UniProtKB - O43520 (AT8B1_HUMAN)
Protein
Phospholipid-transporting ATPase IC
Gene
ATP8B1
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:25315773, PubMed:17948906). May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity). Thus may have a role in the regulation of bile acids transport into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both and protect hepatocytes from bile salts (By similarity). Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity (PubMed:20512993). Participates in correct apical membrane localization of CDC42, CFTR and SLC10A2 (PubMed:25239307, PubMed:27301931). Enables CDC42 clustering at the apical membrane during enterocyte polarization through the interaction between CDC42 polybasic region and negatively charged membrane lipids provided by ATP8B1 (By similarity). Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine (PubMed:20510206). Required for the preservation of cochlear hair cells in the inner ear (By similarity). May act as cardiolipin transporter during inflammatory injury (By similarity).By similarity5 Publications
Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + H+ + phosphate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + H+ + phosphate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).2 Publications EC:7.6.2.1
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 454 | 4-aspartylphosphate intermediateBy similarity | 1 | |
Metal bindingi | 893 | MagnesiumBy similarity | 1 | |
Metal bindingi | 897 | MagnesiumBy similarity | 1 |
GO - Molecular functioni
- ATPase-coupled intramembrane lipid transporter activity Source: GO_Central
- ATP binding Source: UniProtKB-KW
- cardiolipin binding Source: Ensembl
- magnesium ion binding Source: InterPro
- phosphatidylcholine flippase activity Source: UniProtKB
- phosphatidylserine flippase activity Source: UniProtKB
GO - Biological processi
- apical protein localization Source: UniProtKB
- bile acid and bile salt transport Source: UniProtKB
- bile acid metabolic process Source: Ensembl
- drug transmembrane transport Source: UniProtKB
- Golgi organization Source: GO_Central
- inner ear receptor cell development Source: Ensembl
- ion transmembrane transport Source: Reactome
- negative regulation of transcription, DNA-templated Source: UniProtKB
- phospholipid translocation Source: UniProtKB
- regulation of chloride transport Source: UniProtKB
- regulation of microvillus assembly Source: UniProtKB
- regulation of plasma membrane organization Source: Ensembl
- sensory perception of sound Source: UniProtKB-KW
- vestibulocochlear nerve formation Source: Ensembl
Keywordsi
Molecular function | Translocase |
Biological process | Hearing, Lipid transport, Transport |
Ligand | ATP-binding, Magnesium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 3.6.3.1, 2681 |
PathwayCommonsi | O43520 |
Reactomei | R-HSA-936837, Ion transport by P-type ATPases |
SIGNORi | O43520 |
Protein family/group databases
TCDBi | 3.A.3.8.11, the p-type atpase (p-atpase) superfamily |
Chemistry databases
SwissLipidsi | SLP:000000342 |
Names & Taxonomyi
Protein namesi | Recommended name: Phospholipid-transporting ATPase ICCurated (EC:7.6.2.12 Publications)Alternative name(s): ATPase class I type 8B member 1 Familial intrahepatic cholestasis type 1 P4-ATPase flippase complex alpha subunit ATP8B1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3706, ATP8B1 |
MIMi | 602397, gene |
neXtProti | NX_O43520 |
VEuPathDBi | HostDB:ENSG00000081923.10 |
Subcellular locationi
Plasma membrane
- Cell membrane 5 Publications; Multi-pass membrane protein
- Apical cell membrane 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 4 Publications
Golgi apparatus
- Golgi apparatus 1 Publication
Other locations
- stereocilium By similarity
Note: Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B (PubMed:20947505). Localizes to apical membranes in epithelial cells (PubMed:20512993).2 Publications
Cytosol
- cytosol Source: HPA
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
- trans-Golgi network Source: GO_Central
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- brush border membrane Source: Ensembl
