UniProtKB - O43520 (AT8B1_HUMAN)

BLAST

>sp|O43520|AT8B1_HUMAN Phospholipid-transporting ATPase IC OS=Homo sapiens OX=9606 GN=ATP8B1 PE=1 SV=3
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRK
ECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAA
NLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFK
MSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVI
RNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHA
YWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFIN
WDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHR
DASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVD
RTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDR
KRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKE
IEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISK
LAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYA
KFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKR
RLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNM
IKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFA
FTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYI
VGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASAL
VITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNAL
RQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRR
GVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS

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History
Entry version 186 (12 Sep 2018)
Sequence version 3 (05 May 2009)
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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 key	Position(s)	DescriptionActions	Length
Active siteⁱ	454	4-aspartylphosphate intermediateBy similarity	1
Metal bindingⁱ	893	MagnesiumBy similarity	1
Metal bindingⁱ	897	MagnesiumBy similarity	1

GO - Molecular functionⁱ

aminophospholipid transmembrane transporter activity Source: Ensembl
ATP binding Source: UniProtKB-KW
cardiolipin binding Source: Ensembl
magnesium ion binding Source: InterPro
phospholipid-translocating ATPase activity
Source: UniProtKB
Traceable author statementⁱ
- 12880872

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

bile acid and bile salt transport
Source: UniProtKB
Non-traceable author statementⁱ
- 12880872
bile acid metabolic process Source: Ensembl
drug transmembrane transport
Source: UniProtKB
Inferred from direct assayⁱ
- 20510206
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
Inferred from mutant phenotypeⁱ
- 16628629
phospholipid translocation
Source: UniProtKB
Inferred from direct assayⁱ
- 20510206
regulation of microvillus assembly
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 20512993
sensory perception of sound Source: UniProtKB-KW
vestibulocochlear nerve formation Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Hydrolase
Biological process	Hearing, Lipid transport, Transport
Ligand	ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAⁱ	3.6.3.1 2681
Reactomeⁱ	R-HSA-936837 Ion transport by P-type ATPases

Protein family/group databases

TCDBⁱ	3.A.3.8.11 the p-type atpase (p-atpase) superfamily

TCDBⁱ

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

Chemistry databases

SwissLipidsⁱ	SLP:000000342

SwissLipidsⁱ

SLP: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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 18

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000081923.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3706 ATP8B1
MIMⁱ	602397 gene
neXtProtⁱ	NX_O43520

Topology

Feature key	Position(s)	DescriptionActions	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, 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_043046	127	L → P in PFIC1. 1 Publication	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_043067	688	D → G in PFIC1. 1 Publication	1
Natural variantⁱVAR_043069	733	G → R in PFIC1. 1 Publication	1
Natural variantⁱVAR_043071	853	F → S in PFIC1. 1 PublicationCorresponds to variant dbSNP:rs773092889Ensembl.	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 Publications	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.

Feature key	Position(s)	DescriptionActions	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. 3 PublicationsCorresponds to variant dbSNP:rs34719006EnsemblClinVar.	1
Natural variantⁱVAR_043049	308	G → D in BRIC1. 1 Publication	1
Natural variantⁱVAR_043050	344	I → F in BRIC1. 1 PublicationCorresponds 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 Publication	1
Natural variantⁱVAR_043064	600	R → W in BRIC1. 1 Publication	1
Natural variantⁱVAR_043065	628	R → W in BRIC1. 1 PublicationCorresponds to variant dbSNP:rs752045131Ensembl.	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

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.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	454	D → A: Greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	5205
GeneReviewsⁱ	ATP8B1
MalaCards human disease database More...MalaCardsⁱ	ATP8B1
MIMⁱ	147480 phenotype 211600 phenotype 243300 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000081923
Orphanetⁱ	99960 Benign recurrent intrahepatic cholestasis type 1 69665 Intrahepatic cholestasis of pregnancy 79306 Progressive familial intrahepatic cholestasis type 1
PharmGKBⁱ	PA265

Polymorphism and mutation databases

BioMutaⁱ	ATP8B1

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

Phosphoprotein

Proteomic databases

EPDⁱ	O43520
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O43520
PaxDbⁱ	O43520
PeptideAtlas More...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 239 organ(s), highest expression level in cerebellar vermis
CleanExⁱ	HS_ATP8B1
ExpressionAtlasⁱ	O43520 baseline and differential
Genevisibleⁱ	O43520 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA018673 HPA018674

HPAⁱ

HPA018673
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

With	Entry	#Exp.	IntAct	Notes
TMEM30A	Q9NV96	3	EBI-9524729,EBI-2836942

With

Entry

#Exp.

IntAct

Notes

TMEM30A

Q9NV96

EBI-9524729,EBI-2836942

Protein-protein interaction databases

BioGridⁱ	111227, 3 interactors
IntActⁱ	O43520, 2 interactors
STRINGⁱ	9606.ENSP00000283684

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O43520
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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

eggNOGⁱ	ENOG410ITKD Eukaryota ENOG410XPYK LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144008
HOGENOMⁱ	HOG000202528
HOVERGENⁱ	HBG050601
InParanoidⁱ	O43520
KEGG Orthology (KO) More...KOⁱ	K01530
OMAⁱ	ARTQNTI
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0139
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
PANTHERⁱ	PTHR24092 PTHR24092, 1 hit PTHR24092:SF48 PTHR24092:SF48, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF16212 PhoLip_ATPase_C, 1 hit PF16209 PhoLip_ATPase_N, 1 hit
SUPFAMⁱ	SSF56784 SSF56784, 3 hits SSF81653 SSF81653, 2 hits SSF81660 SSF81660, 2 hits SSF81665 SSF81665, 3 hits
TIGRFAMsⁱ	TIGR01652 ATPase-Plipid, 1 hit TIGR01494 ATPase_P-type, 1 hit
PROSITEⁱ	View 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.ⁱShow all

