ABCC6
entrez
368
canonical
uniprot
O95255
canonical
ensembl
ENSG00000091262
resolver
ensembl
ENSG00000275331
resolver
ensp
ENSP00000205557
resolver
ensp
ENSP00000461686
resolver
ensp
ENSP00000579143
resolver
ensp
ENSP00000579145
resolver
genesymbol
ABCC6
resolver
genesymbol_syn
ARA
resolver
genesymbol_syn
MRP6
resolver
hgnc
HGNC:57
resolver
uniprot
A2RRN8
resolver
uniprot
A8KIG6
resolver
uniprot
A8Y988
resolver
uniprot
E7ESW8
resolver
uniprot
P78420
resolver
uniprot
Q8TCY8
resolver
uniprot
Q9UMZ7
resolver
uniprot_entry
MRP6_HUMAN
resolver
uniprot_sec
A2RRN8
resolver
uniprot_sec
A8KIG6
resolver
uniprot_sec
A8Y988
resolver
uniprot_sec
E7ESW8
resolver
uniprot_sec
P78420
resolver
uniprot_sec
Q8TCY8
resolver
uniprot_sec
Q9UMZ7
resolver
activity_regulation
ACTIVITY REGULATION: LTC4 transport is completely inhibited by 1 mM orthovanadate. {ECO:0000269|PubMed:11880368}.
uniprot
proteins
amino_acid_sequence
MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRLTESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRTTSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVASFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWPQGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQLKALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQMQAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQESGLV
uniprot
proteins
disease_involvement
DISEASE: Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO:0000269|PubMed:10811882, ECO:0000269|PubMed:10835642, ECO:0000269|PubMed:10954200, ECO:0000269|PubMed:11427982, ECO:0000269|PubMed:11536079, ECO:0000269|PubMed:11702217, ECO:0000269|PubMed:11880368, ECO:0000269|PubMed:15086542, ECO:0000269|PubMed:15098239, ECO:0000269|PubMed:15459974, ECO:0000269|PubMed:16086317, ECO:0000269|PubMed:17617515, ECO:0000269|PubMed:19339160, ECO:0000269|PubMed:20034067, ECO:0000269|PubMed:24277820, ECO:0000269|PubMed:25615550, ECO:0000269|PubMed:30154241}. Note=The disease is caused by variants affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype.; DISEASE: Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. {ECO:0000269|PubMed:22209248}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.-
uniprot
proteins
ec_number
7.6.2.3
uniprot
proteins
function
FUNCTION: [Isoform 1]: ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Mediates ATP-dependent transport of glutathione conjugates such as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS) (in vitro), and an anionic cyclopentapeptide endothelin antagonist, BQ-123 (PubMed:11880368, PubMed:12414644). May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable). Does not appear to actively transport drugs outside the cell. Confers low levels of cellular resistance to etoposide, teniposide, anthracyclines and cisplatin (PubMed:12414644). {ECO:0000269|PubMed:11880368, ECO:0000269|PubMed:12414644, ECO:0000305|PubMed:35307651}.; FUNCTION: [Isoform 1]: Mediates the release of nucleoside triphosphates, predominantly ATP, into the circulation, where it is rapidly converted into AMP and the mineralization inhibitor inorganic pyrophosphate (PPi) by the ecto-enzyme ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1), therefore playing a role in PPi homeostasis. {ECO:0000269|PubMed:24277820, ECO:0000269|PubMed:24969777}.; FUNCTION: [Isoform 2]: Inhibits TNF-mediated apoptosis through blocking one or more caspases. {ECO:0000269|PubMed:23912081}.
uniprot
proteins
mass_dalton
164906
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:30154241}.
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCC family
uniprot
proteins
protein_family
Conjugate transporter (TC 3.A.1.208) subfamily
uniprot
proteins
pubmed
10424734
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
10811882
uniprot
proteins
pubmed
10835642
uniprot
proteins
pubmed
10913334
uniprot
proteins
pubmed
10954200
uniprot
proteins
pubmed
11058917
uniprot
proteins
pubmed
11427982
uniprot
proteins
pubmed
11431746
uniprot
proteins
pubmed
11536079
uniprot
proteins
pubmed
11702217
uniprot
proteins
pubmed
11776382
uniprot
proteins
pubmed
11880368
uniprot
proteins
pubmed
12414644
uniprot
proteins
pubmed
12901863
uniprot
proteins
pubmed
15086542
uniprot
proteins
pubmed
15098239
uniprot
proteins
pubmed
15459974
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16086317
uniprot
proteins
pubmed
17617515
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
19339160
uniprot
proteins
pubmed
20034067
uniprot
proteins
pubmed
21318057
uniprot
proteins
pubmed
22209248
uniprot
proteins
pubmed
23625951
uniprot
proteins
pubmed
23912081
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24277820
uniprot
proteins
pubmed
24969777
uniprot
proteins
pubmed
25615550
uniprot
proteins
pubmed
30154241
uniprot
proteins
pubmed
35307651
uniprot
proteins
pubmed
9892204
uniprot
proteins
sequence_length
1503
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Basal cell membrane {ECO:0000269|PubMed:35307651}; Multi-pass membrane protein {ECO:0000255}. Note=Localized to the basal membrane of Sertoli cells. {ECO:0000269|PubMed:35307651}.; SUBCELLULAR LOCATION: [Isoform 1]: Basolateral cell membrane {ECO:0000269|PubMed:12901863, ECO:0000269|PubMed:23625951}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23912081}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 32..52; /note="Helical; Name=1"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 73..93; /note="Helical; Name=2"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 99..119; /note="Helical; Name=3"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 132..149; /note="Helical; Name=4"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 168..188; /note="Helical; Name=5"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 303..323; /note="Helical; Name=6"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 350..370; /note="Helical; Name=7"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 427..447; /note="Helical; Name=8"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 451..471; /note="Helical; Name=9"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 534..554; /note="Helical; Name=10"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 576..596; /note="Helical; Name=11"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 940..960; /note="Helical; Name=12"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 998..1018; /note="Helical; Name=13"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1062..1082; /note="Helical; Name=14"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1084..1104; /note="Helical; Name=15"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1176..1196; /note="Helical; Name=16"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1199..1219; /note="Helical; Name=17"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441
uniprot
proteins