Gene: ABCB1

Basic information

Tag Content
Uniprot ID P08183; A8K294; B5AK60; Q12755; Q14812;
Entrez ID 5243
Genbank protein ID AAA88047.1; AAA59575.1; BAF82848.1; AAB69423.1; CAA41558.1; AAA59576.1; AAM49149.1; AAA88048.1; AAW82430.1; ACF94688.1;
Genbank nucleotide ID NM_000927.4
Ensembl protein ID ENSP00000444095; ENSP00000478255; ENSP00000265724;
Ensembl nucleotide ID ENSG00000085563
Gene name ATP-dependent translocase ABCB1
Gene symbol ABCB1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 19760622; 23443032;
Functional description Translocates drugs and phospholipids across the membrane (PubMed:8898203, PubMed:2897240, PubMed:9038218). Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins (PubMed:8898203). Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:2897240, PubMed:9038218).
Sequence
MDLEGDRNGG AKKKNFFKLN NKSEKDKKEK KPTVSVFSMF RYSNWLDKLY MVVGTLAAII 60
HGAGLPLMML VFGEMTDIFA NAGNLEDLMS NITNRSDIND TGFFMNLEED MTRYAYYYSG 120
IGAGVLVAAY IQVSFWCLAA GRQIHKIRKQ FFHAIMRQEI GWFDVHDVGE LNTRLTDDVS 180
KINEGIGDKI GMFFQSMATF FTGFIVGFTR GWKLTLVILA ISPVLGLSAA VWAKILSSFT 240
DKELLAYAKA GAVAEEVLAA IRTVIAFGGQ KKELERYNKN LEEAKRIGIK KAITANISIG 300
AAFLLIYASY ALAFWYGTTL VLSGEYSIGQ VLTVFFSVLI GAFSVGQASP SIEAFANARG 360
AAYEIFKIID NKPSIDSYSK SGHKPDNIKG NLEFRNVHFS YPSRKEVKIL KGLNLKVQSG 420
QTVALVGNSG CGKSTTVQLM QRLYDPTEGM VSVDGQDIRT INVRFLREII GVVSQEPVLF 480
ATTIAENIRY GRENVTMDEI EKAVKEANAY DFIMKLPHKF DTLVGERGAQ LSGGQKQRIA 540
IARALVRNPK ILLLDEATSA LDTESEAVVQ VALDKARKGR TTIVIAHRLS TVRNADVIAG 600
FDDGVIVEKG NHDELMKEKG IYFKLVTMQT AGNEVELENA ADESKSEIDA LEMSSNDSRS 660
SLIRKRSTRR SVRGSQAQDR KLSTKEALDE SIPPVSFWRI MKLNLTEWPY FVVGVFCAII 720
NGGLQPAFAI IFSKIIGVFT RIDDPETKRQ NSNLFSLLFL ALGIISFITF FLQGFTFGKA 780
GEILTKRLRY MVFRSMLRQD VSWFDDPKNT TGALTTRLAN DAAQVKGAIG SRLAVITQNI 840
ANLGTGIIIS FIYGWQLTLL LLAIVPIIAI AGVVEMKMLS GQALKDKKEL EGSGKIATEA 900
IENFRTVVSL TQEQKFEHMY AQSLQVPYRN SLRKAHIFGI TFSFTQAMMY FSYAGCFRFG 960
AYLVAHKLMS FEDVLLVFSA VVFGAMAVGQ VSSFAPDYAK AKISAAHIIM IIEKTPLIDS 1020
YSTEGLMPNT LEGNVTFGEV VFNYPTRPDI PVLQGLSLEV KKGQTLALVG SSGCGKSTVV 1080
QLLERFYDPL AGKVLLDGKE IKRLNVQWLR AHLGIVSQEP ILFDCSIAEN IAYGDNSRVV 1140
SQEEIVRAAK EANIHAFIES LPNKYSTKVG DKGTQLSGGQ KQRIAIARAL VRQPHILLLD 1200
EATSALDTES EKVVQEALDK AREGRTCIVI AHRLSTIQNA DLIVVFQNGR VKEHGTHQQL 1260
LAQKGIYFSM VSVQAGTKRQ

