ABCC3 ATP binding cassette subfamily C member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCC3provided by HGNC
Official Full Name: ATP binding cassette subfamily C member 3provided by HGNC
Primary source: HGNC:HGNC:54
See related: Ensembl:ENSG00000108846 MIM:604323; AllianceGenome:HGNC:54
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MLP2; MRP3; ABC31; MOAT-D; cMOAT2; EST90757
Summary: 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]
Expression: Broad expression in adrenal (RPKM 32.2), stomach (RPKM 26.9) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50634881..50692253)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (51502046..51559449)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48712242..48769614)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of ABCC3 activates MAPK signaling through accumulation of deoxycholic acid in colorectal cancer cells.
Title: Downregulation of ABCC3 activates MAPK signaling through accumulation of deoxycholic acid in colorectal cancer cells.
SMARCA4 (BRG1) activates ABCC3 transcription to promote hepatocellular carcinogenesis.
Title: SMARCA4 (BRG1) activates ABCC3 transcription to promote hepatocellular carcinogenesis.
Association Study of SLCO1B3 and ABCC3 Genetic Variants in Gallstone Disease.
Title: Association Study of SLCO1B3 and ABCC3 Genetic Variants in Gallstone Disease.
The Role of TRIP6, ABCC3 and CPS1 Expression in Resistance of Ovarian Cancer to Taxanes.
Title: The Role of TRIP6, ABCC3 and CPS1 Expression in Resistance of Ovarian Cancer to Taxanes.
Effect of bile acids on the expression of MRP3 and MRP4: An In vitro study in HepG2 cell line.
Title: Effect of bile acids on the expression of MRP3 and MRP4: An In vitro study in HepG2 cell line.
CircABCC3 knockdown inhibits glioblastoma cell malignancy by regulating miR-770-5p/SOX2 axis through PI3K/AKT signaling pathway.
Title: CircABCC3 knockdown inhibits glioblastoma cell malignancy by regulating miR-770-5p/SOX2 axis through PI3K/AKT signaling pathway.
Prevalence of ABCC3-1767G/A polymorphism among patients with antiretroviral-associated hepatotoxicity.
Title: Prevalence of ABCC3-1767G/A polymorphism among patients with antiretroviral-associated hepatotoxicity.
ABCC3 is a novel target for the treatment of pancreatic cancer.
Title: ABCC3 is a novel target for the treatment of pancreatic cancer.
Low expression of MRP3 is associated with Hepatocellular Carcinoma and in Cholangiocarcinoma.
Title: Immunohistochemical Assessment of the Expression of Biliary Transportation Proteins MRP2 and MRP3 in Hepatocellular Carcinoma and in Cholangiocarcinoma.
OATPB1/B3 and MRP3 immunohistochemistry and signal intensity on hepatobiliary phase Gd-EOB-DTPA-enhanced MRI can help to stratify hepatocellular adenoma according to their risk of malignant transformation.
Title: OATPB1/B3 and MRP3 expression in hepatocellular adenoma predicts Gd-EOB-DTPA uptake and correlates with risk of malignancy.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-144981 (e-PCR)
- UniSTS:174351

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-172087 (e-PCR)
- UniSTS:183111

G67864 (e-PCR)
- UniSTS:225631

ABCC3_2390 (e-PCR)
- UniSTS:280422

D1S1425 (e-PCR)
- UniSTS:149621

GDB:315953 (e-PCR)
- UniSTS:156553

STS-W86661 (e-PCR)
- UniSTS:80297

STS-W86661 (e-PCR)
- UniSTS:66485

ABCC3_1044 (e-PCR)
- UniSTS:276951

NoName (e-PCR)
- UniSTS:484311

RH45401 (e-PCR)
- UniSTS:73977

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type bile acid transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ABC-type bile acid transporter activity	TAS Traceable Author Statement more info
enables ABC-type glutathione S-conjugate transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ABC-type transporter activity	TAS Traceable Author Statement more info
enables ABC-type xenobiotic transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ABC-type xenobiotic transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled inorganic anion transmembrane transporter activity	TAS Traceable Author Statement more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase-coupled transmembrane transporter activity	TAS Traceable Author Statement more info
enables glucuronoside transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables icosanoid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in bile acid and bile salt transport	TAS Traceable Author Statement more info
involved_in glucuronoside transport	IEA Inferred from Electronic Annotation more info
involved_in leukotriene transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	TAS Traceable Author Statement more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info
involved_in xenobiotic transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ATP-binding cassette sub-family C member 3

Names: ATP-binding cassette, sub-family C (CFTR/MRP), member 3; canalicular multispecific organic anion transporter 2; canicular multispecific organic anion transporter; multi-specific organic anion transporter D; multidrug resistance associated protein; multidrug resistance-associated protein 3

NP_001137542.1

EC 7.6.2.2

EC 7.6.2.3

NP_003777.2

EC 7.6.2.2

EC 7.6.2.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001144070.2 → NP_001137542.1 ATP-binding cassette sub-family C member 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks multiple 3' exons and has an alternate 3' sequence, as compared to variant 1. The resulting isoform (2) is much shorter and has a different C-terminus, as compared to isoform 1.

Source sequence(s)

BC046126, BC050370, BC058907

Consensus CDS

CCDS45739.1

UniProtKB/TrEMBL

Q86VN9

Related

ENSP00000395160.1, ENST00000427699.5

Conserved Domains (1) summary

cl00549
Location:317 → 546

ABC_membrane; ABC transporter transmembrane region
NM_003786.4 → NP_003777.2 ATP-binding cassette sub-family C member 3 isoform 1

See identical proteins and their annotated locations for NP_003777.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB010887, AC005921, BC046126, BC137347

Consensus CDS

CCDS32681.1

UniProtKB/Swiss-Prot

B2RPA9, D3DTX9, O15438, O60265, O60922, O75621, O95078, O95289, O95290, Q86X85, Q9UN52

UniProtKB/TrEMBL

Q59H05

Related

ENSP00000285238.8, ENST00000285238.13

Conserved Domains (1) summary

cl26602
Location:7 → 1526

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

50634881..50692253

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

51502046..51559449

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_020037.1: Suppressed sequence

Description

NM_020037.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_020038.1: Suppressed sequence

Description

NM_020038.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.