent EP1572962.
AF083552 - Homo sapiens canalicular multispecific organic anion transporter 2 (CMOAT2) mRNA, complete cds.
AB010887 - Homo sapiens mRNA for multidrug resistance-associated protein(MRP)-like protein-2 (MLP-2), complete cds.
KJ892604 - Synthetic construct Homo sapiens clone ccsbBroadEn_01998 ABCC3 gene, encodes complete protein.
BC050370 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3, mRNA (cDNA clone IMAGE:5761266), partial cds.
AF104943 - Homo sapiens ABC transporter MOAT-D (MOAT-D) mRNA, complete cds.
AB384796 - Synthetic construct DNA, clone: pF1KB3349, Homo sapiens ABCC3 gene for ATP-binding cassette, sub-family C member 3, complete cds, without stop codon, in Flexi system.
BX649137 - Homo sapiens mRNA; cDNA DKFZp686E22157 (from clone DKFZp686E22157).
BC127655 - Homo sapiens chromobox homolog 2 (Pc class homolog, Drosophila), mRNA (cDNA clone IMAGE:40119320), with apparent retained intron.
BC131755 - Homo sapiens ninjurin 2, mRNA (cDNA clone IMAGE:40119218).
JD400462 - Sequence 381486 from Patent EP1572962.
JD110883 - Sequence 91907 from Patent EP1572962.
JD537833 - Sequence 518857 from Patent EP1572962.
JD211218 - Sequence 192242 from Patent EP1572962.
JD470437 - Sequence 451461 from Patent EP1572962.

-  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
h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity

Reactome (by CSHL, EBI, and GO)

Protein O15438 (Reactome details) participates in the following event(s):

R-HSA-194153 Transport (efflux) of bile salts by ABCC3 (MRP3)
R-HSA-1454916 The ABCC family mediates organic anion transport
R-HSA-159418 Recycling of bile acids and salts
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-194068 Bile acid and bile salt metabolism
R-HSA-382551 Transport of small molecules
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2RPA9, CMOAT2, D3DTX9, ENST00000427699.1, ENST00000427699.2, ENST00000427699.3, ENST00000427699.4, MLP2, MRP3, MRP3_HUMAN, NM_001144070, O15438, O60265, O60922, O75621, O95078, O95289, O95290, Q86X85, Q9UN52, uc002isk.1, uc002isk.2, uc002isk.3, uc002isk.4, uc002isk.5
UCSC ID: ENST00000427699.5
RefSeq Accession: NM_001144070
Protein: O15438 (aka MRP3_HUMAN)
CCDS: CCDS45739.1

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