ABCC1 (ATP binding cassette subfamily C member 1)

Gene

• Entrez ID: 4363
• Gene name: ATP binding cassette subfamily C member 1
• Gene symbol: ABCC1
• Synonyms: ABC29, ABCC, DFNA77, GS-X, MRP, MRP1
• Chromosome: 16
• Chromosome location: 16p13.11
• 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs60782127	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003198	hsa-miR-345-5p	Luciferase reporter assay, Western blot	20099276
MIRT003199	hsa-miR-7-5p	Luciferase reporter assay, Western blot	20099276
MIRT003199	hsa-miR-7-5p	Microarray	19073608
MIRT003199	hsa-miR-7-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	26108539
MIRT004494	hsa-miR-134-5p	qRT-PCR, Western blot, Northern blot	20371173
MIRT021440	hsa-miR-9-5p	Microarray	17612493
MIRT021440	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	28098912
MIRT024051	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT027818	hsa-miR-98-5p	Microarray	19088304
MIRT032483	hsa-let-7b-5p	Proteomics	18668040
MIRT040354	hsa-miR-615-3p	CLASH	23622248
MIRT042744	hsa-miR-339-5p	CLASH	23622248
MIRT046005	hsa-miR-125b-5p	CLASH	23622248
MIRT046316	hsa-miR-23b-3p	CLASH	23622248
MIRT051224	hsa-miR-16-5p	CLASH	23622248
MIRT053213	hsa-miR-1291	Luciferase reporter assay, Western blot	23686318
MIRT706001	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT706002	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT706003	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT706004	hsa-miR-361-3p	HITS-CLIP	23313552
MIRT706005	hsa-miR-1825	HITS-CLIP	23313552
MIRT706006	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT706007	hsa-miR-1323	HITS-CLIP	23313552
MIRT706008	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT706009	hsa-miR-5582-3p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	Luciferase reporter assay	25354783
MIRT706011	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT706012	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT706013	hsa-miR-224-5p	HITS-CLIP	23313552

Transcription factors

Transcription factor	Regulation	Reference
MYCN	Activation	10348353;14737110;7923112
MYCN	Unknown	9516823
SP1	Repression	23765166

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IDA	17050692, 23137377, 28112518
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	1360704
GO:0006691	Process	Leukotriene metabolic process	TAS
GO:0008559	Function	ABC-type xenobiotic transporter activity	IBA	21873635
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0009925	Component	Basal plasma membrane	IDA	18619525
GO:0015420	Function	ABC-type vitamin B12 transporter activity	TAS
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	ISS
GO:0015562	Function	Efflux transmembrane transporter activity	IMP	25986174
GO:0015562	Function	Efflux transmembrane transporter activity	ISS	26200696
GO:0015889	Process	Cobalamin transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IDA	24130369, 31791063
GO:0016323	Component	Basolateral plasma membrane	ISS	18619525
GO:0016324	Component	Apical plasma membrane	IDA	31791063
GO:0016328	Component	Lateral plasma membrane	IDA	31791063
GO:0016887	Function	ATPase activity	IDA	15999530
GO:0034040	Function	ATPase-coupled lipid transmembrane transporter activity	IMP	17050692
GO:0034634	Function	Glutathione transmembrane transporter activity	IBA	21873635
GO:0034634	Function	Glutathione transmembrane transporter activity	ISS	26200696
GO:0034775	Process	Glutathione transmembrane transport	IBA	21873635
GO:0042493	Process	Response to drug	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042908	Process	Xenobiotic transport	IBA	21873635
GO:0042908	Process	Xenobiotic transport	ISS
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	7961706, 9281595
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IMP	25986174
GO:0042910	Function	Xenobiotic transmembrane transporter activity	ISS	26200696
GO:0045332	Process	Phospholipid translocation	IMP	17050692
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IMP	25986174
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0060326	Process	Cell chemotaxis	ISS	17050692
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070633	Process	Transepithelial transport	IMP	25986174
GO:0071716	Process	Leukotriene transport	ISS
GO:0099039	Process	Sphingolipid translocation	IMP	17050692
GO:0140115	Process	Export across plasma membrane	IMP	25986174
GO:0140115	Process	Export across plasma membrane	ISS	26200696
GO:0140359	Function	ABC-type transporter activity	IDA	7961706, 9281595
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1904646	Process	Cellular response to amyloid-beta	ISS	26200696
GO:1905039	Process	Carboxylic acid transmembrane transport	IMP	25986174

