Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4363
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCC1
Synonyms (NCBI Gene) Gene synonyms aliases
ABC29, ABCC, DFNA77, GS-X, MRP, MRP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNA77
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs60782127 G>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004494 hsa-miR-134-5p qRT-PCR, Western blot, Northern blot 20371173
MIRT003199 hsa-miR-7-5p Luciferase reporter assay, Western blot 20099276
MIRT003199 hsa-miR-7-5p Luciferase reporter assay, Western blot 20099276
MIRT003198 hsa-miR-345-5p Luciferase reporter assay, Western blot 20099276
MIRT003198 hsa-miR-345-5p Luciferase reporter assay, Western blot 20099276
Transcription factors
Transcription factor Regulation Reference
MYCN Activation 10348353;14737110;7923112
MYCN Unknown 9516823
SP1 Repression 23765166
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
158343 51 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: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
KSAYLSAVGTFTWVCTPFLVALCTFAVYVTIDENNILDAQTAFVSLALFNILRFPL
NILP
MVISSIVQASVSLKRLRIFLSHEELEPDSIERRPVKDGGGTNSITVRNATFTWARSDPPT
LNGITFSIPEGALVAVVGQVGCGKSSLLSALLAEMDKVEGHVAIKGSVAYVPQQAWIQND
SLRENILFGCQLEEPYYRSVIQACALLPDLEILPSGDRTEIGEKGVNLSGGQKQRVSLAR
AVYSNADIYLFDDPLS
AVDAHVGKHIFENVIGPKGMLKNKTRILVTHSMSYLPQVDVIIV
MSGGKISEMGSYQELLARDGAFAEFLRTYASTEQEQDAEENGVTGVSGPGKEAKQMENGM
LVTDSAGKQLQRQLSSSSSYSGDISRHHNSTAELQKAEAKKEETWKLMEADKAQTGQVKL
SVYWDYMKAIGLFISFLSIFLFMCNHVSALASNYWLSLWTDDPIVNGTQEHTKVRLSVYG
ALGISQGIAVFGYSMAVSIGGILASRCLHVDLLHSILRSPMSFFERTPSGNLVNRFSKEL
DTVDSMIPEVIKMFMGSLFNVIGACIVILLATPIAAIIIPPLGLIYFFVQRFYVASSRQL
KRLESVSRSPVYSHFNETLLGVSVIRAFEEQERFIHQSDLKVDENQKAYYPSIVANRWLA
VRLECVGNCIVLFAALFAVISRHSLSAGLVGLSVSYSLQVTTYL
NWLVRMSSEMETNIVA
VERLKEYSETEKEAPWQIQETAPPSSWPQVGRVEFRNYCLRYREDLDFVLRHINVTINGG
EKVGIVGRTGAGKSSLTLGLFRINESAEGEIIIDGINIAKIGLHDLRFKITIIPQDPVLF
SGSLRMNLDPFSQYSDEEVWTSLELAHLKDFVSALPDKLDHECAEGGENLSVGQRQLVCL
ARALLRKTKILVLDEATA
AVDLETDDLIQSTIRTQFEDCTVLTIAHRLNTIMDYTRVIVL
DKGEIQEYGAPSDLLQQRGLFYSMAKDAGLV
Sequence length 1531
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Deafness hearing loss, autosomal dominant 77, autosomal dominant nonsyndromic hearing loss GenCC
Diabetes Diabetes GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
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