Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4363
Gene name	ATP binding cassette subfamily C member 1 (ABCC1 blood group)
Gene symbol	ABCC1
Synonyms (NCBI Gene)	ABC29ABCCDFNA77GS-XMRPMRP1
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, MD

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

202

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004494	hsa-miR-134-5p	qRT-PCRWestern blotNorthern blot	20371173
MIRT003199	hsa-miR-7-5p	Luciferase reporter assayWestern blot	20099276
MIRT003199	hsa-miR-7-5p	Luciferase reporter assayWestern blot	20099276
MIRT003198	hsa-miR-345-5p	Luciferase reporter assayWestern blot	20099276
MIRT003198	hsa-miR-345-5p	Luciferase reporter assayWestern blot	20099276
MIRT021440	hsa-miR-9-5p	Microarray	17612493
MIRT024051	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT003199	hsa-miR-7-5p	Microarray	19073608
MIRT027818	hsa-miR-98-5p	Microarray	19088304
MIRT032483	hsa-let-7b-5p	Proteomics	18668040
MIRT051224	hsa-miR-16-5p	CLASH	23622248
MIRT046316	hsa-miR-23b-3p	CLASH	23622248
MIRT046005	hsa-miR-125b-5p	CLASH	23622248
MIRT042744	hsa-miR-339-5p	CLASH	23622248
MIRT040354	hsa-miR-615-3p	CLASH	23622248
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT706013	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT706012	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT706011	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT706008	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT706009	hsa-miR-5582-3p	HITS-CLIP	23313552
MIRT706007	hsa-miR-1323	HITS-CLIP	23313552
MIRT706006	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT706005	hsa-miR-1825	HITS-CLIP	23313552
MIRT706004	hsa-miR-361-3p	HITS-CLIP	23313552
MIRT706003	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT706002	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT706001	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	Luciferase reporter assay	25354783
MIRT021440	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	28098912
MIRT021440	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	28098912
MIRT003199	hsa-miR-7-5p	ImmunohistochemistryLuciferase reporter assayqRT-PCR	26108539
MIRT734736	hsa-miR-139-5p	Luciferase reporter assayWestern blottingqRT-PCR	31750616
MIRT706013	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT706012	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT706011	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT706008	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT706009	hsa-miR-5582-3p	HITS-CLIP	23313552
MIRT706007	hsa-miR-1323	HITS-CLIP	23313552
MIRT706006	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT706005	hsa-miR-1825	HITS-CLIP	23313552
MIRT706004	hsa-miR-361-3p	HITS-CLIP	23313552
MIRT706003	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT706002	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT706001	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT755758	hsa-miR-1254	Western blottingqRT-PCR	37190912
MIRT758296	hsa-miR-145	CLIP-seq
MIRT758297	hsa-miR-149	CLIP-seq
MIRT758298	hsa-miR-2116	CLIP-seq
MIRT758299	hsa-miR-217	CLIP-seq
MIRT758300	hsa-miR-219-5p	CLIP-seq
MIRT758301	hsa-miR-224	CLIP-seq
MIRT758302	hsa-miR-3064-5p	CLIP-seq
MIRT758303	hsa-miR-409-3p	CLIP-seq
MIRT758304	hsa-miR-4273	CLIP-seq
MIRT758305	hsa-miR-4297	CLIP-seq
MIRT758306	hsa-miR-4310	CLIP-seq
MIRT758307	hsa-miR-4418	CLIP-seq
MIRT758308	hsa-miR-4445	CLIP-seq
MIRT758309	hsa-miR-4661-3p	CLIP-seq
MIRT758310	hsa-miR-4677-5p	CLIP-seq
MIRT758311	hsa-miR-4782-3p	CLIP-seq
MIRT758312	hsa-miR-4794	CLIP-seq
MIRT758313	hsa-miR-508-3p	CLIP-seq
MIRT758314	hsa-miR-509-3-5p	CLIP-seq
MIRT758315	hsa-miR-509-5p	CLIP-seq
MIRT758316	hsa-miR-600	CLIP-seq
MIRT758317	hsa-miR-604	CLIP-seq
MIRT758318	hsa-miR-647	CLIP-seq
MIRT758319	hsa-miR-653	CLIP-seq
MIRT758320	hsa-miR-1231	CLIP-seq
MIRT758321	hsa-miR-1265	CLIP-seq
MIRT758322	hsa-miR-1912	CLIP-seq
MIRT758323	hsa-miR-2052	CLIP-seq
MIRT758324	hsa-miR-3173-5p	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT758326	hsa-miR-323b-5p	CLIP-seq
