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UniProtKB - O43520 (AT8B1_HUMAN)

Protein

Phospholipid-transporting ATPase IC

Gene

ATP8B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury.3 Publications

Catalytic activityi

ATP + H2O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei4544-aspartylphosphate intermediateBy similarity1
Metal bindingi893MagnesiumBy similarity1
Metal bindingi897MagnesiumBy similarity1

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • magnesium ion binding Source: InterPro
  • phospholipid-translocating ATPase activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • bile acid and bile salt transport Source: UniProtKB
  • drug transmembrane transport Source: UniProtKB
  • Golgi organization Source: GO_Central
  • ion transmembrane transport Source: Reactome
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • phospholipid translocation Source: UniProtKB
  • regulation of microvillus assembly Source: UniProtKB
  • sensory perception of sound Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTranslocase
Biological processHearing, Lipid transport, Transport
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi3.6.3.1 2681
ReactomeiR-HSA-936837 Ion transport by P-type ATPases

Protein family/group databases

TCDBi3.A.3.8.11 the p-type atpase (p-atpase) superfamily

Chemistry databases

SwissLipidsiSLP:000000342

Names & Taxonomyi

Protein namesi
Recommended name:
Phospholipid-transporting ATPase IC (EC:7.6.2.1)
Alternative name(s):
ATPase class I type 8B member 1
Familial intrahepatic cholestasis type 1
P4-ATPase flippase complex alpha subunit ATP8B1
Gene namesi
Name:ATP8B1
Synonyms:ATPIC, FIC1, PFIC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000081923.10
HGNCiHGNC:3706 ATP8B1
MIMi602397 gene
neXtProtiNX_O43520

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 108CytoplasmicSequence analysisAdd BLAST108
Transmembranei109 – 130HelicalSequence analysisAdd BLAST22
Topological domaini131 – 136Exoplasmic loopSequence analysis6
Transmembranei137 – 156HelicalSequence analysisAdd BLAST20
Topological domaini157 – 340CytoplasmicSequence analysisAdd BLAST184
Transmembranei341 – 362HelicalSequence analysisAdd BLAST22
Topological domaini363 – 389Exoplasmic loopSequence analysisAdd BLAST27
Transmembranei390 – 411HelicalSequence analysisAdd BLAST22
Topological domaini412 – 949CytoplasmicSequence analysisAdd BLAST538
Transmembranei950 – 970HelicalSequence analysisAdd BLAST21
Topological domaini971 – 982Exoplasmic loopSequence analysisAdd BLAST12
Transmembranei983 – 1002HelicalSequence analysisAdd BLAST20
Topological domaini1003 – 1032CytoplasmicSequence analysisAdd BLAST30
Transmembranei1033 – 1054HelicalSequence analysisAdd BLAST22
Topological domaini1055 – 1068Exoplasmic loopSequence analysisAdd BLAST14
Transmembranei1069 – 1091HelicalSequence analysisAdd BLAST23
Topological domaini1092 – 1097CytoplasmicSequence analysis6
Transmembranei1098 – 1118HelicalSequence analysisAdd BLAST21
Topological domaini1119 – 1138Exoplasmic loopSequence analysisAdd BLAST20
Transmembranei1139 – 1163HelicalSequence analysisAdd BLAST25
Topological domaini1164 – 1251CytoplasmicSequence analysisAdd BLAST88

