Human Gene ABCC4 (ENST00000645237.2) from GENCODE V44
  Description: Homo sapiens ATP binding cassette subfamily C member 4 (ABCC4), transcript variant 1, mRNA. (from RefSeq NM_005845)
RefSeq Summary (NM_005845): 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. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014].
Gencode Transcript: ENST00000645237.2
Gencode Gene: ENSG00000125257.16
Transcript (Including UTRs)
   Position: hg38 chr13:95,019,835-95,301,451 Size: 281,617 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg38 chr13:95,021,575-95,301,314 Size: 279,740 Coding Exon Count: 31 

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 (chr13:95,019,835-95,301,451)mRNA (may differ from genome)Protein (1325 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MRP4_HUMAN
DESCRIPTION: RecName: Full=Multidrug resistance-associated protein 4; AltName: Full=ATP-binding cassette sub-family C member 4; AltName: Full=MRP/cMOAT-related ABC transporter; AltName: Full=Multi-specific organic anion transporter B; Short=MOAT-B;
FUNCTION: May be an organic anion pump relevant to cellular detoxification.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Widely expressed, with particularly high levels in prostate, but is barely detectable in liver.
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=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O15439";

-  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: ABCC4
Diseases sorted by gene-association score: abcc4-related altered drug metabolism* (100), biliary tract disease (14), dubin-johnson syndrome (13), cholestasis (9), unilateral retinoblastoma (6), bile duct disease (4)
* = 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: 12.04 RPKM in Bladder
Total median expression: 95.42 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 -61.70137-0.450 Picture PostScript Text
3' UTR -406.701740-0.234 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

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

ModBase Predicted Comparative 3D Structure on O15439
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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
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0015662 ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism
GO:0016404 15-hydroxyprostaglandin dehydrogenase (NAD+) activity
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
GO:0043225 ATPase-coupled anion transmembrane transporter activity

Biological Process:
GO:0002576 platelet degranulation
GO:0008150 biological_process
GO:0032310 prostaglandin secretion
GO:0055085 transmembrane transport
GO:0055114 oxidation-reduction process
GO:0060271 cilium assembly
GO:0099131 ATP hydrolysis coupled ion 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
GO:0031088 platelet dense granule membrane


-  Descriptions from all associated GenBank mRNAs
  BX647118 - Homo sapiens mRNA; cDNA DKFZp686O08144 (from clone DKFZp686O08144).
AY081219 - Homo sapiens multidrug resistance-associated protein (ABCC4) mRNA, complete cds.
AK309460 - Homo sapiens cDNA, FLJ99501.
AF071203 - Homo sapiens ABC transporter MOAT-B isoform (MOAT-B) mRNA, partial cds.
AF071202 - Homo sapiens ABC transporter MOAT-B (MOAT-B) mRNA, complete cds.
AF541977 - Homo sapiens ATP-binding cassette protein C4 splice variant A (ABCC4) mRNA, complete cds; alternatively spliced.
AY207008 - Homo sapiens ATP-binding cassette transporter C4 (ABCC4) mRNA, complete cds.
U83660 - Human multidrug resistance-associated protein homolog (MRP4) mRNA, partial cds.
AK296247 - Homo sapiens cDNA FLJ52311 complete cds, highly similar to Multidrug resistance-associated protein 4.
AK290317 - Homo sapiens cDNA FLJ77042 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4, mRNA.
BC041560 - Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4, mRNA (cDNA clone MGC:52221 IMAGE:5812052), complete cds.
AB208973 - Homo sapiens mRNA for ABCC4 protein variant protein.
AY133678 - Homo sapiens ATP-binding cassette subfamily C member 4 variant 2 (ABCC4) mRNA, complete cds, alternatively spliced.
AY133679 - Homo sapiens ATP-binding cassette subfamily C member 4 variant 1 (ABCC4) mRNA, complete cds, alternatively spliced.
AY133680 - Homo sapiens ATP-binding cassette subfamily C member 4 variant 3 (ABCC4) mRNA, complete cds, alternatively spliced.
AK298953 - Homo sapiens cDNA FLJ58088 complete cds, highly similar to Multidrug resistance-associated protein 4.
AF339763 - Homo sapiens clone IMAGE:1058325, mRNA sequence.
JD555208 - Sequence 536232 from Patent EP1572962.
U66686 - Homo sapiens clone EST205858 mRNA sequence.
U66682 - Homo sapiens clone EST170205 mRNA sequence.

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

Reactome (by CSHL, EBI, and GO)

Protein O15439 (Reactome details) participates in the following event(s):

R-HSA-429157 ABCC4 accumulation of dense granule contents
R-HSA-1454916 The ABCC family mediates organic anion transport
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-382551 Transport of small molecules
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A9Z1Z7, ENST00000645237.1, MRP4, MRP4_HUMAN, NM_005845, O15439, Q8IVZ4, Q8IZN6, Q8NEW8, Q9Y6J2, uc001vmd.1, uc001vmd.2, uc001vmd.3, uc001vmd.4, uc001vmd.5, uc001vmd.6, uc001vmd.7
UCSC ID: ENST00000645237.2
RefSeq Accession: NM_005845
Protein: O15439 (aka MRP4_HUMAN)
CCDS: CCDS9474.1

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