MIRT758327	hsa-miR-326	CLIP-seq
MIRT758328	hsa-miR-330-5p	CLIP-seq
MIRT758329	hsa-miR-4256	CLIP-seq
MIRT758330	hsa-miR-4277	CLIP-seq
MIRT758331	hsa-miR-4288	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758333	hsa-miR-4307	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT758336	hsa-miR-4720-5p	CLIP-seq
MIRT758337	hsa-miR-4747-3p	CLIP-seq
MIRT758338	hsa-miR-4799-3p	CLIP-seq
MIRT758339	hsa-miR-629	CLIP-seq
MIRT758340	hsa-miR-632	CLIP-seq
MIRT758341	hsa-miR-659	CLIP-seq
MIRT758342	hsa-miR-877	CLIP-seq
MIRT1923652	hsa-miR-1292	CLIP-seq
MIRT1923653	hsa-miR-141	CLIP-seq
MIRT1923654	hsa-miR-200a	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT1923655	hsa-miR-345	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT1923656	hsa-miR-4471	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT1923657	hsa-miR-4640-5p	CLIP-seq
MIRT1923658	hsa-miR-4726-5p	CLIP-seq
MIRT1923659	hsa-miR-4755-3p	CLIP-seq
MIRT1923660	hsa-miR-541	CLIP-seq
MIRT1923661	hsa-miR-654-5p	CLIP-seq
MIRT758318	hsa-miR-647	CLIP-seq
MIRT2165168	hsa-miR-101	CLIP-seq
MIRT1923653	hsa-miR-141	CLIP-seq
MIRT1923654	hsa-miR-200a	CLIP-seq
MIRT2165169	hsa-miR-29a	CLIP-seq
MIRT2165170	hsa-miR-29b	CLIP-seq
MIRT2165171	hsa-miR-29c	CLIP-seq
MIRT2165172	hsa-miR-3605-3p	CLIP-seq
MIRT2165173	hsa-miR-3918	CLIP-seq
MIRT2165174	hsa-miR-4529-5p	CLIP-seq
MIRT2165175	hsa-miR-4645-5p	CLIP-seq
MIRT2165176	hsa-miR-4673	CLIP-seq
MIRT2165177	hsa-miR-4699-3p	CLIP-seq
MIRT2165178	hsa-miR-4705	CLIP-seq
MIRT2165179	hsa-miR-4707-5p	CLIP-seq
MIRT2165180	hsa-miR-4713-5p	CLIP-seq
MIRT2165181	hsa-miR-4733-3p	CLIP-seq
MIRT2165182	hsa-miR-4747-5p	CLIP-seq
MIRT1923660	hsa-miR-541	CLIP-seq
MIRT1923661	hsa-miR-654-5p	CLIP-seq
MIRT2165183	hsa-miR-889	CLIP-seq
MIRT2383744	hsa-miR-1207-5p	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2383746	hsa-miR-1909	CLIP-seq
MIRT2383747	hsa-miR-3144-5p	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT2383748	hsa-miR-3188	CLIP-seq
MIRT1923655	hsa-miR-345	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT2383749	hsa-miR-4514	CLIP-seq
MIRT2165175	hsa-miR-4645-5p	CLIP-seq
MIRT2165176	hsa-miR-4673	CLIP-seq
MIRT2383750	hsa-miR-4692	CLIP-seq
MIRT2383751	hsa-miR-4763-3p	CLIP-seq
MIRT2383752	hsa-miR-940	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467031	hsa-miR-1	CLIP-seq
MIRT2165168	hsa-miR-101	CLIP-seq
MIRT2467032	hsa-miR-1229	CLIP-seq
MIRT2467033	hsa-miR-1297	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2467034	hsa-miR-146a	CLIP-seq
MIRT2467035	hsa-miR-146b-5p	CLIP-seq
MIRT2467036	hsa-miR-206	CLIP-seq
MIRT2467037	hsa-miR-2467-3p	CLIP-seq
MIRT2467038	hsa-miR-26a	CLIP-seq
MIRT2467039	hsa-miR-26b	CLIP-seq
MIRT2467040	hsa-miR-3074-5p	CLIP-seq
MIRT2467041	hsa-miR-3136-3p	CLIP-seq
MIRT2467042	hsa-miR-3176	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2467043	hsa-miR-3672	CLIP-seq
MIRT2467044	hsa-miR-3678-3p	CLIP-seq
MIRT2467045	hsa-miR-3682-5p	CLIP-seq
MIRT2467046	hsa-miR-3922-3p	CLIP-seq
MIRT2467047	hsa-miR-3938	CLIP-seq
MIRT2467048	hsa-miR-4459	CLIP-seq
MIRT2467049	hsa-miR-4465	CLIP-seq
MIRT2467050	hsa-miR-4540	CLIP-seq
MIRT2467051	hsa-miR-4646-5p	CLIP-seq
MIRT2467052	hsa-miR-4649-5p	CLIP-seq
MIRT2467053	hsa-miR-4690-3p	CLIP-seq
MIRT2467054	hsa-miR-485-5p	CLIP-seq
MIRT2467055	hsa-miR-548ad	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467056	hsa-miR-607	CLIP-seq
MIRT2467057	hsa-miR-613	CLIP-seq
MIRT2467058	hsa-miR-665	CLIP-seq
MIRT2467031	hsa-miR-1	CLIP-seq
MIRT2467032	hsa-miR-1229	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2467036	hsa-miR-206	CLIP-seq
MIRT2467040	hsa-miR-3074-5p	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2467045	hsa-miR-3682-5p	CLIP-seq
MIRT2467048	hsa-miR-4459	CLIP-seq
MIRT2467050	hsa-miR-4540	CLIP-seq
MIRT2467051	hsa-miR-4646-5p	CLIP-seq
MIRT2467052	hsa-miR-4649-5p	CLIP-seq
MIRT2467053	hsa-miR-4690-3p	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467056	hsa-miR-607	CLIP-seq
MIRT2467057	hsa-miR-613	CLIP-seq
MIRT2467058	hsa-miR-665	CLIP-seq

