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28 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABCC1
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
Chromosome 16 · 16p13.11
NCBI Gene: 4363Ensembl: ENSG00000103222.20HGNC: HGNC:51UniProt: A0A7I2V2E0
453PubMed Papers
1Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
carboxylic acid transmembrane transportABC-type vitamin B12 transporter activityefflux transmembrane transporter activityATPase-coupled lipid transmembrane transporter activityDeafness, autosomal dominant, 77
✦AI Summary

ABCC1 (ATP-binding cassette subfamily C member 1) is a multidrug resistance protein that mediates ATP-dependent export of diverse substrates from cells. The protein functions as a transporter for glutathione conjugates, organic anions, and various xenobiotics including chemotherapeutic agents 1. Recent structural studies reveal that ABCC1 forms homodimers and recognizes substrates through a positively charged binding pocket 2. ABCC1 plays a critical role in cancer drug resistance by reducing intracellular drug accumulation, with elevated expression observed across multiple tumor types 13. The transporter exhibits unique regulatory functions, including export of cyclic GMP-AMP (cGAMP) which negatively regulates the cGAS-STING innate immune pathway 2. ABCC1 also mediates cAMP efflux in airway smooth muscle cells, influencing cellular relaxation and potentially asthma pathophysiology 4. In glioblastoma, high ABCC1 expression paradoxically sensitizes cells to ferroptosis while conferring temozolomide resistance 5. The gene is transcriptionally regulated by ΔNp63 in squamous cell carcinomas and shows therapeutic potential in lysosomal storage disorders like Tay-Sachs disease 67. These diverse functions establish ABCC1 as a key regulator of cellular homeostasis and drug resistance.

Sources cited
1
ABCC1 confers multidrug resistance in cancer by reducing intracellular drug accumulation
PMID: 29643473
2
ABCC1 forms homodimers and exports cGAMP through a positively charged binding pocket, regulating innate immunity
PMID: 39765229
3
ABCC1 mediates resistance to KRAS-G12C inhibitors through JUN-driven expression
PMID: 39661665
4
High ABCC1 expression sensitizes glioblastoma cells to ferroptosis while conferring temozolomide resistance
PMID: 35803910
5
ABCC1 mediates cAMP efflux in airway smooth muscle cells, affecting cellular relaxation
PMID: 34648729
6
ABCC1 is a ΔNp63 target gene overexpressed in squamous cell carcinomas
PMID: 39201428
7
ABCC1 activation ameliorates synaptic dysfunction in Tay-Sachs disease neurons
PMID: 40946809
Disease Associationsⓘ1
Deafness, autosomal dominant, 77UniProt
Pathogenic Variants1
NM_004996.4(ABCC1):c.1769A>G (p.Asn590Ser)Pathogenic
Hearing loss, autosomal dominant 77
☆☆☆☆2020→ Residue 590
View on ClinVar ↗
Related Genes
MVPProtein interaction70%LTB4R2Protein interaction70%ABCG2Protein interaction60%ABCB1Shared pathway32%ABCC2Shared pathway27%ABCC3Shared pathway24%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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ABCC1MVPLTB4R2ABCG2ABCB1ABCC2ABCC3
PROTEIN STRUCTURE
Preparing viewer…
PDB2CBZ · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.39–0.56]
RankingsWhere ABCC1 stands among ~20K protein-coding genes
  • #603of 20,598
    Most Researched453 · top 5%
  • #4,625of 5,498
    Most Pathogenic Variants1
  • #3,671of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedABCC1
Sources retrieved28 papers
Response time—
📄 Sources
28▼
1
Epigenetic regulation during cancer transitions across 11 tumour types.
PMID: 37914932
Nature · 2023
1.00
2
Revisiting the role of ABC transporters in multidrug-resistant cancer.
PMID: 29643473
Nat Rev Cancer · 2018
0.90
3
SRC kinase drives multidrug resistance induced by KRAS-G12C inhibition.
PMID: 39661665
Sci Adv · 2024
0.80
4
Modulation of ABCC1 and ABCG2 proteins by ouabain in human breast cancer cells.
PMID: 24596392
Anticancer Res · 2014
0.76
5
Differential gene expression profiles of normal human parotid and submandibular glands.
PMID: 18826381
Oral Dis · 2008
0.72