O43520-1 [UniParc]FASTA Add to basket

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        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

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation
A0A2R8Y5C5	A0A2R8Y5C5_HUMAN	Phospholipid-transporting ATPase Phospholipid-transporting ATPase, EC 3.6.3.1	ATP8B1	946	Annotation score:
K7ERI0	K7ERI0_HUMAN	Phospholipid-transporting ATPase IC Phospholipid-transporting ATPase IC	ATP8B1	92	Annotation score:
K7EQC4	K7EQC4_HUMAN	Phospholipid-transporting ATPase IC Phospholipid-transporting ATPase IC	ATP8B1	61	Annotation score:
K7ESK2	K7ESK2_HUMAN	Phospholipid-transporting ATPase IC 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	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. 3 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. 1 Publication	1
Natural variantⁱVAR_043047	203	K → E in ICP1. 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 Publication	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. 1 PublicationCorresponds 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 Publication	1
Natural variantⁱVAR_043064	600	R → W in BRIC1. 1 Publication	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 Publication	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 Publication	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 Publications	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11965.1
NCBI Reference Sequences More...RefSeqⁱ	NP_005594.1, NM_005603.4 XP_006722544.1, XM_006722481.3 XP_011524324.1, XM_011526022.2
UniGeneⁱ	Hs.216623

Genome annotation databases

Ensemblⁱ	ENST00000283684; ENSP00000283684; ENSG00000081923
GeneIDⁱ	5205
KEGGⁱ	hsa:5205
UCSC genome browser More...UCSCⁱ	uc002lgw.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O43520	Phospholipid-transporting ATPase IC		HUMAN		61	UniRef100_O43520
ATP8B1 isoform 1		PANTR		61

Protein	Similar proteins		Species	Score	Length	Source
O43520	Phospholipid-transporting ATPase IC		MOUSE		1251	UniRef90_O43520
Phospholipid-transporting ATPase IC		HUMAN		61
ATP8B1 isoform 1		PANTR		61
Phospholipid-transporting ATPase		FUKDA		1310
Phospholipid-transporting ATPase		HETGA		1257
+60

Protein	Similar proteins		Species	Score	Length	Source
O43520	Phospholipid-transporting ATPase IC		MOUSE		1251	UniRef50_O43520
Phospholipid-transporting ATPase IC		XENTR		1250
Phospholipid-transporting ATPase IC		HUMAN		61
ATP8B1 isoform 1		PANTR		61
Phospholipid-transporting ATPase		FUKDA		1310
+151

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
UniGeneⁱ	Hs.216623

3D structure databases

ProteinModelPortalⁱ	O43520
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	111227, 3 interactors
IntActⁱ	O43520, 2 interactors
STRINGⁱ	9606.ENSP00000283684

Chemistry databases

SwissLipidsⁱ	SLP:000000342

SwissLipidsⁱ

SLP:000000342

Protein family/group databases

TCDBⁱ	3.A.3.8.11 the p-type atpase (p-atpase) superfamily

TCDBⁱ

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

PTM databases

iPTMnetⁱ	O43520
PhosphoSitePlusⁱ	O43520

Polymorphism and mutation databases

BioMutaⁱ	ATP8B1

BioMutaⁱ

ATP8B1

Proteomic databases

EPDⁱ	O43520
MaxQBⁱ	O43520
PaxDbⁱ	O43520
PeptideAtlasⁱ	O43520
PRIDEⁱ	O43520
ProteomicsDBⁱ	49008

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000283684; ENSP00000283684; ENSG00000081923
GeneIDⁱ	5205
KEGGⁱ	hsa:5205
UCSCⁱ	uc002lgw.5 human

Organism-specific databases

CTDⁱ	5205
DisGeNETⁱ	5205
EuPathDBⁱ	HostDB:ENSG00000081923.10
GeneCardsⁱ	ATP8B1
GeneReviewsⁱ	ATP8B1
HGNCⁱ	HGNC:3706 ATP8B1
HPAⁱ	HPA018673 HPA018674
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410ITKD Eukaryota ENOG410XPYK LUCA
GeneTreeⁱ	ENSGT00910000144008
HOGENOMⁱ	HOG000202528
HOVERGENⁱ	HBG050601
InParanoidⁱ	O43520
KOⁱ	K01530
OMAⁱ	ARTQNTI
OrthoDBⁱ	EOG091G0139
PhylomeDBⁱ	O43520
TreeFamⁱ	TF300654

Enzyme and pathway databases

BRENDAⁱ	3.6.3.1 2681
Reactomeⁱ	R-HSA-936837 Ion transport by P-type ATPases

Miscellaneous databases

ChiTaRSⁱ	ATP8B1 human
GeneWikiⁱ	ATP8B1
GenomeRNAiⁱ	5205
Protein Ontology More...PROⁱ	PR:O43520
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000081923 Expressed in 239 organ(s), highest expression level in cerebellar vermis
CleanExⁱ	HS_ATP8B1
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
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
SUPFAMⁱ	SSF56784 SSF56784, 3 hits SSF81653 SSF81653, 2 hits SSF81660 SSF81660, 2 hits SSF81665 SSF81665, 3 hits
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...

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:	September 12, 2018
	This is version 186 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

Complete proteome, Reference proteome

UniProtKB

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Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - O43520 (AT8B1_HUMAN)

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Phospholipid-transporting ATPase IC

ATP8B1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

Chemistry databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Plasma membrane

Golgi apparatus

Other locations

Endoplasmic reticulum

Golgi apparatus

Plasma Membrane

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