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

Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17050692, 23137377, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1360704
GO:0006691	Process	Leukotriene metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IBA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009410	Process	Response to xenobiotic stimulus	ISS
GO:0009410	Process	Response to xenobiotic stimulus	TAS	1360704
GO:0009925	Component	Basal plasma membrane	IDA	18619525
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015420	Function	ABC-type vitamin B12 transporter activity	EXP	21511966, 22547309
GO:0015420	Function	ABC-type vitamin B12 transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	ISS
GO:0015562	Function	Efflux transmembrane transporter activity	IEA
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:0015889	Process	Cobalamin transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1360704
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	24130369, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
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:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0034040	Function	ATPase-coupled lipid transmembrane transporter activity	IMP	17050692
GO:0034599	Process	Cellular response to oxidative stress	TAS
GO:0034634	Function	Glutathione transmembrane transporter activity	IBA
GO:0034634	Function	Glutathione transmembrane transporter activity	IEA
GO:0034634	Function	Glutathione transmembrane transporter activity	ISS	26200696
GO:0034775	Process	Glutathione transmembrane transport	IBA
GO:0042167	Process	Heme catabolic process	TAS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042908	Process	Xenobiotic transport	IBA
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042908	Process	Xenobiotic transport	ISS
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	7961706, 9281595
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IMP	25986174
GO:0042910	Function	Xenobiotic transmembrane transporter activity	ISS	26200696
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0045332	Process	Phospholipid translocation	IMP	17050692
GO:0046624	Function	Sphingolipid transporter activity	TAS
GO:0046942	Process	Carboxylic acid transport	IEA
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IBA
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IMP	25986174
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0055085	Process	Transmembrane transport	IEA
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:0070729	Process	Cyclic nucleotide transport	IEA
GO:0070729	Process	Cyclic nucleotide transport	IMP	36070769
GO:0071716	Process	Leukotriene transport	IEA
GO:0071716	Process	Leukotriene transport	ISS
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0099039	Process	Sphingolipid translocation	IMP	17050692
GO:0140115	Process	Export across plasma membrane	IEA
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	EXP	7961706
GO:0140359	Function	ABC-type transporter activity	IDA	7961706, 9281595
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	TAS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1904646	Process	Cellular response to amyloid-beta	IEA
GO:1904646	Process	Cellular response to amyloid-beta	ISS	26200696
GO:1905039	Process	Carboxylic acid transmembrane transport	IMP	25986174
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IMP	25986174

