ABCC1

Chr 16p13.11

ATP binding cassette subfamily C member 1 (ABCC1 blood group)

Aliases:: GS-X
MANE:: ENST00000399410.8

OMIM: 158343 ↗NCBI: 4363 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ABCC1 · P33527

v62025-08-01

Predicted Aligned Error matrix for ABCC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

1,531 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)47%
Low(50–70)4%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COVID-19 research
Unknown

Disease associations (Open Targets)

Abnormality of the skeletal system
0.50
hearing loss, autosomal dominant 77
0.50
hereditary breast carcinoma
0.48
Hereditary breast cancer
0.48
autosomal dominant nonsyndromic hearing loss
0.41
alcohol drinking
0.32
ischemic stroke
0.31
diaphragm disorder
0.26
Abnormality of prenatal development or birth
0.22
nonsyndromic deafness
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Multidrug resistance-associated protein 1

Mediates export of organic anions and drugs from the cytoplasm (PubMed:10064732, PubMed:11114332, PubMed:16230346, PubMed:7961706, PubMed:9281595). Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics (PubMed:10064732, PubMed:11114332, PubMed:16230346, PubMed:7961706, PubMed:9281595). Confers resistance to anticancer drugs by decreasing accumulation of drug in cells, and by mediating ATP- and GSH-dependent drug export (PubMed:9281595). Hydrolyzes ATP with low efficiency (PubMed:16230346). Catalyzes the export of sphingosine 1-phosphate from mast cells independently of their degranulation (PubMed:17050692). Participates in inflammatory response by allowing export of leukotriene C4 from leukotriene C4-synthesizing cells (By similarity). Mediates ATP-dependent, GSH-independent cyclic GMP-AMP (cGAMP) export (PubMed:36070769). Thus, by limiting intracellular cGAMP concentrations negatively regulates the cGAS-STING pathway (PubMed:36070769). Exports S-geranylgeranyl-glutathione (GGG) in lymphoid cells and stromal compartments of lymphoid organs. ABCC1 (via extracellular transport) with GGT5 (via GGG catabolism) establish GGG gradients within lymphoid tissues to position P2RY8-positive lymphocytes at germinal centers in lymphoid follicles and restrict their chemotactic transmigration from blood vessels to the bone marrow parenchyma (By similarity). Mediates basolateral export of GSH-conjugated R- and S-prostaglandin A2 diastereomers in polarized epithelial cells (PubMed:9426231)