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- phospholipid-translocating ATPase complex Source: UniProtKB
- stereocilium Source: UniProtKB-SubCell
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 108 | CytoplasmicSequence analysisAdd BLAST | 108 | |
Transmembranei | 109 – 130 | HelicalSequence analysisAdd BLAST | 22 | |
Topological domaini | 131 – 136 | Exoplasmic loopSequence analysis | 6 | |
Transmembranei | 137 – 156 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 157 – 340 | CytoplasmicSequence analysisAdd BLAST | 184 | |
Transmembranei | 341 – 362 | HelicalSequence analysisAdd BLAST | 22 | |
Topological domaini | 363 – 389 | Exoplasmic loopSequence analysisAdd BLAST | 27 | |
Transmembranei | 390 – 411 | HelicalSequence analysisAdd BLAST | 22 | |
Topological domaini | 412 – 949 | CytoplasmicSequence analysisAdd BLAST | 538 | |
Transmembranei | 950 – 970 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 971 – 982 | Exoplasmic loopSequence analysisAdd BLAST | 12 | |
Transmembranei | 983 – 1002 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 1003 – 1032 | CytoplasmicSequence analysisAdd BLAST | 30 | |
Transmembranei | 1033 – 1054 | HelicalSequence analysisAdd BLAST | 22 | |
Topological domaini | 1055 – 1068 | Exoplasmic loopSequence analysisAdd BLAST | 14 | |
Transmembranei | 1069 – 1091 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 1092 – 1097 | CytoplasmicSequence analysis | 6 | |
Transmembranei | 1098 – 1118 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1119 – 1138 | Exoplasmic loopSequence analysisAdd BLAST | 20 | |
Transmembranei | 1139 – 1163 | HelicalSequence analysisAdd BLAST | 25 | |
Topological domaini | 1164 – 1251 | CytoplasmicSequence analysisAdd BLAST | 88 |
Keywords - Cellular componenti
Cell membrane, Cell projection, Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Cholestasis, progressive familial intrahepatic, 1 (PFIC1)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043046 | 127 | L → P in PFIC1; loss of PC flippase activity. 2 Publications | 1 | |
Natural variantiVAR_071045 | 209 | P → T in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs515726138EnsemblClinVar. | 1 | |
Natural variantiVAR_008809 | 288 | L → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909099EnsemblClinVar. | 1 | |
Natural variantiVAR_008810 | 308 | G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs111033609EnsemblClinVar. | 1 | |
Natural variantiVAR_043053 | 403 | S → Y in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043054 | 412 | R → P in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043058 | 456 | T → M in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909104EnsemblClinVar. | 1 | |
Natural variantiVAR_043059 | 500 | Y → H in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs147642236EnsemblClinVar. | 1 | |
Natural variantiVAR_043060 | 529 | Missing in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043061 | 535 | H → L in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_015423 | 554 | D → N in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 3 PublicationsCorresponds to variant dbSNP:rs121909101EnsemblClinVar. | 1 | |
Natural variantiVAR_008811 | 645 – 699 | Missing in PFIC1. 1 PublicationAdd BLAST | 55 | |
Natural variantiVAR_008812 | 661 | I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 4 PublicationsCorresponds to variant dbSNP:rs121909100EnsemblClinVar. | 1 | |
Natural variantiVAR_043067 | 688 | D → G in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1337978497Ensembl. | 1 | |
Natural variantiVAR_043069 | 733 | G → R in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1350369369Ensembl. | 1 | |
Natural variantiVAR_043071 | 853 | F → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs773092889Ensembl. | 1 | |
Natural variantiVAR_008813 | 892 | G → R in PFIC1 and BRIC1. 2 PublicationsCorresponds to variant dbSNP:rs121909098EnsemblClinVar. | 1 | |
Natural variantiVAR_071046 | 1012 | S → I in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043073 | 1040 | G → R in PFIC1; greatly reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs1438249656Ensembl. | 1 |
Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043045 | 70 | D → N in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; reduces interaction with TMEM30A; has no effect on PC flippase activity. 4 PublicationsCorresponds to variant dbSNP:rs34719006EnsemblClinVar. | 1 | |
Natural variantiVAR_043049 | 308 | G → D in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs111033609EnsemblClinVar. | 1 | |
Natural variantiVAR_043050 | 344 | I → F in BRIC1; loss of PC flippase activity. 2 PublicationsCorresponds to variant dbSNP:rs140665115Ensembl. | 1 | |
Natural variantiVAR_043056 | 453 | S → Y in BRIC1. 1 Publication | 1 | |
Natural variantiVAR_043057 | 454 | D → G in BRIC1. 1 Publication | 1 | |
Natural variantiVAR_043063 | 600 | R → Q in BRIC1; compound heterozygote with N-70. 1 PublicationCorresponds to variant dbSNP:rs1202682161EnsemblClinVar. | 1 | |
Natural variantiVAR_043064 | 600 | R → W in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs780186596Ensembl. | 1 | |
Natural variantiVAR_043065 | 628 | R → W in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs752045131Ensembl. | 1 | |
Natural variantiVAR_008812 | 661 | I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 4 PublicationsCorresponds to variant dbSNP:rs121909100EnsemblClinVar. | 1 | |
Natural variantiVAR_043068 | 694 | I → T in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs541474497Ensembl. | 1 | |
Natural variantiVAR_008814 | 795 – 797 | Missing in BRIC1. 1 Publication | 3 | |
Natural variantiVAR_008813 | 892 | G → R in PFIC1 and BRIC1. 2 PublicationsCorresponds to variant dbSNP:rs121909098EnsemblClinVar. | 1 |
Cholestasis of pregnancy, intrahepatic 1 (ICP1)3 Publications
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043044 | 45 | N → T in ICP1. 1 PublicationCorresponds to variant dbSNP:rs146599962EnsemblClinVar. | 1 | |
Natural variantiVAR_043047 | 203 | K → E in ICP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56355310EnsemblClinVar. | 1 | |
Natural variantiVAR_043072 | 867 | R → C in ICP1; reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs121909103EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 234 | E → Q: Impaired PC flippase activity. 1 Publication | 1 | |
Mutagenesisi | 454 | D → A: Greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Intrahepatic cholestasisOrganism-specific databases
DisGeNETi | 5205 |
GeneReviewsi | ATP8B1 |
MalaCardsi | ATP8B1 |
MIMi | 147480, phenotype 211600, phenotype 243300, phenotype |
OpenTargetsi | ENSG00000081923 |
Orphaneti | 99960, Benign recurrent intrahepatic cholestasis type 1 69665, Intrahepatic cholestasis of pregnancy 79306, Progressive familial intrahepatic cholestasis type 1 |
PharmGKBi | PA265 |
Miscellaneous databases
Pharosi | O43520, Tbio |
Genetic variation databases
BioMutai | ATP8B1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000046364 | 1 – 1251 | Phospholipid-transporting ATPase ICAdd BLAST | 1251 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1223 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O43520 |
jPOSTi | O43520 |
MassIVEi | O43520 |
MaxQBi | O43520 |
PaxDbi | O43520 |
PeptideAtlasi | O43520 |
PRIDEi | O43520 |
ProteomicsDBi | 49008 |
PTM databases
iPTMneti | O43520 |
PhosphoSitePlusi | O43520 |
Expressioni
Tissue specificityi
Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine.
Gene expression databases
Bgeei | ENSG00000081923, Expressed in cerebellar vermis and 250 other tissues |
ExpressionAtlasi | O43520, baseline and differential |
Genevisiblei | O43520, HS |
Organism-specific databases
HPAi | ENSG00000081923, Tissue enhanced (intestine) |
Interactioni
Subunit structurei
Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit ATP8B1 and an accessory beta subunit TMEM30A (PubMed:17948906, PubMed:25239307). The flippase ATP8B1:TMEM30A complex can form an intermediate phosphoenzyme in vitro (PubMed:20947505, PubMed:20961850, PubMed:21914794).
Also interacts with beta subunit TMEM30B (PubMed:20947505, PubMed:20961850, PubMed:21914794).