MIM	HGNC	e!Ensembl
158343	51	ENSG00000103222

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:10064732, PubMed:11114332, PubMed:16230346, PubMed:7961706, PubMed:9281595). Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estra

PDB

2CBZ , 4C3Z , 8VT4 , 8VUX , 8VVC

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

Tissue specificity

TISSUE SPECIFICITY: Lung, testis and peripheral blood mononuclear cells.

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

Interactions

View interactions

	KEGG		Reactome
	Antifolate resistance ABC transporters Sphingolipid signaling pathway Vitamin digestion and absorption Folate transport and metabolism MicroRNAs in cancer		Heme degradation Cobalamin (Cbl, vitamin B12) transport and metabolism Synthesis of Leukotrienes (LT) and Eoxins (EX) ABC-family proteins mediated transport

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing loss, autosomal dominant 77	Pathogenic	rs199797323	RCV001194461

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ABCC1-related disorder	Likely benign; Benign	rs199675371, rs200039403, rs182118381, rs539166124, rs77428024, rs187769078, rs199815778, rs112282109, rs8057331, rs8187844, rs200760311, rs8187859	RCV003909484 RCV003912311 RCV003911640 RCV003913863 RCV003944084 RCV003961643 RCV003943837 RCV003932297 RCV003932199 RCV003971798 RCV003967002 RCV003935936
Acute myeloid leukemia	Benign	rs8187856	RCV005903729
Atorvastatin response	drug response	rs45511401	RCV002291809
Cervical cancer	Benign	rs8187856	RCV005903730
Clear cell carcinoma of kidney	Benign	rs8187856	RCV005903731
Colon adenocarcinoma	Benign	rs8187856	RCV005903728
Familial cancer of breast	Uncertain significance; association	rs35623, rs35625, rs11866794, rs4148350, rs4148351, rs35626, rs35628, rs4148353, rs4148356, rs11075295, rs3888565, rs3851711	RCV000123396 RCV000123397 RCV000123398 RCV000123399 RCV000123400 RCV000123401 RCV000123402 RCV000123403 RCV000123404 RCV000123405 RCV000123406 RCV000123407
Gastric cancer	Benign	rs8187856	RCV005903732
Lung cancer	Benign	rs8187856	RCV005903735
Ovarian serous cystadenocarcinoma	Benign	rs8187856	RCV005903733
Uterine carcinosarcoma	Benign	rs8187856	RCV005903734
Uterine corpus endometrial carcinoma	Benign	rs8187856	RCV005903736