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologABCB1403879Q4PLA8Canis lupus familiarisPredictionMore>>
1:1 orthologABCB15243P08183Homo sapiensPublicationMore>>
1:1 orthologAbcb1a18671P21447Mus musculusPredictionMore>>
1:1 orthologABCB1A0A2I3RUL7Pan troglodytesPredictionMore>>
1:1 orthologABCB1100008914G1T8H8Oryctolagus cuniculusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
ABCB1rs1128503PCR; TaqMan genotyping23443032
ABCB1rs1045642RFLP19760622

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005215 transporter activityTAS
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIDA
GO:0008559 ATPase-coupled xenobiotic transmembrane transporter activityIEA
GO:0015562 efflux transmembrane transporter activityIMP
GO:0015562 efflux transmembrane transporter activityIDA
GO:0016887 ATPase activityIDA
GO:0031625 ubiquitin protein ligase bindingIPI
GO:0042626 ATPase-coupled transmembrane transporter activityIBA
GO:0042910 xenobiotic transmembrane transporter activityIMP
GO:0042910 xenobiotic transmembrane transporter activityIDA
GO:0090554 phosphatidylcholine floppase activityIBA
GO:0090554 phosphatidylcholine floppase activityIDA
GO:0090555 phosphatidylethanolamine flippase activityIBA
GO:0090555 phosphatidylethanolamine flippase activityIDA
GO:0099038 ceramide floppase activityIBA
GO:0099038 ceramide floppase activityIDA
GO:0140328 floppase activityIMP

GO:Biological Process

GO ID GO Term Evidence
GO:0000086 G2/M transition of mitotic cell cycleIDA
GO:0042493 response to drugTAS
GO:0045332 phospholipid translocationIBA
GO:0045332 phospholipid translocationIDA
GO:0047484 regulation of response to osmotic stressIMP
GO:0055085 transmembrane transportTAS
GO:0070633 transepithelial transportIMP
GO:0070633 transepithelial transportIDA
GO:0072089 stem cell proliferationIMP
GO:0099040 ceramide translocationIBA
GO:0099040 ceramide translocationIDA
GO:0140115 export across plasma membraneIMP
GO:0140115 export across plasma membraneIDA
GO:1901529 positive regulation of anion channel activityIMP
GO:1990962 xenobiotic transport across blood-brain barrierISS
GO:1990962 xenobiotic transport across blood-brain barrierIC
GO:2001225 regulation of chloride transportIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneIBA
GO:0005886 plasma membraneTAS
GO:0009986 cell surfaceIDA
GO:0016020 membraneIDA
GO:0016021 integral component of membraneIEA
GO:0016324 apical plasma membraneIDA
GO:0070062 extracellular exosomeHDA
GO:0098591 external side of apical plasma membraneISS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismIEA
R-HSA-2161517 Abacavir transmembrane transportIEA
R-HSA-2161522 Abacavir transport and metabolismIEA
R-HSA-382551 Transport of small moleculesTAS
R-HSA-382556 ABC-family proteins mediated transportTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-0325 Glycoprotein
KW-0472 Membrane
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0677 Repeat
KW-1278 Translocase
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0813 Transport

Interpro

InterPro ID InterPro Term
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR030258 MDR1
IPR027417 P-loop_NTPase
IPR039421 Type_I_exporter

PROSITE

PROSITE ID PROSITE Term
PS50929 ABC_TM1F
PS00211 ABC_TRANSPORTER_1
PS50893 ABC_TRANSPORTER_2

Pfam

Pfam ID Pfam Term
PF00664 ABC_membrane
PF00005 ABC_tran

Protein-protein interaction

Protein-miRNA interaction