• Gene id: 5243

Gene Summary

• Gene Symbol: ABCB1   Gene   UCSC   Ensembl
• Aliases: ABC20, CD243, CLCS, GP170, MDR1, P-GP, PGY1
• Gene name: ATP binding cassette subfamily B member 1
• Alternate names: multidrug resistance protein 1, ATP-binding cassette, sub-family B (MDR/TAP), member 1, P glycoprotein, P-glycoprotein 1, colchicin sensitivity, doxorubicin resistance,
• Gene location: 7q21.12 (87713322: 87503862)     Exons: 32     NC_000007.14
• Gene summary(Entrez): The membrane-associated 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
• OMIM: 171050

SNPs

rs1045642

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.87509329A>G
NC_000007.14   g.87509329A>T
NC_000007.13   g.87138645A>G
NC_000007.13   g.87138645A>T
NG_011513.1   g.208920T>C
NG_011513.1   g.208920T>A
NM_000927.4   c.3435T>C
NM_000927.4   c.3435T>A
NM_001348945.1   c.3645T>C
NM_001348945.1   c.3645T>A
  

Protein Summary

• Protein general information: P08183  
  • Name: Multidrug resistance protein 1 (EC 3.6.3.44) (ATP binding cassette sub family B member 1) (P glycoprotein 1) (CD antigen CD243)
  • Length: 1280  
  • Mass: 141,479
• Sequence:

  MDLEGDRNGGAKKKNFFKLNNKSEKDKKEKKPTVSVFSMFRYSNWLDKLYMVVGTLAAIIHGAGLPLMMLVFGEM
  TDIFANAGNLEDLMSNITNRSDINDTGFFMNLEEDMTRYAYYYSGIGAGVLVAAYIQVSFWCLAAGRQIHKIRKQ
  FFHAIMRQEIGWFDVHDVGELNTRLTDDVSKINEGIGDKIGMFFQSMATFFTGFIVGFTRGWKLTLVILAISPVL
  GLSAAVWAKILSSFTDKELLAYAKAGAVAEEVLAAIRTVIAFGGQKKELERYNKNLEEAKRIGIKKAITANISIG
  AAFLLIYASYALAFWYGTTLVLSGEYSIGQVLTVFFSVLIGAFSVGQASPSIEAFANARGAAYEIFKIIDNKPSI
  DSYSKSGHKPDNIKGNLEFRNVHFSYPSRKEVKILKGLNLKVQSGQTVALVGNSGCGKSTTVQLMQRLYDPTEGM
  VSVDGQDIRTINVRFLREIIGVVSQEPVLFATTIAENIRYGRENVTMDEIEKAVKEANAYDFIMKLPHKFDTLVG
  ERGAQLSGGQKQRIAIARALVRNPKILLLDEATSALDTESEAVVQVALDKARKGRTTIVIAHRLSTVRNADVIAG
  FDDGVIVEKGNHDELMKEKGIYFKLVTMQTAGNEVELENAADESKSEIDALEMSSNDSRSSLIRKRSTRRSVRGS
  QAQDRKLSTKEALDESIPPVSFWRIMKLNLTEWPYFVVGVFCAIINGGLQPAFAIIFSKIIGVFTRIDDPETKRQ
  NSNLFSLLFLALGIISFITFFLQGFTFGKAGEILTKRLRYMVFRSMLRQDVSWFDDPKNTTGALTTRLANDAAQV
  KGAIGSRLAVITQNIANLGTGIIISFIYGWQLTLLLLAIVPIIAIAGVVEMKMLSGQALKDKKELEGSGKIATEA
  IENFRTVVSLTQEQKFEHMYAQSLQVPYRNSLRKAHIFGITFSFTQAMMYFSYAGCFRFGAYLVAHKLMSFEDVL
  LVFSAVVFGAMAVGQVSSFAPDYAKAKISAAHIIMIIEKTPLIDSYSTEGLMPNTLEGNVTFGEVVFNYPTRPDI
  PVLQGLSLEVKKGQTLALVGSSGCGKSTVVQLLERFYDPLAGKVLLDGKEIKRLNVQWLRAHLGIVSQEPILFDC
  SIAENIAYGDNSRVVSQEEIVRAAKEANIHAFIESLPNKYSTKVGDKGTQLSGGQKQRIAIARALVRQPHILLLD
  EATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEHGTHQQLLAQKGIYFSMVSVQA
  GTKRQ

• Structural information:
  • Protein Domains: ABC (51-357)
    ABC (392-628)
    ABC (711-1000)
    (1035-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR030258  IPR027417  
  • Prosite: PS50929 PS00211 PS50893
  • PDB: 6C0V
  • PDBsum: 6C0V
  • STRING: ENSP00000265724
• Other Databases: GeneCards:  ABCB1  Malacards:  ABCB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000086	G2/M transition of mitotic cell cycle	IDA	biological process
GO:0002481	antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent	IBA	biological process
GO:0002485	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent	IBA	biological process
GO:0002489	antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	IBA	biological process
GO:0002591	positive regulation of antigen processing and presentation of peptide antigen via MHC class I	IBA	biological process
GO:0005215	transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	TAS	biological process
GO:0006855	drug transmembrane transport	IEA	biological process
GO:0008559	xenobiotic-transporting ATPase activity	TAS	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042493	response to drug	TAS	biological process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	molecular function
GO:0042908	xenobiotic transport	IEA	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072089	stem cell proliferation	IMP	biological process
GO:0000086	G2/M transition of mitotic cell cycle	IDA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0002481	antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent	IBA	biological process
GO:0002485	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent	IBA	biological process
GO:0002489	antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	IBA	biological process
GO:0002591	positive regulation of antigen processing and presentation of peptide antigen via MHC class I	IBA	biological process
GO:0005215	transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0006855	drug transmembrane transport	IEA	biological process
GO:0008559	xenobiotic-transporting ATPase activity	IEA	molecular function
GO:0008559	xenobiotic-transporting ATPase activity	TAS	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0042493	response to drug	TAS	biological process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	IEA	molecular function
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	molecular function
GO:0042908	xenobiotic transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072089	stem cell proliferation	IMP	biological process
GO:0000086	G2/M transition of mitotic cell cycle	IDA	biological process
GO:0002481	antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent	IBA	biological process
GO:0002485	antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent	IBA	biological process
GO:0002489	antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	IBA	biological process
GO:0002591	positive regulation of antigen processing and presentation of peptide antigen via MHC class I	IBA	biological process
GO:0005215	transporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	TAS	biological process
GO:0008559	xenobiotic-transporting ATPase activity	TAS	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0042493	response to drug	TAS	biological process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	molecular function
GO:0055085	transmembrane transport	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072089	stem cell proliferation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04976	Bile secretion
hsa05206	MicroRNAs in cancer
hsa05226	Gastric cancer