Show/Hide Text Mining Associations (122)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Stimulate	33097055
Adenocarcinoma	Associate	16107775, 28081737, 30941955
Adenocarcinoma of Lung	Associate	31986409
Adenoma	Stimulate	10562814
Airway Remodeling	Associate	20487524
Alzheimer Disease	Associate	32878879
Anemia	Associate	25881102
Arthritis Rheumatoid	Associate	19248091
Arthropathy progressive pseudorheumatoid of childhood	Associate	21435954
Asthma	Associate	30655622, 34648729
Astrocytoma	Associate	14655754
Autoimmune Diseases	Associate	1717826
Biliary Tract Neoplasms	Associate	30018456
Bipolar Disorder	Associate	32627186
Brain Injuries Traumatic	Associate	23896815
Brain Injuries Traumatic	Stimulate	25891836
Brain Neoplasms	Associate	11223551, 26617887
Breast Neoplasms	Associate	10638986, 11355955, 15047700, 17047076, 19235593, 20110355, 23288347, 23396606, 23481629, 23658771, 25078270, 26362310, 27689338, 30486550, 30570851, 31071369, 38057687, 39596349 View all (3 more)
Carcinogenesis	Associate	10562814, 27709738
Carcinoma Hepatocellular	Stimulate	12428063
Carcinoma Hepatocellular	Associate	20458768, 21182225, 25310259, 27081035, 28414325, 29602203, 35203285, 35363194, 35592684, 37140311
Carcinoma Mucoepidermoid	Associate	24013781, 26829120
Carcinoma Non Small Cell Lung	Associate	17593626, 22510476, 26004871, 26261505, 26617887, 27706681, 27906433, 28762597, 33097055, 9652763
Carcinoma Ovarian Epithelial	Associate	24024181, 30521500, 37838788
Carcinoma Pancreatic Ductal	Associate	25199538
Carcinoma Renal Cell	Associate	19393132, 19552816
Carcinoma Small Cell	Associate	26108539
Cartilage hair hypoplasia	Associate	35129080
Chemical and Drug Induced Liver Injury	Associate	26644204
Cholangiocarcinoma	Associate	15884115, 23480753
Chordoma	Associate	21143841
Cognition Disorders	Associate	31448785
Colonic Neoplasms	Associate	17541169, 30941955
Colorectal Neoplasms	Associate	24225025, 24695690, 25885226, 28968471, 30279206, 30834416, 30941955, 31698983, 32789424, 37658050, 40362377
Cystic Fibrosis	Associate	16464259, 21435954, 28800122
Disease Resistance	Associate	9136943
Drug Related Side Effects and Adverse Reactions	Associate	11986786, 12466237, 18713069, 20339089, 25580427, 26644204, 27566582, 29141648
Drug Resistant Epilepsy	Associate	17593626, 20532504, 20922799, 9722297
Dysplastic Nevus Syndrome	Associate	17482840
Endometrial Neoplasms	Associate	39258697
Ependymoma	Associate	20406235
Epilepsy	Associate	11879359, 12558585
Febrile Neutropenia	Associate	23396606, 24641830
Fever	Stimulate	11369762
Focal Cortical Dysplasia	Associate	17482840
Gastrointestinal Diseases	Associate	23999597
Glioblastoma	Associate	10639573, 34895074, 35803910
Glioma	Associate	11223551, 14655754, 15460906, 22906272, 23637844, 32916774, 7640227
Hematologic Diseases	Associate	23396606
Hereditary leiomyomatosis and renal cell cancer	Associate	22871336
HIV Infections	Stimulate	15105153
Hodgkin Disease	Associate	20339089, 22871336
Hyperinsulinism	Associate	33502730
Hyperparathyroidism	Associate	28806349
Hypoxia	Associate	16949254
Hypoxia	Stimulate	26846577, 36012307
Hypoxia Brain	Stimulate	16949254
Idiopathic Noncirrhotic Portal Hypertension	Associate	26549939
Inflammation	Associate	19248091, 20487524, 21435954, 40379713
Leukemia	Associate	10817732, 16051742, 19414348, 22787275, 24454800, 37726279
Leukemia	Stimulate	22901208
Leukemia Lymphocytic Chronic B Cell	Associate	9074409, 9722297