Keywords - Cellular componenti

Cell membrane, Cell projection, Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Cholestasis, progressive familial intrahepatic, 1 (PFIC1)6 Publications
The disease is caused by mutations 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.
See also OMIM:211600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043046127L → P in PFIC1. 1 Publication1
Natural variantiVAR_071045209P → T in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs515726138EnsemblClinVar.1
Natural variantiVAR_008809288L → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909099EnsemblClinVar.1
Natural variantiVAR_008810308G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs111033609EnsemblClinVar.1
Natural variantiVAR_043053403S → Y in PFIC1. 1 Publication1
Natural variantiVAR_043054412R → P in PFIC1. 1 Publication1
Natural variantiVAR_043058456T → M in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909104EnsemblClinVar.1
Natural variantiVAR_043059500Y → H in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs147642236EnsemblClinVar.1
Natural variantiVAR_043060529Missing in PFIC1. 1 Publication1
Natural variantiVAR_043061535H → L in PFIC1. 1 Publication1
Natural variantiVAR_015423554D → N in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 3 PublicationsCorresponds to variant dbSNP:rs121909101EnsemblClinVar.1
Natural variantiVAR_008811645 – 699Missing in PFIC1. 1 PublicationAdd BLAST55
Natural variantiVAR_043067688D → G in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1337978497Ensembl.1
Natural variantiVAR_043069733G → R in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1350369369Ensembl.1
Natural variantiVAR_043071853F → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs773092889Ensembl.1
Natural variantiVAR_0710461012S → I in PFIC1. 1 Publication1
Natural variantiVAR_0430731040G → R in PFIC1; greatly reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs1438249656Ensembl.1
Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)4 Publications
The disease is caused by mutations 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.
See also OMIM:243300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04304570D → N in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; reduces interaction with TMEM30A. 3 PublicationsCorresponds to variant dbSNP:rs34719006EnsemblClinVar.1
Natural variantiVAR_043049308G → D in BRIC1. 1 Publication1
Natural variantiVAR_043050344I → F in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs140665115Ensembl.1
Natural variantiVAR_043056453S → Y in BRIC1. 1 Publication1
Natural variantiVAR_043057454D → G in BRIC1. 1 Publication1
Natural variantiVAR_043063600R → Q in BRIC1; compound heterozygote with N-70. 1 PublicationCorresponds to variant dbSNP:rs1202682161Ensembl.1
Natural variantiVAR_043064600R → W in BRIC1. 1 Publication1
Natural variantiVAR_043065628R → W in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs752045131Ensembl.1
Natural variantiVAR_043068694I → T in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs541474497Ensembl.1
Natural variantiVAR_008814795 – 797Missing in BRIC1. 1 Publication3
Cholestasis of pregnancy, intrahepatic 1 (ICP1)3 Publications
The disease may be caused by mutations 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.
See also OMIM:147480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04304445N → T in ICP1. 1 PublicationCorresponds to variant dbSNP:rs146599962EnsemblClinVar.1
Natural variantiVAR_043047203K → E in ICP1. 1 PublicationCorresponds to variant dbSNP:rs56355310EnsemblClinVar.1
Natural variantiVAR_043072867R → C in ICP1; reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs121909103EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi454D → A: Greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 1 Publication1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNETi5205
GeneReviewsiATP8B1
MalaCardsiATP8B1
MIMi147480 phenotype
211600 phenotype
243300 phenotype
OpenTargetsiENSG00000081923
Orphaneti99960 Benign recurrent intrahepatic cholestasis type 1
69665 Intrahepatic cholestasis of pregnancy
79306 Progressive familial intrahepatic cholestasis type 1
PharmGKBiPA265

Polymorphism and mutation databases

BioMutaiATP8B1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000463641 – 1251Phospholipid-transporting ATPase ICAdd BLAST1251

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1223PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO43520
MaxQBiO43520
PaxDbiO43520
PeptideAtlasiO43520
PRIDEiO43520
ProteomicsDBi49008

PTM databases

iPTMnetiO43520
PhosphoSitePlusiO43520

Expressioni

Tissue specificityi

Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine.

Gene expression databases

BgeeiENSG00000081923 Expressed in 239 organ(s), highest expression level in cerebellar vermis
CleanExiHS_ATP8B1
ExpressionAtlasiO43520 baseline and differential
GenevisibleiO43520 HS

Organism-specific databases

HPAiHPA018673
HPA018674

Interactioni

Subunit structurei

Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). The probable flippase ATP8B1:TMEM30A complex can form an intermediate phosphoenzyme in vitro. Also interacts with beta subunit TMEM30B.Curated4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TMEM30AQ9NV963EBI-9524729,EBI-2836942

Protein-protein interaction databases

BioGridi111227, 3 interactors
IntActiO43520, 2 interactors
STRINGi9606.ENSP00000283684

Structurei

3D structure databases

ProteinModelPortaliO43520
ModBaseiSearch...
MobiDBiSearch...

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 helix

Phylogenomic databases

eggNOGiENOG410ITKD Eukaryota
ENOG410XPYK LUCA
GeneTreeiENSGT00910000144008
HOGENOMiHOG000202528
HOVERGENiHBG050601
InParanoidiO43520
KOiK01530
OMAiFKMALEI
OrthoDBiEOG091G0139
PhylomeDBiO43520
TreeFamiTF300654

