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O43520

- AT8B1_HUMAN

UniProt

O43520 - AT8B1_HUMAN

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Protein

Phospholipid-transporting ATPase IC

Gene

ATP8B1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei454 – 45414-aspartylphosphate intermediateBy similarity
Metal bindingi893 – 8931MagnesiumBy similarity
Metal bindingi897 – 8971MagnesiumBy similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. cardiolipin binding Source: Ensembl
  3. cation-transporting ATPase activity Source: InterPro
  4. magnesium ion binding Source: InterPro
  5. phospholipid-translocating ATPase activity Source: UniProtKB

GO - Biological processi

  1. bile acid and bile salt transport Source: UniProtKB
  2. bile acid metabolic process Source: Ensembl
  3. drug transmembrane transport Source: UniProtKB
  4. inner ear receptor cell development Source: Ensembl
  5. ion transmembrane transport Source: Reactome
  6. negative regulation of transcription, DNA-templated Source: UniProtKB
  7. phospholipid translocation Source: UniProtKB
  8. regulation of microvillus assembly Source: UniProtKB
  9. sensory perception of sound Source: UniProtKB-KW
  10. transmembrane transport Source: Reactome
  11. 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

ReactomeiREACT_25149. Ion transport by P-type ATPases.

Protein family/group databases

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

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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:3706. ATP8B1.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Apical cell membrane. Cell projectionstereocilium By similarity. Endoplasmic reticulum. Golgi apparatus
Note: Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B. Localizes to apical membranes in epithelial cells.

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. brush border membrane Source: Ensembl
  3. endoplasmic reticulum Source: UniProtKB
  4. Golgi apparatus Source: UniProtKB
  5. integral component of plasma membrane Source: UniProtKB
  6. plasma membrane Source: UniProtKB
  7. stereocilium Source: Ensembl
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) [MIM:211600]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271L → P in PFIC1. 1 Publication
VAR_043046
Natural varianti209 – 2091P → T in PFIC1. 1 Publication
VAR_071045
Natural varianti288 – 2881L → S in PFIC1. 1 Publication
VAR_008809
Natural varianti308 – 3081G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 1 Publication
Corresponds to variant rs28939685 [ dbSNP | Ensembl ].
VAR_008810
Natural varianti403 – 4031S → Y in PFIC1. 1 Publication
VAR_043053
Natural varianti412 – 4121R → P in PFIC1. 1 Publication
VAR_043054
Natural varianti456 – 4561T → M in PFIC1. 1 Publication
VAR_043058
Natural varianti500 – 5001Y → H in PFIC1. 1 Publication
VAR_043059
Natural varianti529 – 5291Missing in PFIC1. 1 Publication
VAR_043060
Natural varianti535 – 5351H → L in PFIC1. 1 Publication
VAR_043061
Natural varianti554 – 5541D → N in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 Publications
VAR_015423
Natural varianti645 – 69955Missing in PFIC1. 1 Publication
VAR_008811Add
BLAST
Natural varianti661 – 6611I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 3 Publications
Corresponds to variant rs28939686 [ dbSNP | Ensembl ].
VAR_008812
Natural varianti688 – 6881D → G in PFIC1. 1 Publication
VAR_043067
Natural varianti733 – 7331G → R in PFIC1. 1 Publication
VAR_043069
Natural varianti853 – 8531F → S in PFIC1. 1 Publication
VAR_043071
Natural varianti892 – 8921G → R in PFIC1 and BRIC1. 2 Publications
VAR_008813
Natural varianti1012 – 10121S → I in PFIC1. 1 Publication
VAR_071046
Natural varianti1040 – 10401G → R in PFIC1; greatly reduces interaction with TMEM30A. 1 Publication
VAR_043073
Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:0009001]: A 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti70 – 701D → N in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; reduces interaction with TMEM30A. 2 Publications
Corresponds to variant rs34719006 [ dbSNP | Ensembl ].
VAR_043045
Natural varianti308 – 3081G → D in BRIC1. 1 Publication
Corresponds to variant rs28939685 [ dbSNP | Ensembl ].
VAR_043049
Natural varianti344 – 3441I → F in BRIC1. 1 Publication
VAR_043050
Natural varianti453 – 4531S → Y in BRIC1. 1 Publication
VAR_043056
Natural varianti454 – 4541D → G in BRIC1. 1 Publication
VAR_043057
Natural varianti600 – 6001R → Q in BRIC1; compound heterozygote with N-70. 1 Publication
VAR_043063
Natural varianti600 – 6001R → W in BRIC1. 1 Publication
VAR_043064
Natural varianti628 – 6281R → W in BRIC1. 1 Publication
VAR_043065
Natural varianti661 – 6611I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 3 Publications
Corresponds to variant rs28939686 [ dbSNP | Ensembl ].
VAR_008812
Natural varianti694 – 6941I → T in BRIC1. 1 Publication
VAR_043068
Natural varianti795 – 7973Missing in BRIC1. 1 Publication
VAR_008814
Natural varianti892 – 8921G → R in PFIC1 and BRIC1. 2 Publications
VAR_008813
Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]: A 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.2 Publications
Note: The disease may be caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451N → T in ICP1. 1 Publication
Corresponds to variant rs146599962 [ dbSNP | Ensembl ].
VAR_043044
Natural varianti203 – 2031K → E in ICP1. 1 Publication
Corresponds to variant rs56355310 [ dbSNP | Ensembl ].
VAR_043047
Natural varianti867 – 8671R → C in ICP1; reduces interaction with TMEM30A. 1 Publication
VAR_043072