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12406906, 21520403
Leukemia Myeloid	Associate	10648417
Leukemia Myeloid Acute	Associate	10419897, 10828037, 18225565, 18711657, 19240178, 19291917, 22664042, 29141648, 32333821, 32621177, 37726279, 9490695
Leukemia Prolymphocytic T Cell	Associate	11886380
Leukemia T Cell	Associate	8670053
Leukopenia	Associate	39596349
Lichen Planus	Stimulate	15654950
Lung Diseases	Associate	36563915
Lung Injury	Associate	26273426
Lung Neoplasms	Associate	19107762, 29072615, 7644478, 8621643, 9683290
Lymphatic Metastasis	Stimulate	12085207
Lymphatic Metastasis	Associate	25329677, 30941955, 35363194
Lymphoma	Associate	19414348
Lymphoma Large B Cell Diffuse	Associate	37199349
Malformations of Cortical Development	Associate	12558585
Medulloblastoma	Associate	29869738
Melanoma	Associate	20234362, 25300205, 28293855, 7495278
Mesothelioma Malignant	Associate	26004871
Multiple Myeloma	Associate	20532504
Myasthenia Gravis	Associate	25246735
Nasopharyngeal Carcinoma	Associate	36732567
Neoplasm Metastasis	Associate	15015610, 20234362, 26617887, 36982681
Neoplasm Residual	Stimulate	24145140
Neoplasms	Associate	10025956, 10747957, 10839992, 12235150, 12388549, 14561746, 14636345, 15022287, 15460906, 19107762, 19552816, 19823672, 19837765, 20406235, 21571281 View all (35 more)
Neoplasms	Stimulate	23542236, 28061436, 33879658
Neoplasms	Inhibit	30486550
Neuroblastoma	Associate	10376971, 11720446, 16547352, 18713069, 20072950, 25111243
Neurodegenerative Diseases	Associate	25218792
Neurofibrosarcoma	Associate	24040940
Neurologic Manifestations	Associate	26644204
Neurotoxicity Syndromes	Associate	22868256
Neutropenia	Associate	19349540, 23396606, 27845419
Non alcoholic Fatty Liver Disease	Associate	21878559
Ototoxicity	Associate	24595806
Ovarian Neoplasms	Associate	16821592, 25881102, 27342070, 37838788, 40158757
Pancreatic Neoplasms	Associate	17695494, 20922799, 23664167, 33782384, 37108495
Peripheral Nervous System Diseases	Associate	39201483
Plaque Amyloid	Inhibit	32878879
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	22901208, 32176452
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10792272, 15667534, 38039756
Propping Zerres syndrome	Associate	19240178
Prostatic Neoplasms	Associate	29726910
Psoriasis	Stimulate	15654950
Psychotic Disorders	Associate	31448785
Pulmonary Disease Chronic Obstructive	Associate	20487524, 30655622, 34648729
Pulmonary Disease Chronic Obstructive	Inhibit	26273426
Rectal Neoplasms	Associate	36414988
Sarcoma	Associate	22662203
Sarcoma Ewing	Associate	23799853
Small Cell Lung Carcinoma	Associate	18281520, 23667609, 26108539, 8980384, 9652763
Solitary Fibrous Tumors	Associate	35864381
Stomach Neoplasms	Associate	12085207, 15298732, 16340247, 23564482, 25111243, 25329677, 25550836, 29491212, 29578180, 31852133, 32019330, 37303491, 39781520
Thyroid cancer medullary	Associate	16831027
Triple Negative Breast Neoplasms	Associate	31216782
Tuberculosis Multidrug Resistant	Associate	10395948, 10468850, 10562814, 10747957, 10817511, 11862483, 12174371, 12673730, 14655754, 15526378, 15667534, 16672223, 19235593, 19584229, 20072950 View all (26 more)
Tuberculosis Multidrug Resistant	Stimulate	19414348, 25605145, 40158757
Tuberculosis Multidrug Resistant	Inhibit	26799285
Urinary Bladder Neoplasms	Associate	23495258, 34418989
Urinary Bladder Neoplasms	Stimulate	39595959
Wilms Tumor	Associate	28061436

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