Family and domain databases

Gene3Di3.40.1110.10, 1 hit
InterProiView 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
PANTHERiPTHR24092 PTHR24092, 1 hit
PTHR24092:SF48 PTHR24092:SF48, 1 hit
PfamiView protein in Pfam
PF16212 PhoLip_ATPase_C, 1 hit
PF16209 PhoLip_ATPase_N, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit
TIGRFAMsiTIGR01652 ATPase-Plipid, 1 hit
TIGR01494 ATPase_P-type, 1 hit
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:1,251
Mass (Da):143,695
Last modified:May 5, 2009 - v3
Checksum:i770FEF3946CB579F
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5C5A0A2R8Y5C5_HUMAN
Phospholipid-transporting ATPase
ATP8B1
946Annotation score:
K7ERI0K7ERI0_HUMAN
Phospholipid-transporting ATPase IC
ATP8B1
92Annotation score:
K7EQC4K7EQC4_HUMAN
Phospholipid-transporting ATPase IC
ATP8B1
61Annotation score:
K7ESK2K7ESK2_HUMAN
Phospholipid-transporting ATPase IC
ATP8B1
11Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1016P → L in AAH03534 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04304445N → T in ICP1. 1 PublicationCorresponds to variant dbSNP:rs146599962EnsemblClinVar.1
Natural variantiVAR_04304570D → N in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; reduces interaction with TMEM30A. 3 PublicationsCorresponds to variant dbSNP:rs34719006EnsemblClinVar.1
Natural variantiVAR_02927178H → Q. Corresponds to variant dbSNP:rs3745079EnsemblClinVar.1
Natural variantiVAR_043046127L → P in PFIC1. 1 Publication1
Natural variantiVAR_043047203K → E in ICP1. 1 PublicationCorresponds to variant dbSNP:rs56355310EnsemblClinVar.1
Natural variantiVAR_071045209P → T in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs515726138EnsemblClinVar.1
Natural variantiVAR_008809288L → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909099EnsemblClinVar.1
Natural variantiVAR_043048305F → I1 PublicationCorresponds to variant dbSNP:rs150860808EnsemblClinVar.1
Natural variantiVAR_043049308G → D in BRIC1. 1 Publication1
Natural variantiVAR_008810308G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs111033609EnsemblClinVar.1
Natural variantiVAR_043050344I → F in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs140665115Ensembl.1
Natural variantiVAR_043051384R → H. Corresponds to variant dbSNP:rs2271260Ensembl.1
Natural variantiVAR_043052393I → V. Corresponds to variant dbSNP:rs34315917EnsemblClinVar.1
Natural variantiVAR_043053403S → Y in PFIC1. 1 Publication1
Natural variantiVAR_043054412R → P in PFIC1. 1 Publication1
Natural variantiVAR_043055429E → A1 PublicationCorresponds to variant dbSNP:rs34018205EnsemblClinVar.1
Natural variantiVAR_043056453S → Y in BRIC1. 1 Publication1
Natural variantiVAR_043057454D → G in BRIC1. 1 Publication1
Natural variantiVAR_043058456T → M in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs121909104EnsemblClinVar.1
Natural variantiVAR_043059500Y → H in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs147642236EnsemblClinVar.1
Natural variantiVAR_043060529Missing in PFIC1. 1 Publication1
Natural variantiVAR_043061535H → L in PFIC1. 1 Publication1
Natural variantiVAR_015423554D → N in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 3 PublicationsCorresponds to variant dbSNP:rs121909101EnsemblClinVar.1
Natural variantiVAR_029272577I → V. Corresponds to variant dbSNP:rs3745078EnsemblClinVar.1
Natural variantiVAR_043062580S → N. Corresponds to variant dbSNP:rs33963153EnsemblClinVar.1
Natural variantiVAR_043063600R → Q in BRIC1; compound heterozygote with N-70. 1 PublicationCorresponds to variant dbSNP:rs1202682161Ensembl.1
Natural variantiVAR_043064600R → W in BRIC1. 1 Publication1
Natural variantiVAR_043065628R → W in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs752045131Ensembl.1
Natural variantiVAR_008811645 – 699Missing in PFIC1. 1 PublicationAdd BLAST55
Natural variantiVAR_008812661I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 4 PublicationsCorresponds to variant dbSNP:rs121909100EnsemblClinVar.1
Natural variantiVAR_043066674M → T. Corresponds to variant dbSNP:rs35470719EnsemblClinVar.1
Natural variantiVAR_043067688D → G in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1337978497Ensembl.1
Natural variantiVAR_043068694I → T in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs541474497Ensembl.1
Natural variantiVAR_043069733G → R in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs1350369369Ensembl.1
Natural variantiVAR_008814795 – 797Missing in BRIC1. 1 Publication3
Natural variantiVAR_043070814K → N. Corresponds to variant dbSNP:rs34018300EnsemblClinVar.1
Natural variantiVAR_043071853F → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs773092889Ensembl.1
Natural variantiVAR_043072867R → C in ICP1; reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs121909103EnsemblClinVar.1
Natural variantiVAR_036499886A → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs767398921Ensembl.1
Natural variantiVAR_008813892G → R in PFIC1 and BRIC1. 2 PublicationsCorresponds to variant dbSNP:rs121909098EnsemblClinVar.1
Natural variantiVAR_029273952R → Q2 PublicationsCorresponds to variant dbSNP:rs12968116EnsemblClinVar.1
Natural variantiVAR_0710461012S → I in PFIC1. 1 Publication1
Natural variantiVAR_0430731040G → R in PFIC1; greatly reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant dbSNP:rs1438249656Ensembl.1
Natural variantiVAR_0550451152A → T2 PublicationsCorresponds to variant dbSNP:rs222581Ensembl.1
Natural variantiVAR_0365001178I → M in a breast cancer sample; somatic mutation. 1 Publication1