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi454 – 4541D → A: Greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 1 Publication

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

MIMi147480. phenotype.
211600. phenotype.
243300. phenotype.
Orphaneti99960. Benign recurrent intrahepatic cholestasis type 1.
69665. Intrahepatic cholestasis of pregnancy.
79306. Progressive familial intrahepatic cholestasis type 1.
PharmGKBiPA265.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12511251Phospholipid-transporting ATPase ICPRO_0000046364Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1223 – 12231PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43520.
PaxDbiO43520.
PRIDEiO43520.

PTM databases

PhosphoSiteiO43520.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO43520.
CleanExiHS_ATP8B1.
ExpressionAtlasiO43520. baseline and differential.
GenevestigatoriO43520.

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.4 PublicationsCurated

Binary interactionsi

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

Protein-protein interaction databases

BioGridi111227. 2 interactions.
IntActiO43520. 2 interactions.
STRINGi9606.ENSP00000283684.

Structurei

3D structure databases

ProteinModelPortaliO43520.
SMRiO43520. Positions 434-784, 867-927.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 108108CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini131 – 1366Exoplasmic loopSequence Analysis
Topological domaini157 – 340184CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini363 – 38927Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini412 – 949538CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini971 – 98212Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini1003 – 103230CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1055 – 106814Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini1092 – 10976CytoplasmicSequence Analysis
Topological domaini1119 – 113820Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini1164 – 125188CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei109 – 13022HelicalSequence AnalysisAdd
BLAST
Transmembranei137 – 15620HelicalSequence AnalysisAdd
BLAST
Transmembranei341 – 36222HelicalSequence AnalysisAdd
BLAST
Transmembranei390 – 41122HelicalSequence AnalysisAdd
BLAST
Transmembranei950 – 97021HelicalSequence AnalysisAdd
BLAST
Transmembranei983 – 100220HelicalSequence AnalysisAdd
BLAST
Transmembranei1033 – 105422HelicalSequence AnalysisAdd
BLAST
Transmembranei1069 – 109123HelicalSequence AnalysisAdd
BLAST
Transmembranei1098 – 111821HelicalSequence AnalysisAdd
BLAST
Transmembranei1139 – 116325HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0474.
GeneTreeiENSGT00760000119264.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiO43520.
KOiK01530.
OMAiHSKIEPV.
OrthoDBiEOG7RRF68.
PhylomeDBiO43520.
TreeFamiTF300654.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR006539. ATPase_P-typ_Plipid-transp.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 1 hit.
PfamiPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
PRINTSiPR00119. CATATPASE.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1016 – 10161P → L in AAH03534. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451N → T in ICP1. 1 Publication
Corresponds to variant rs146599962 [ dbSNP | Ensembl ].
VAR_043044
Natural varianti70 – 701D → N in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; reduces interaction with TMEM30A. 2 Publications
Corresponds to variant rs34719006 [ dbSNP | Ensembl ].
VAR_043045
Natural varianti78 – 781H → Q.
Corresponds to variant rs3745079 [ dbSNP | Ensembl ].
VAR_029271
Natural varianti127 – 1271L → P in PFIC1. 1 Publication
VAR_043046