Diseases

Associated diseases	References
Cancer	GAD: 12960109
Cancer (Adenocarcinoma)	GAD: 18414651
Cancer (bladder)	GAD: 19692168
Cancer (brain)	GAD: 15947495
Cancer (breast)	GAD: 12684679
Cancer (colorectal)	GAD: 15912392
Cancer (endometrial)	GAD: 17300681
Cancer (esophageal)	GAD: 20453000
Cancer (gastric)	GAD: 19956892
Cancer (genitourinary)	GAD: 17701008
Cancer (head and neck)	GAD: 19504558
Cancer (leukemia)	GAD: 12969965
Cancer (liver)	GAD: 17443726
Cancer (lung)	GAD: 15277258
Cancer (lymphoma)	GAD: 19228751
Cancer (myeloma)	GAD: 18408561
Cancer (nasopharyngeal)	GAD: 20512145
Cancer (ovarian)	GAD: 20944127
Cancer (plasma cell myeloma)	GAD: 19373654
Cancer (prostate)	GAD: 18628469
Cancer (Renal cell)	GAD: 20389299
Cancer (Renal cell)	GAD: 12089380
Cancer (solid tumors)	GAD: 19924384
Cancer (Squamous cell)	GAD: 19523815
Cancer (stomach)	GAD: 17608636
Cancer (urologic)	GAD: 18930278
Apoplexy	GAD: 20826260
Hypotension	GAD: 12082591
Hypotension	GAD: 12082591
Cardiovascular disease	GAD: 12116890
Hypertension	GAD: 15952872
Thrombosis	GAD: 15570194
Cystic fibrosis	GAD: 18511651
Cleft defects	GAD: 20634891
Gastrointestinal stromal tumor	GAD: 18981009
Graves disease	GAD: 17891478
Neutropenia	GAD: 19074750
Lymphoproliferative disorders	GAD: 15665957
Addison's disease	GAD: 19282465
Arthritis	GAD: 18381794
Asthma	GAD: 19575027
Ulcerative colitis	GAD: 14755848
Inflammatory bowel disease	GAD: 14610718
Rheumatoid arthritis	GAD: 15487808
Chronic ulcerative colitis	GAD: 17665184
Crohn's disease	GAD: 18804983
Hyperlipidemia	GAD: 20031551
Hypercholesterolemia	GAD: 16002074
Obesity	GAD: 18442890
Diabetes	GAD: 19010156
Dyslipidemias	GAD: 17700364
Bone diseases	GAD: 18214345
Osteonecrosis	GAD: 18285546
Seizures	GAD: 16004559
Encephalomyelitis	GAD: 19605531
Myasthenia gravis	GAD: 18717915
Alzheimer's disease	GAD: 15288699
Parkinson disease	GAD: 15767512
Epilepsy	GAD: 15588114
Cirrhosis	GAD: 15690482
Autism	GAD: 19997080
Mood disorders	GAD: 17142980
Major depressive disorder	GAD: 12082591
Manic depression	GAD: 14583799
Schizophrenia	GAD: 17142980
Psychological disorders	GAD: 19086053
Schizophrenia	GAD: 18543120
Dementia	GAD: 16999857
Depression	GAD: 18550244
Chronic renal failure	GAD: 21085059
Kidney diseases	GAD: 20526235
Kidney diseases	GAD: 14583679
Male factor infertility	MIK: 26125837
Male factor infertility	MIK: 24865344
Male factor infertility	MIK: 19815951
Spermatogenesis defects	MIK: 24865344
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Gingival overgrowth	GAD: 15312098
Femur head necrosis	GAD: 18696186
Maculopathy	GAD: 12593536
Avascular necrosis of femoral head	KEGG: H01529
Glucocorticoid-induced osteonecrosis	KEGG: H01709
Renal insufficiency	GAD: 18408564
Nephrotic syndrome	GAD: 17043887
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 11466205
Male infertility	MIK: 19815951
Spermatogenic defects	MIK: 24865344

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24865344	Male infertility, Spermatogenic defects			308 (77 fertile normozoospermia )	Male infertility
26125837	Male factor infertility	MDR1 C3435T, C1236T	Turkish	294 (192 infertile, 102 fertile men)	Male infertility
19815951	Male infertility	MDR1 gene 3435C>T polymorphism		353 (162 infertile males, 191 healthy males with proven fertility)	Male infertility, Female infertility
11466205	Male infertility			50 (20 CAVD, 30 non- CAVD)	Male infertility	CFTR MDR1 and MRP
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq