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Protein

Phospholipid-transporting ATPase IC

Gene

ATP8B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • cardiolipin binding Source: Ensembl
  • magnesium ion binding Source: InterPro
  • phospholipid-translocating ATPase activity Source: UniProtKB

GO - Biological processi

  • 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 microvillus assembly Source: UniProtKB
  • sensory perception of sound Source: UniProtKB-KW
  • vestibulocochlear nerve formation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Hearing, Lipid transport, Transport

Keywords - Ligandi

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS01408-MONOMER.
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:3.6.3.1)
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:3706. ATP8B1.

Subcellular locationi

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

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • brush border membrane Source: Ensembl
  • endoplasmic reticulum Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • stereocilium Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Cholestasis, progressive familial intrahepatic, 1 (PFIC1)5 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 rs515726138dbSNPEnsembl.1
Natural variantiVAR_008809288L → S in PFIC1. 1 PublicationCorresponds to variant rs121909099dbSNPEnsembl.1
Natural variantiVAR_008810308G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 PublicationsCorresponds to variant rs28939685dbSNPEnsembl.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 rs121909104dbSNPEnsembl.1
Natural variantiVAR_043059500Y → H in PFIC1. 1 PublicationCorresponds to variant rs147642236dbSNPEnsembl.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 rs121909101dbSNPEnsembl.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 rs28939686dbSNPEnsembl.1
Natural variantiVAR_043067688D → G in PFIC1. 1 Publication1
Natural variantiVAR_043069733G → R in PFIC1. 1 Publication1
Natural variantiVAR_043071853F → S in PFIC1. 1 PublicationCorresponds to variant rs773092889dbSNPEnsembl.1
Natural variantiVAR_008813892G → R in PFIC1 and BRIC1. 2 PublicationsCorresponds to variant rs121909098dbSNPEnsembl.1
Natural variantiVAR_0710461012S → I in PFIC1. 1 Publication1
Natural variantiVAR_0430731040G → R in PFIC1; greatly reduces interaction with TMEM30A. 2 Publications1
Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)3 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 rs34719006dbSNPEnsembl.1
Natural variantiVAR_043049308G → D in BRIC1. 1 PublicationCorresponds to variant rs28939685dbSNPEnsembl.1
Natural variantiVAR_043050344I → F in BRIC1. 1 PublicationCorresponds to variant rs140665115dbSNPEnsembl.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 Publication1
Natural variantiVAR_043064600R → W in BRIC1. 1 Publication1
Natural variantiVAR_043065628R → W in BRIC1. 1 PublicationCorresponds to variant rs752045131dbSNPEnsembl.1
Natural variantiVAR_008812661I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 4 PublicationsCorresponds to variant rs28939686dbSNPEnsembl.1
Natural variantiVAR_043068694I → T in BRIC1. 1 PublicationCorresponds to variant rs541474497dbSNPEnsembl.1
Natural variantiVAR_008814795 – 797Missing in BRIC1. 1 Publication3
Natural variantiVAR_008813892G → R in PFIC1 and BRIC1. 2 PublicationsCorresponds to variant rs121909098dbSNPEnsembl.1
Cholestasis of pregnancy, intrahepatic 1 (ICP1)2 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 rs146599962dbSNPEnsembl.1
Natural variantiVAR_043047203K → E in ICP1. 1 PublicationCorresponds to variant rs56355310dbSNPEnsembl.1
Natural variantiVAR_043072867R → C in ICP1; reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant rs121909103dbSNPEnsembl.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.
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

MaxQBiO43520.
PaxDbiO43520.
PeptideAtlasiO43520.
PRIDEiO43520.

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.
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. 2 interactors.
IntActiO43520. 2 interactors.
STRINGi9606.ENSP00000283684.

Structurei

3D structure databases

ProteinModelPortaliO43520.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410ITKD. Eukaryota.
ENOG410XPYK. LUCA.
GeneTreeiENSGT00860000133706.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiO43520.
KOiK01530.
OMAiPVQESFF.
OrthoDBiEOG091G0139.
PhylomeDBiO43520.
TreeFamiTF300654.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR030346. ATP8B1.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006539. P-type_ATPase_IV.
IPR032631. P-type_ATPase_N.
IPR001757. P_typ_ATPase.
IPR032630. P_typ_ATPase_c.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 2 hits.
PTHR24092:SF48. PTHR24092:SF48. 2 hits.
PfamiPF00122. E1-E2_ATPase. 1 hit.
PF16212. PhoLip_ATPase_C. 1 hit.
PF16209. PhoLip_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsiTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 1 hit.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 rs146599962dbSNPEnsembl.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 rs34719006dbSNPEnsembl.1
Natural variantiVAR_02927178H → Q.Corresponds to variant rs3745079dbSNPEnsembl.1
Natural variantiVAR_043046127L → P in PFIC1. 1 Publication1
Natural variantiVAR_043047203K → E in ICP1. 1 PublicationCorresponds to variant rs56355310dbSNPEnsembl.1
Natural variantiVAR_071045209P → T in PFIC1. 1 PublicationCorresponds to variant rs515726138dbSNPEnsembl.1
Natural variantiVAR_008809288L → S in PFIC1. 1 PublicationCorresponds to variant rs121909099dbSNPEnsembl.1
Natural variantiVAR_043048305F → I.1 PublicationCorresponds to variant rs150860808dbSNPEnsembl.1
Natural variantiVAR_043049308G → D in BRIC1. 1 PublicationCorresponds to variant rs28939685dbSNPEnsembl.1
Natural variantiVAR_008810308G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 PublicationsCorresponds to variant rs28939685dbSNPEnsembl.1
Natural variantiVAR_043050344I → F in BRIC1. 1 PublicationCorresponds to variant rs140665115dbSNPEnsembl.1
Natural variantiVAR_043051384R → H.Corresponds to variant rs2271260dbSNPEnsembl.1
Natural variantiVAR_043052393I → V.Corresponds to variant rs34315917dbSNPEnsembl.1
Natural variantiVAR_043053403S → Y in PFIC1. 1 Publication1
Natural variantiVAR_043054412R → P in PFIC1. 1 Publication1
Natural variantiVAR_043055429E → A.1 PublicationCorresponds to variant rs34018205dbSNPEnsembl.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 rs121909104dbSNPEnsembl.1
Natural variantiVAR_043059500Y → H in PFIC1. 1 PublicationCorresponds to variant rs147642236dbSNPEnsembl.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 rs121909101dbSNPEnsembl.1
Natural variantiVAR_029272577I → V.Corresponds to variant rs3745078dbSNPEnsembl.1
Natural variantiVAR_043062580S → N.Corresponds to variant rs33963153dbSNPEnsembl.1
Natural variantiVAR_043063600R → Q in BRIC1; compound heterozygote with N-70. 1 Publication1
Natural variantiVAR_043064600R → W in BRIC1. 1 Publication1
Natural variantiVAR_043065628R → W in BRIC1. 1 PublicationCorresponds to variant rs752045131dbSNPEnsembl.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 rs28939686dbSNPEnsembl.1
Natural variantiVAR_043066674M → T.Corresponds to variant rs35470719dbSNPEnsembl.1
Natural variantiVAR_043067688D → G in PFIC1. 1 Publication1
Natural variantiVAR_043068694I → T in BRIC1. 1 PublicationCorresponds to variant rs541474497dbSNPEnsembl.1
Natural variantiVAR_043069733G → R in PFIC1. 1 Publication1
Natural variantiVAR_008814795 – 797Missing in BRIC1. 1 Publication3
Natural variantiVAR_043070814K → N.Corresponds to variant rs34018300dbSNPEnsembl.1
Natural variantiVAR_043071853F → S in PFIC1. 1 PublicationCorresponds to variant rs773092889dbSNPEnsembl.1
Natural variantiVAR_043072867R → C in ICP1; reduces interaction with TMEM30A. 2 PublicationsCorresponds to variant rs121909103dbSNPEnsembl.1
Natural variantiVAR_036499886A → V in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs767398921dbSNPEnsembl.1
Natural variantiVAR_008813892G → R in PFIC1 and BRIC1. 2 PublicationsCorresponds to variant rs121909098dbSNPEnsembl.1
Natural variantiVAR_029273952R → Q.2 PublicationsCorresponds to variant rs12968116dbSNPEnsembl.1
Natural variantiVAR_0710461012S → I in PFIC1. 1 Publication1
Natural variantiVAR_0430731040G → R in PFIC1; greatly reduces interaction with TMEM30A. 2 Publications1
Natural variantiVAR_0550451152A → T.2 PublicationsCorresponds to variant rs222581dbSNPEnsembl.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

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. 2 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

MaxQBiO43520.
PaxDbiO43520.
PeptideAtlasiO43520.
PRIDEiO43520.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5205.
DisGeNETi5205.
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.
GeneTreeiENSGT00860000133706.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiO43520.
KOiK01530.
OMAiPVQESFF.
OrthoDBiEOG091G0139.
PhylomeDBiO43520.
TreeFamiTF300654.

Enzyme and pathway databases

BioCyciZFISH:HS01408-MONOMER.
BRENDAi3.6.3.1. 2681.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

GeneWikiiATP8B1.
GenomeRNAii5205.
PROiO43520.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000081923.
CleanExiHS_ATP8B1.
ExpressionAtlasiO43520. baseline and differential.
GenevisibleiO43520. HS.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR030346. ATP8B1.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006539. P-type_ATPase_IV.
IPR032631. P-type_ATPase_N.
IPR001757. P_typ_ATPase.
IPR032630. P_typ_ATPase_c.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 2 hits.
PTHR24092:SF48. PTHR24092:SF48. 2 hits.
PfamiPF00122. E1-E2_ATPase. 1 hit.
PF16212. PhoLip_ATPase_C. 1 hit.
PF16209. PhoLip_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsiTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 1 hit.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT8B1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 171 of the entry and version 3 of the sequence. [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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.