Natural varianti203 – 2031K → E in ICP1. 1 Publication
Corresponds to variant rs56355310 [ dbSNP | Ensembl ].
VAR_043047
Natural varianti209 – 2091P → T in PFIC1. 1 Publication
VAR_071045
Natural varianti288 – 2881L → S in PFIC1. 1 Publication
VAR_008809
Natural varianti305 – 3051F → I.1 Publication
Corresponds to variant rs150860808 [ dbSNP | Ensembl ].
VAR_043048
Natural varianti308 – 3081G → D in BRIC1. 1 Publication
Corresponds to variant rs28939685 [ dbSNP | Ensembl ].
VAR_043049
Natural varianti308 – 3081G → V in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 1 Publication
Corresponds to variant rs28939685 [ dbSNP | Ensembl ].
VAR_008810
Natural varianti344 – 3441I → F in BRIC1. 1 Publication
VAR_043050
Natural varianti384 – 3841R → H.
Corresponds to variant rs2271260 [ dbSNP | Ensembl ].
VAR_043051
Natural varianti393 – 3931I → V.
Corresponds to variant rs34315917 [ dbSNP | Ensembl ].
VAR_043052
Natural varianti403 – 4031S → Y in PFIC1. 1 Publication
VAR_043053
Natural varianti412 – 4121R → P in PFIC1. 1 Publication
VAR_043054
Natural varianti429 – 4291E → A.1 Publication
Corresponds to variant rs34018205 [ dbSNP | Ensembl ].
VAR_043055
Natural varianti453 – 4531S → Y in BRIC1. 1 Publication
VAR_043056
Natural varianti454 – 4541D → G in BRIC1. 1 Publication
VAR_043057
Natural varianti456 – 4561T → M in PFIC1. 1 Publication
VAR_043058
Natural varianti500 – 5001Y → H in PFIC1. 1 Publication
VAR_043059
Natural varianti529 – 5291Missing in PFIC1. 1 Publication
VAR_043060
Natural varianti535 – 5351H → L in PFIC1. 1 Publication
VAR_043061
Natural varianti554 – 5541D → N in PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A. 2 Publications
VAR_015423
Natural varianti577 – 5771I → V.
Corresponds to variant rs3745078 [ dbSNP | Ensembl ].
VAR_029272
Natural varianti580 – 5801S → N.
Corresponds to variant rs33963153 [ dbSNP | Ensembl ].
VAR_043062
Natural varianti600 – 6001R → Q in BRIC1; compound heterozygote with N-70. 1 Publication
VAR_043063
Natural varianti600 – 6001R → W in BRIC1. 1 Publication
VAR_043064
Natural varianti628 – 6281R → W in BRIC1. 1 Publication
VAR_043065
Natural varianti645 – 69955Missing in PFIC1. 1 Publication
VAR_008811Add
BLAST
Natural varianti661 – 6611I → T in BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. 3 Publications
Corresponds to variant rs28939686 [ dbSNP | Ensembl ].
VAR_008812
Natural varianti674 – 6741M → T.
Corresponds to variant rs35470719 [ dbSNP | Ensembl ].
VAR_043066
Natural varianti688 – 6881D → G in PFIC1. 1 Publication
VAR_043067
Natural varianti694 – 6941I → T in BRIC1. 1 Publication
VAR_043068
Natural varianti733 – 7331G → R in PFIC1. 1 Publication
VAR_043069
Natural varianti795 – 7973Missing in BRIC1. 1 Publication
VAR_008814
Natural varianti814 – 8141K → N.
Corresponds to variant rs34018300 [ dbSNP | Ensembl ].
VAR_043070
Natural varianti853 – 8531F → S in PFIC1. 1 Publication
VAR_043071
Natural varianti867 – 8671R → C in ICP1; reduces interaction with TMEM30A. 1 Publication
VAR_043072
Natural varianti886 – 8861A → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_036499
Natural varianti892 – 8921G → R in PFIC1 and BRIC1. 2 Publications
VAR_008813
Natural varianti952 – 9521R → Q.2 Publications
Corresponds to variant rs12968116 [ dbSNP | Ensembl ].
VAR_029273
Natural varianti1012 – 10121S → I in PFIC1. 1 Publication
VAR_071046
Natural varianti1040 – 10401G → R in PFIC1; greatly reduces interaction with TMEM30A. 1 Publication
VAR_043073
Natural varianti1152 – 11521A → T.2 Publications
Corresponds to variant rs222581 [ dbSNP | Ensembl ].
VAR_055045
Natural varianti1178 – 11781I → M in a breast cancer sample; somatic mutation. 1 Publication
VAR_036500

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006722481.1.
UniGeneiHs.216623.

Genome annotation databases

EnsembliENST00000283684; ENSP00000283684; ENSG00000081923.
ENST00000536015; ENSP00000445359; ENSG00000081923.
GeneIDi5205.
KEGGihsa:5205.
UCSCiuc002lgw.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006722481.1.
UniGenei Hs.216623.

3D structure databases

ProteinModelPortali O43520.
SMRi O43520. Positions 434-784, 867-927.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111227. 2 interactions.
IntActi O43520. 2 interactions.
STRINGi 9606.ENSP00000283684.

Protein family/group databases

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

PTM databases

PhosphoSitei O43520.

Proteomic databases

MaxQBi O43520.
PaxDbi O43520.
PRIDEi O43520.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000283684 ; ENSP00000283684 ; ENSG00000081923 .
ENST00000536015 ; ENSP00000445359 ; ENSG00000081923 .
GeneIDi 5205.
KEGGi hsa:5205.
UCSCi uc002lgw.3. human.

Organism-specific databases

CTDi 5205.
GeneCardsi GC18M055313.
GeneReviewsi ATP8B1.
HGNCi HGNC:3706. ATP8B1.
HPAi HPA018673.
HPA018674.
MIMi 147480. phenotype.
211600. phenotype.
243300. phenotype.
602397. gene.
neXtProti NX_O43520.
Orphaneti 99960. Benign recurrent intrahepatic cholestasis type 1.
69665. Intrahepatic cholestasis of pregnancy.
79306. Progressive familial intrahepatic cholestasis type 1.
PharmGKBi PA265.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0474.
GeneTreei ENSGT00760000119264.
HOGENOMi HOG000202528.
HOVERGENi HBG050601.
InParanoidi O43520.
KOi K01530.
OMAi HSKIEPV.
OrthoDBi EOG7RRF68.
PhylomeDBi O43520.
TreeFami TF300654.

Enzyme and pathway databases

Reactomei REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

GeneWikii ATP8B1.
GenomeRNAii 5205.
NextBioi 20132.
PROi O43520.
SOURCEi Search...

Gene expression databases

Bgeei O43520.
CleanExi HS_ATP8B1.
ExpressionAtlasi O43520. baseline and differential.
Genevestigatori O43520.