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
CCDSiCCDS11965.1
RefSeqiNP_005594.1, NM_005603.4
XP_006722544.1, XM_006722481.3
XP_011524324.1, XM_011526022.2
UniGeneiHs.216623

Genome annotation databases

EnsembliENST00000283684; ENSP00000283684; ENSG00000081923
GeneIDi5205
KEGGihsa:5205
UCSCiuc002lgw.5 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS11965.1
RefSeqiNP_005594.1, NM_005603.4
XP_006722544.1, XM_006722481.3
XP_011524324.1, XM_011526022.2
UniGeneiHs.216623

3D structure databases

ProteinModelPortaliO43520
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111227, 3 interactors
IntActiO43520, 2 interactors
STRINGi9606.ENSP00000283684

Chemistry databases

SwissLipidsiSLP:000000342

Protein family/group databases

TCDBi3.A.3.8.11 the p-type atpase (p-atpase) superfamily

PTM databases

iPTMnetiO43520
PhosphoSitePlusiO43520

Polymorphism and mutation databases

BioMutaiATP8B1

Proteomic databases

EPDiO43520
MaxQBiO43520
PaxDbiO43520
PeptideAtlasiO43520
PRIDEiO43520
ProteomicsDBi49008

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283684; ENSP00000283684; ENSG00000081923
GeneIDi5205
KEGGihsa:5205
UCSCiuc002lgw.5 human

Organism-specific databases

CTDi5205
DisGeNETi5205
EuPathDBiHostDB:ENSG00000081923.10
GeneCardsiATP8B1
GeneReviewsiATP8B1
HGNCiHGNC:3706 ATP8B1
HPAiHPA018673
HPA018674
MalaCardsiATP8B1
MIMi147480 phenotype
211600 phenotype
243300 phenotype
602397 gene
neXtProtiNX_O43520
OpenTargetsiENSG00000081923
Orphaneti99960 Benign recurrent intrahepatic cholestasis type 1
69665 Intrahepatic cholestasis of pregnancy
79306 Progressive familial intrahepatic cholestasis type 1
PharmGKBiPA265
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITKD Eukaryota
ENOG410XPYK LUCA
GeneTreeiENSGT00910000144008
HOGENOMiHOG000202528
HOVERGENiHBG050601
InParanoidiO43520
KOiK01530
OMAiFKMALEI
OrthoDBiEOG091G0139
PhylomeDBiO43520
TreeFamiTF300654

Enzyme and pathway databases

BRENDAi3.6.3.1 2681
ReactomeiR-HSA-936837 Ion transport by P-type ATPases

Miscellaneous databases

ChiTaRSiATP8B1 human
GeneWikiiATP8B1
GenomeRNAii5205
PROiPR:O43520
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000081923 Expressed in 239 organ(s), highest expression level in cerebellar vermis
CleanExiHS_ATP8B1
ExpressionAtlasiO43520 baseline and differential
GenevisibleiO43520 HS

Family and domain databases

Gene3Di3.40.1110.10, 1 hit
InterProiView 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
PANTHERiPTHR24092 PTHR24092, 1 hit
PTHR24092:SF48 PTHR24092:SF48, 1 hit
PfamiView protein in Pfam
PF16212 PhoLip_ATPase_C, 1 hit
PF16209 PhoLip_ATPase_N, 1 hit
SUPFAMiSSF56784 SSF56784, 1 hit
SSF81653 SSF81653, 1 hit
SSF81660 SSF81660, 1 hit
SSF81665 SSF81665, 1 hit
TIGRFAMsiTIGR01652 ATPase-Plipid, 1 hit
TIGR01494 ATPase_P-type, 1 hit
PROSITEiView protein in PROSITE
PS00154 ATPASE_E1_E2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAT8B1_HUMAN
AccessioniPrimary (citable) accession number: O43520
Secondary accession number(s): Q9BTP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 5, 2009
Last modified: November 7, 2018
This is version 188 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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