5 PublicationsBinary interactionsi
Hide detailsO43520
With | #Exp. | IntAct |
---|---|---|
TMEM30A [Q9NV96] | 9 | EBI-9524729,EBI-2836942 |
TMEM30B [Q3MIR4] | 5 | EBI-9524729,EBI-9527107 |
Protein-protein interaction databases
BioGRIDi | 111227, 6 interactors |
ComplexPortali | CPX-6282, ATP8B1-CDC50A P4-ATPase complex |
IntActi | O43520, 3 interactors |
STRINGi | 9606.ENSP00000445359 |
Miscellaneous databases
RNActi | O43520, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0206, Eukaryota |
GeneTreei | ENSGT00940000158002 |
HOGENOMi | CLU_000846_3_2_1 |
InParanoidi | O43520 |
OMAi | ARCNTNT |
OrthoDBi | 587717at2759 |
PhylomeDBi | O43520 |
TreeFami | TF300654 |
Family and domain databases
Gene3Di | 3.40.1110.10, 1 hit |
InterProi | View protein in InterPro IPR030346, ATP8B1 IPR023299, ATPase_P-typ_cyto_dom_N IPR018303, ATPase_P-typ_P_site IPR023298, ATPase_P-typ_TM_dom_sf IPR008250, ATPase_P-typ_transduc_dom_A_sf IPR036412, HAD-like_sf IPR006539, P-type_ATPase_IV IPR032631, P-type_ATPase_N IPR001757, P_typ_ATPase IPR032630, P_typ_ATPase_c IPR044492, P_typ_ATPase_HD_dom |
PANTHERi | PTHR24092, PTHR24092, 1 hit PTHR24092:SF48, PTHR24092:SF48, 1 hit |
Pfami | View protein in Pfam PF16212, PhoLip_ATPase_C, 1 hit PF16209, PhoLip_ATPase_N, 1 hit |
SFLDi | SFLDF00027, p-type_atpase, 1 hit |
SUPFAMi | SSF56784, SSF56784, 1 hit SSF81653, SSF81653, 1 hit SSF81660, SSF81660, 1 hit SSF81665, SSF81665, 1 hit |
TIGRFAMsi | TIGR01652, ATPase-Plipid, 1 hit TIGR01494, ATPase_P-type, 1 hit |
PROSITEi | View protein in PROSITE PS00154, ATPASE_E1_E2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
O43520-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSTERDSETT FDEDSQPNDE VVPYSDDETE DELDDQGSAV EPEQNRVNRE
60 70 80 90 100
AEENREPFRK ECTWQVKAND RKYHEQPHFM NTKFLCIKES KYANNAIKTY
110 120 130 140 150
KYNAFTFIPM NLFEQFKRAA NLYFLALLIL QAVPQISTLA WYTTLVPLLV
160 170 180 190 200
VLGVTAIKDL VDDVARHKMD KEINNRTCEV IKDGRFKVAK WKEIQVGDVI
210 220 230 240 250
RLKKNDFVPA DILLLSSSEP NSLCYVETAE LDGETNLKFK MSLEITDQYL
260 270 280 290 300
QREDTLATFD GFIECEEPNN RLDKFTGTLF WRNTSFPLDA DKILLRGCVI
310 320 330 340 350
RNTDFCHGLV IFAGADTKIM KNSGKTRFKR TKIDYLMNYM VYTIFVVLIL
360 370 380 390 400
LSAGLAIGHA YWEAQVGNSS WYLYDGEDDT PSYRGFLIFW GYIIVLNTMV
410 420 430 440 450
PISLYVSVEV IRLGQSHFIN WDLQMYYAEK DTPAKARTTT LNEQLGQIHY
460 470 480 490 500
IFSDKTGTLT QNIMTFKKCC INGQIYGDHR DASQHNHNKI EQVDFSWNTY
510 520 530 540 550
ADGKLAFYDH YLIEQIQSGK EPEVRQFFFL LAVCHTVMVD RTDGQLNYQA
560 570 580 590 600
ASPDEGALVN AARNFGFAFL ARTQNTITIS ELGTERTYNV LAILDFNSDR
610 620 630 640 650
KRMSIIVRTP EGNIKLYCKG ADTVIYERLH RMNPTKQETQ DALDIFANET
660 670 680 690 700
LRTLCLCYKE IEEKEFTEWN KKFMAASVAS TNRDEALDKV YEEIEKDLIL
710 720 730 740 750
LGATAIEDKL QDGVPETISK LAKADIKIWV LTGDKKETAE NIGFACELLT
760 770 780 790 800
EDTTICYGED INSLLHARME NQRNRGGVYA KFAPPVQESF FPPGGNRALI
810 820 830 840 850
ITGSWLNEIL LEKKTKRNKI LKLKFPRTEE ERRMRTQSKR RLEAKKEQRQ
860 870 880 890 900
KNFVDLACEC SAVICCRVTP KQKAMVVDLV KRYKKAITLA IGDGANDVNM
910 920 930 940 950
IKTAHIGVGI SGQEGMQAVM SSDYSFAQFR YLQRLLLVHG RWSYIRMCKF
960 970 980 990 1000
LRYFFYKNFA FTLVHFWYSF FNGYSAQTAY EDWFITLYNV LYTSLPVLLM
1010 1020 1030 1040 1050
GLLDQDVSDK LSLRFPGLYI VGQRDLLFNY KRFFVSLLHG VLTSMILFFI
1060 1070 1080 1090 1100
PLGAYLQTVG QDGEAPSDYQ SFAVTIASAL VITVNFQIGL DTSYWTFVNA
1110 1120 1130 1140 1150
FSIFGSIALY FGIMFDFHSA GIHVLFPSAF QFTGTASNAL RQPYIWLTII
1160 1170 1180 1190 1200