Family and domain databases

Gene3Di 2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProi IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR006539. ATPase_P-typ_Plipid-transp.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view ]
PANTHERi PTHR24092. PTHR24092. 1 hit.
Pfami PF00122. E1-E2_ATPase. 1 hit.
[Graphical view ]
PRINTSi PR00119. CATATPASE.
SUPFAMi SSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsi TIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 1 hit.
PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PFIC1 SER-288; VAL-308; 645-ILE--ILE-699 DEL AND ARG-892, VARIANTS BRIC1 THR-661 AND 795-GLY--ARG-797 DEL, VARIANT THR-1152.
    Tissue: Intestine and Liver.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs."
    Halleck M.S., Pradhan D., Blackman C.F., Berkes C., Williamson P.L., Schlegel R.A.
    Genome Res. 8:354-361(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 388-661.
    Tissue: Colon tumor.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 359-1251, VARIANT THR-1152.
    Tissue: Uterus.
  5. "ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity."
    Paulusma C.C., Folmer D.E., Ho-Mok K.S., de Waart D.R., Hilarius P.M., Verhoeven A.J., Oude Elferink R.P.
    Hepatology 47:268-278(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION.
  6. "CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells."
    Munoz-Martinez F., Torres C., Castanys S., Gamarro F.
    Biochem. Pharmacol. 80:793-800(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  7. "A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells."
    Verhulst P.M., van der Velden L.M., Oorschot V., van Faassen E.E., Klumperman J., Houwen R.H., Pomorski T.G., Holthuis J.C., Klomp L.W.
    Hepatology 51:2049-2060(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  8. "Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases."
    van der Velden L.M., Wichers C.G., van Breevoort A.E., Coleman J.A., Molday R.S., Berger R., Klomp L.W., van de Graaf S.F.
    J. Biol. Chem. 285:40088-40096(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TMEM30A AND TMEM30B, SUBCELLULAR LOCATION.
  9. "CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery."
    Bryde S., Hennrich H., Verhulst P.M., Devaux P.F., Lenoir G., Holthuis J.C.
    J. Biol. Chem. 285:40562-40572(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TMEM30A AND TMEM30B, SUBCELLULAR LOCATION.
  10. "ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner."
    Takatsu H., Baba K., Shima T., Umino H., Kato U., Umeda M., Nakayama K., Shin H.W.
    J. Biol. Chem. 286:38159-38167(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TMEM30A AND TMEM30B, SUBCELLULAR LOCATION.
  11. "Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity."
    Tygstrup N., Steig B.A., Juijn J.A., Bull L.N., Houwen R.H.J.
    Hepatology 29:506-508(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BRIC1 THR-661.
  12. Cited for: VARIANT PFIC1 ASN-554.
  13. Cited for: VARIANTS PFIC1 PRO-127; TYR-403; PRO-412; MET-456; HIS-500; PHE-529 DEL; LEU-535; ASN-554; THR-661; GLY-688; ARG-733; SER-853; ARG-892 AND ARG-1040, VARIANTS BRIC1 ASN-70; ASP-308; PHE-344; TYR-453; GLY-454; TRP-600; GLN-600; TRP-628; THR-661; THR-694 AND ARG-892, VARIANT ALA-429.
  14. "Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy."
    Painter J.N., Savander M., Ropponen A., Nupponen N., Riikonen S., Ylikorkala O., Lehesjoki A.E., Aittomaki K.
    Eur. J. Hum. Genet. 13:435-439(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ICP1 THR-45 AND GLU-203, VARIANT GLN-952.
  15. "ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy."
    Muellenbach R., Bennett A., Tetlow N., Patel N., Hamilton G., Cheng F., Chambers J., Howard R., Taylor-Robinson S.D., Williamson C.
    Gut 54:829-834(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ICP1 CYS-867, VARIANTS ASN-70; ILE-305 AND GLN-952.
  16. Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-886 AND MET-1178.
  17. "Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1."
    Folmer D.E., van der Mark V.A., Ho-Mok K.S., Oude Elferink R.P., Paulusma C.C.
    Hepatology 50:1597-1605(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS PFIC1 VAL-308; ASN-554; THR-661 AND ARG-1040, CHARACTERIZATION OF VARIANTS BRIC1 ASN-70 AND THR-661, CHARACTERIZATION OF VARIANT ICP1 CYS-867, MUTAGENESIS OF ASP-454.
  18. "Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT."
    Liu L.Y., Wang X.H., Wang Z.L., Zhu Q.R., Wang J.S.
    J. Pediatr. Gastroenterol. Nutr. 50:179-183(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PFIC1 THR-209.
  19. "Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis."
    Deng B.C., Lv S., Cui W., Zhao R., Lu X., Wu J., Liu P.
    World J. Gastroenterol. 18:6504-6509(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PFIC1 ILE-1012.

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: October 29, 2014
This is version 150 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

External Data

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