Other IDs

• MIM: 158343
• HGNC: 51
• e!Ensembl: ENSG00000103222

Protein

• UniProt ID: P33527
• Protein name: Multidrug resistance-associated protein 1 (EC 7.6.2.2) (ATP-binding cassette sub-family C member 1) (Glutathione-S-conjugate-translocating ATPase ABCC1) (EC 7.6.2.3) (Leukotriene C(4) transporter) (LTC4 transporter)
• Protein function: Mediates export of organic anions and drugs from the cytoplasm (PubMed:7961706, PubMed:16230346, PubMed:9281595, PubMed:10064732, PubMed:11114332). Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics (PubMed:7961706, PubMed:16230346, PubMed:9281595, PubMed:10064732, PubMed:11114332). 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-synthezing cells (By similarity).
• PDB: 2CBZ, 4C3Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	325 → 596	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	661 → 796	ABC transporter	Domain
  PF00664	ABC_membrane	975 → 1244	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1310 → 1458	ABC transporter	Domain

• Sequence:

  MALRGFCSADGSDPLWDWNVTWNTSNPDFTKCFQNTVLVWVPCFYLWACFPFYFLYLSRH
  DRGYIQMTPLNKTKTALGFLLWIVCWADLFYSFWERSRGIFLAPVFLVSPTLLGITMLLA
  TFLIQLERRKGVQSSGIMLTFWLVALVCALAILRSKIMTALKEDAQVDLFRDITFYVYFS
  LLLIQLVLSCFSDRSPLFSETIHDPNPCPESSASFLSRITFWWITGLIVRGYRQPLEGSD
  LWSLNKEDTSEQVVPVLVKNWKKECAKTRKQPVKVVYSSKDPAQPKESSKVDANEEVEAL
  IVKSPQKEWNPSLFKVLYKTFGPYFLMSFFFKAIHDLMMFSGPQILKLLIKFVNDTKAPD
  WQGYFYTVLLFVTACLQTLVLHQYFHICFVSGMRIKTAVIGAVYRKALVITNSARKSSTV
  GEIVNLMSVDAQRFMDLATYINMIWSAPLQVILALYLLWLNLGPSVLAGVAVMVLMVPVN
  AVMAMKTKTYQVAHMKSKDNRIKLMNEILNGIKVLKLYAWELAFKDKVLAIRQEELKVLK
  KSAYLSAVGTFTWVCTPFLVALCTFAVYVTIDENNILDAQTAFVSLALFNILRFPLNILP
  MVISSIVQASVSLKRLRIFLSHEELEPDSIERRPVKDGGGTNSITVRNATFTWARSDPPT
  LNGITFSIPEGALVAVVGQVGCGKSSLLSALLAEMDKVEGHVAIKGSVAYVPQQAWIQND
  SLRENILFGCQLEEPYYRSVIQACALLPDLEILPSGDRTEIGEKGVNLSGGQKQRVSLAR
  AVYSNADIYLFDDPLSAVDAHVGKHIFENVIGPKGMLKNKTRILVTHSMSYLPQVDVIIV
  MSGGKISEMGSYQELLARDGAFAEFLRTYASTEQEQDAEENGVTGVSGPGKEAKQMENGM
  LVTDSAGKQLQRQLSSSSSYSGDISRHHNSTAELQKAEAKKEETWKLMEADKAQTGQVKL
  SVYWDYMKAIGLFISFLSIFLFMCNHVSALASNYWLSLWTDDPIVNGTQEHTKVRLSVYG
  ALGISQGIAVFGYSMAVSIGGILASRCLHVDLLHSILRSPMSFFERTPSGNLVNRFSKEL
  DTVDSMIPEVIKMFMGSLFNVIGACIVILLATPIAAIIIPPLGLIYFFVQRFYVASSRQL
  KRLESVSRSPVYSHFNETLLGVSVIRAFEEQERFIHQSDLKVDENQKAYYPSIVANRWLA
  VRLECVGNCIVLFAALFAVISRHSLSAGLVGLSVSYSLQVTTYLNWLVRMSSEMETNIVA
  VERLKEYSETEKEAPWQIQETAPPSSWPQVGRVEFRNYCLRYREDLDFVLRHINVTINGG
  EKVGIVGRTGAGKSSLTLGLFRINESAEGEIIIDGINIAKIGLHDLRFKITIIPQDPVLF
  SGSLRMNLDPFSQYSDEEVWTSLELAHLKDFVSALPDKLDHECAEGGENLSVGQRQLVCL
  ARALLRKTKILVLDEATAAVDLETDDLIQSTIRTQFEDCTVLTIAHRLNTIMDYTRVIVL
  DKGEIQEYGAPSDLLQQRGLFYSMAKDAGLV

• Sequence length: 1531