LAVAVCLLPV VAIRFLSMTI WPSESDKIQK HRKRLKAEEQ WQRRQQVFRR
1210 1220 1230 1240 1250
GVSTRRSAYA FSHQRGYADL ISSGRSIRKK RSPLDAIVAD GTAEYRRTGD
S
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y5C5 | A0A2R8Y5C5_HUMAN | Phospholipid-transporting ATPase | ATP8B1 | 946 | Annotation score: | ||
A0A3B3IRQ1 | A0A3B3IRQ1_HUMAN | Phospholipid-transporting ATPase | ATP8B1 | 498 | Annotation score: | ||
K7EQC4 | K7EQC4_HUMAN | Phospholipid-transporting ATPase IC | ATP8B1 | 61 | Annotation score: | ||
K7ESK2 | K7ESK2_HUMAN | Phospholipid-transporting ATPase IC | ATP8B1 | 11 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1016 | P → L in AAH03534 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043044 | 45 | N → T in ICP1. 1 PublicationCorresponds to variant dbSNP:rs146599962EnsemblClinVar. | 1 | |
Natural variantiVAR_043045 | 70 | D → N in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; reduces interaction with TMEM30A; has no effect on PC flippase activity. 4 PublicationsCorresponds to variant dbSNP:rs34719006EnsemblClinVar. | 1 | |
Natural variantiVAR_029271 | 78 | H → Q. Corresponds to variant dbSNP:rs3745079EnsemblClinVar. | 1 | |
Natural variantiVAR_043046 | 127 | L → P in PFIC1; loss of PC flippase activity. 2 Publications | 1 | |
Natural variantiVAR_043047 | 203 | K → E in ICP1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56355310EnsemblClinVar. | 1 | |
Natural variantiVAR_071045 | 209 | P → T in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs515726138EnsemblClinVar. | 1 | |
Natural variantiVAR_008809 | 288 | L → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909099EnsemblClinVar. | 1 | |
Natural variantiVAR_043048 | 305 | F → I1 PublicationCorresponds to variant dbSNP:rs150860808EnsemblClinVar. | 1 | |
Natural variantiVAR_043049 | 308 | G → D in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs111033609EnsemblClinVar. | 1 | |
Natural variantiVAR_008810 | 308 | G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs111033609EnsemblClinVar. | 1 | |
Natural variantiVAR_043050 | 344 | I → F in BRIC1; loss of PC flippase activity. 2 PublicationsCorresponds to variant dbSNP:rs140665115Ensembl. | 1 | |
Natural variantiVAR_043051 | 384 | R → H. Corresponds to variant dbSNP:rs2271260Ensembl. | 1 | |
Natural variantiVAR_043052 | 393 | I → V. Corresponds to variant dbSNP:rs34315917EnsemblClinVar. | 1 | |
Natural variantiVAR_043053 | 403 | S → Y in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043054 | 412 | R → P in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043055 | 429 | E → A1 PublicationCorresponds to variant dbSNP:rs34018205EnsemblClinVar. | 1 | |
Natural variantiVAR_043056 | 453 | S → Y in BRIC1. 1 Publication | 1 | |
Natural variantiVAR_043057 | 454 | D → G in BRIC1. 1 Publication | 1 | |
Natural variantiVAR_043058 | 456 | T → M in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909104EnsemblClinVar. | 1 | |
Natural variantiVAR_043059 | 500 | Y → H in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs147642236EnsemblClinVar. | 1 | |
Natural variantiVAR_043060 | 529 | Missing in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043061 | 535 | H → L in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_015423 | 554 | D → N in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 3 PublicationsCorresponds to variant dbSNP:rs121909101EnsemblClinVar. | 1 | |
Natural variantiVAR_029272 | 577 | I → V. Corresponds to variant dbSNP:rs3745078EnsemblClinVar. | 1 | |
Natural variantiVAR_043062 | 580 | S → N. Corresponds to variant dbSNP:rs33963153EnsemblClinVar. | 1 | |
Natural variantiVAR_043063 | 600 | R → Q in BRIC1; compound heterozygote with N-70. 1 PublicationCorresponds to variant dbSNP:rs1202682161EnsemblClinVar. | 1 | |
Natural variantiVAR_043064 | 600 | R → W in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs780186596Ensembl. | 1 | |
Natural variantiVAR_043065 | 628 | R → W in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs752045131Ensembl. | 1 | |
Natural variantiVAR_008811 | 645 – 699 | Missing in PFIC1. 1 PublicationAdd BLAST | 55 | |
Natural variantiVAR_008812 | 661 | I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 4 PublicationsCorresponds to variant dbSNP:rs121909100EnsemblClinVar. | 1 | |
Natural variantiVAR_043066 | 674 | M → T. Corresponds to variant dbSNP:rs35470719EnsemblClinVar. | 1 | |
Natural variantiVAR_043067 | 688 | D → G in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1337978497Ensembl. | 1 | |
Natural variantiVAR_043068 | 694 | I → T in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs541474497Ensembl. | 1 | |
Natural variantiVAR_043069 | 733 | G → R in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1350369369Ensembl. | 1 | |
Natural variantiVAR_008814 | 795 – 797 | Missing in BRIC1. 1 Publication | 3 | |
Natural variantiVAR_043070 | 814 | K → N. Corresponds to variant dbSNP:rs34018300EnsemblClinVar. | 1 | |
Natural variantiVAR_043071 | 853 | F → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs773092889Ensembl. | 1 | |
Natural variantiVAR_043072 | 867 | R → C in ICP1; reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs121909103EnsemblClinVar. | 1 | |
Natural variantiVAR_036499 | 886 | A → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs767398921Ensembl. | 1 | |
Natural variantiVAR_008813 | 892 | G → R in PFIC1 and BRIC1. 2 PublicationsCorresponds to variant dbSNP:rs121909098EnsemblClinVar. | 1 | |
Natural variantiVAR_029273 | 952 | R → Q2 PublicationsCorresponds to variant dbSNP:rs12968116EnsemblClinVar. | 1 | |
Natural variantiVAR_071046 | 1012 | S → I in PFIC1. 1 Publication | 1 | |
Natural variantiVAR_043073 | 1040 | G → R in PFIC1; greatly reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs1438249656Ensembl. | 1 | |
Natural variantiVAR_055045 | 1152 | A → T2 PublicationsCorresponds to variant dbSNP:rs222581Ensembl. | 1 | |
Natural variantiVAR_036500 | 1178 | I → M in a breast cancer sample; somatic mutation. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF038007 mRNA Translation: AAC63461.1 AC027097 Genomic DNA No translation available. AF032442 mRNA Translation: AAC04328.1 BC003534 mRNA Translation: AAH03534.1 |
CCDSi | CCDS11965.1 |
RefSeqi | NP_005594.1, NM_005603.4 XP_006722544.1, XM_006722481.3 XP_011524324.1, XM_011526022.2 |
Genome annotation databases
Ensembli | ENST00000648908; ENSP00000497896; ENSG00000081923 |
GeneIDi | 5205 |
KEGGi | hsa:5205 |
UCSCi | uc002lgw.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF038007 mRNA Translation: AAC63461.1 AC027097 Genomic DNA No translation available. AF032442 mRNA Translation: AAC04328.1 BC003534 mRNA Translation: AAH03534.1 |
CCDSi | CCDS11965.1 |
RefSeqi | NP_005594.1, NM_005603.4 XP_006722544.1, XM_006722481.3 XP_011524324.1, XM_011526022.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 111227, 6 interactors |
ComplexPortali | CPX-6282, ATP8B1-CDC50A P4-ATPase complex |
IntActi | O43520, 3 interactors |
STRINGi | 9606.ENSP00000445359 |
Chemistry databases
SwissLipidsi | SLP:000000342 |
Protein family/group databases
TCDBi | 3.A.3.8.11, the p-type atpase (p-atpase) superfamily |
PTM databases
iPTMneti | O43520 |
PhosphoSitePlusi | O43520 |
Genetic variation databases
BioMutai | ATP8B1 |
Proteomic databases
EPDi | O43520 |
jPOSTi | O43520 |
MassIVEi | O43520 |
MaxQBi | O43520 |
PaxDbi | O43520 |
PeptideAtlasi | O43520 |
PRIDEi | O43520 |
ProteomicsDBi | 49008 |
Protocols and materials databases
Antibodypediai | 9722, 44 antibodies |
Genome annotation databases
Ensembli | ENST00000648908; ENSP00000497896; ENSG00000081923 |
GeneIDi | 5205 |
KEGGi | hsa:5205 |
UCSCi | uc002lgw.5, human |
Organism-specific databases
CTDi | 5205 |
DisGeNETi | 5205 |
GeneCardsi | ATP8B1 |
GeneReviewsi | ATP8B1 |
HGNCi | HGNC:3706, ATP8B1 |
HPAi | ENSG00000081923, Tissue enhanced (intestine) |
MalaCardsi | ATP8B1 |
MIMi | 147480, phenotype 211600, phenotype 243300, phenotype 602397, gene |
neXtProti | NX_O43520 |
OpenTargetsi | ENSG00000081923 |
Orphaneti | 99960, Benign recurrent intrahepatic cholestasis type 1 69665, Intrahepatic cholestasis of pregnancy 79306, Progressive familial intrahepatic cholestasis type 1 |
PharmGKBi | PA265 |
VEuPathDBi | HostDB:ENSG00000081923.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0206, Eukaryota |
GeneTreei | ENSGT00940000158002 |
HOGENOMi | CLU_000846_3_2_1 |
InParanoidi | O43520 |
OMAi | ARCNTNT |
OrthoDBi | 587717at2759 |
PhylomeDBi | O43520 |
TreeFami | TF300654 |
Enzyme and pathway databases
BRENDAi | 3.6.3.1, 2681 |
PathwayCommonsi | O43520 |
Reactomei | R-HSA-936837, Ion transport by P-type ATPases |
SIGNORi | O43520 |
Miscellaneous databases
BioGRID-ORCSi | 5205, 9 hits in 986 CRISPR screens |
ChiTaRSi | ATP8B1, human |
GeneWikii | ATP8B1 |
GenomeRNAii | 5205 |
Pharosi | O43520, Tbio |
PROi | PR:O43520 |
RNActi | O43520, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000081923, Expressed in cerebellar vermis and 250 other tissues |
ExpressionAtlasi | O43520, baseline and differential |
Genevisiblei | O43520, HS |
Family and domain databases
Gene3Di | 3.40.1110.10, 1 hit |
InterProi | View protein in InterPro IPR030346, ATP8B1 IPR023299, ATPase_P-typ_cyto_dom_N IPR018303, ATPase_P-typ_P_site IPR023298, ATPase_P-typ_TM_dom_sf IPR008250, ATPase_P-typ_transduc_dom_A_sf IPR036412, HAD-like_sf IPR006539, P-type_ATPase_IV IPR032631, P-type_ATPase_N IPR001757, P_typ_ATPase IPR032630, P_typ_ATPase_c IPR044492, P_typ_ATPase_HD_dom |
PANTHERi | PTHR24092, PTHR24092, 1 hit PTHR24092:SF48, PTHR24092:SF48, 1 hit |
Pfami | View protein in Pfam PF16212, PhoLip_ATPase_C, 1 hit PF16209, PhoLip_ATPase_N, 1 hit |
SFLDi | SFLDF00027, p-type_atpase, 1 hit |
SUPFAMi | SSF56784, SSF56784, 1 hit SSF81653, SSF81653, 1 hit SSF81660, SSF81660, 1 hit SSF81665, SSF81665, 1 hit |
TIGRFAMsi | TIGR01652, ATPase-Plipid, 1 hit TIGR01494, ATPase_P-type, 1 hit |
PROSITEi | View protein in PROSITE PS00154, ATPASE_E1_E2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AT8B1_HUMAN | |
Accessioni | O43520Primary (citable) accession number: O43520 Secondary accession number(s): Q9BTP8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | May 5, 2009 | |
Last modified: | April 7, 2021 | |
This is version 207 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families