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Protein

Phospholipid-transporting ATPase IK

Gene

ATP8B3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

P4-ATPase flippase 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 be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida.By similarity

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei4954-aspartylphosphate intermediateBy similarity1
Metal bindingi939MagnesiumBy similarity1
Metal bindingi943MagnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid transport, Transport

Keywords - Ligandi

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

Enzyme and pathway databases

BioCyciZFISH:HS05361-MONOMER.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Names & Taxonomyi

Protein namesi
Recommended name:
Phospholipid-transporting ATPase IK (EC:3.6.3.1)
Alternative name(s):
ATPase class I type 8B member 3
Gene namesi
Name:ATP8B3
Synonyms:ATP1K, FOS37502_2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:13535. ATP8B3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 149CytoplasmicSequence analysisAdd BLAST149
Transmembranei150 – 171HelicalSequence analysisAdd BLAST22
Topological domaini172 – 177Exoplasmic loopSequence analysis6
Transmembranei178 – 197HelicalSequence analysisAdd BLAST20
Topological domaini198 – 381CytoplasmicSequence analysisAdd BLAST184
Transmembranei382 – 403HelicalSequence analysisAdd BLAST22
Topological domaini404 – 430Exoplasmic loopSequence analysisAdd BLAST27
Transmembranei431 – 452HelicalSequence analysisAdd BLAST22
Topological domaini453 – 995CytoplasmicSequence analysisAdd BLAST543
Transmembranei996 – 1016HelicalSequence analysisAdd BLAST21
Topological domaini1017 – 1028Exoplasmic loopSequence analysisAdd BLAST12
Transmembranei1029 – 1048HelicalSequence analysisAdd BLAST20
Topological domaini1049 – 1078CytoplasmicSequence analysisAdd BLAST30
Transmembranei1079 – 1100HelicalSequence analysisAdd BLAST22
Topological domaini1101 – 1112Exoplasmic loopSequence analysisAdd BLAST12
Transmembranei1113 – 1135HelicalSequence analysisAdd BLAST23
Topological domaini1136 – 1141CytoplasmicSequence analysis6
Transmembranei1142 – 1162HelicalSequence analysisAdd BLAST21
Topological domaini1163 – 1182Exoplasmic loopSequence analysisAdd BLAST20
Transmembranei1183 – 1207HelicalSequence analysisAdd BLAST25
Topological domaini1208 – 1300CytoplasmicSequence analysisAdd BLAST93

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi148229.
OpenTargetsiENSG00000130270.
PharmGKBiPA25168.

Polymorphism and mutation databases

BioMutaiATP8B3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000463671 – 1300Phospholipid-transporting ATPase IKAdd BLAST1300

Proteomic databases

PaxDbiO60423.
PeptideAtlasiO60423.
PRIDEiO60423.

PTM databases

iPTMnetiO60423.
PhosphoSitePlusiO60423.

Expressioni

Tissue specificityi

Isoform 3 was only detected in testis.1 Publication

Gene expression databases

BgeeiENSG00000130270.
CleanExiHS_ATP8B3.
ExpressionAtlasiO60423. baseline and differential.
GenevisibleiO60423. HS.

Organism-specific databases

HPAiHPA041992.
HPA043582.

Interactioni

Protein-protein interaction databases

MINTiMINT-4656966.
STRINGi9606.ENSP00000311336.

Structurei

3D structure databases

ProteinModelPortaliO60423.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410ITKD. Eukaryota.
ENOG410XPYK. LUCA.
GeneTreeiENSGT00860000133706.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiO60423.
KOiK01530.
OMAiIKYWTAL.
OrthoDBiEOG091G0139.
PhylomeDBiO60423.
TreeFamiTF300654.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProiIPR030349. ATP8B3.
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:SF78. PTHR24092:SF78. 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]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60423-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGTGPAQTPR STRAGPEPSP APPGPGDTGD SDVTQEGSGP AGIRGGETVI
60 70 80 90 100
RAGMGDSPGR GAPERRHKAQ PGRARKYEWR PEGPTSMGSL GQREDLQDED
110 120 130 140 150
RNSAFTWKVQ ANNRAYNGQF KEKVILCWQR KKYKTNVIRT AKYNFYSFLP
160 170 180 190 200
LNLYEQFHRV SNLFFLIIII LQSIPDISTL PWFSLSTPMV CLLFIRATRD
210 220 230 240 250
LVDDMGRHKS DRAINNRPCQ ILMGKSFKQK KWQDLCVGDV VCLRKDNIVP
260 270 280 290 300
ADMLLLASTE PSSLCYVETV DIDGETNLKF RQALMVTHKE LATIKKMASF
310 320 330 340 350
QGTVTCEAPN SRMHHFVGCL EWNDKKYSLD IGNLLLRGCR IRNTDTCYGL
360 370 380 390 400
VIYAGFDTKI MKNCGKIHLK RTKLDLLMNK LVVVIFISVV LVCLVLAFGF
410 420 430 440 450
GFSVKEFKDH HYYLSGVHGS SVAAESFFVF WSFLILLSVT IPMSMFILSE
460 470 480 490 500
FIYLGNSVFI DWDVQMYYKP QDVPAKARST SLNDHLGQVE YIFSDKTGTL
510 520 530 540 550
TQNILTFNKC CISGRVYGPD SEATTRPKEN PYLWNKFADG KLLFHNAALL
560 570 580 590 600
HLVRTNGDEA VREFWRLLAI CHTVMVRESP RERPDQLLYQ AASPDEGALV
610 620 630 640 650
TAARNFGYVF LSRTQDTVTI MELGEERVYQ VLAIMDFNST RKRMSVLVRK
660 670 680 690 700
PEGAICLYTK GADTVIFERL HRRGAMEFAT EEALAAFAQE TLRTLCLAYR
710 720 730 740 750
EVAEDIYEDW QQRHQEASLL LQNRAQALQQ LLGATAIEDR LQDGVPETIK
760 770 780 790 800
CLKKSNIKIW VLTGDKQETA VNIGFACELL SENMLILEEK EISRILETYW
810 820 830 840 850
ENSNNLLTRE SLSQVKLALV INGDFLDKLL VSLRKEPRAL AQNVNMDEAW
860 870 880 890 900
QELGQSRRDF LYARRLSLLC RRFGLPLAAP PAQDSRARRS SEVLQERAFV
910 920 930 940 950
DLASKCQAVI CCRVTPKQKA LIVALVKKYH QVVTLAIGDG ANDINMIKTA
960 970 980 990 1000
DVGVGLAGQE GMQAVQNSDF VLGQFCFLQR LLLVHGRWSY VRICKFLRYF
1010 1020 1030 1040 1050
FYKSMASMMV QVWFACYNGF TGQPLYEGWF LALFNLLYST LPVLYIGLFE
1060 1070 1080 1090 1100
QDVSAEQSLE KPELYVVGQK DELFNYWVFV QAIAHGVTTS LVNFFMTLWI
1110 1120 1130 1140 1150
SRDTAGPASF SDHQSFAVVV ALSCLLSITM EVILIIKYWT ALCVATILLS
1160 1170 1180 1190 1200
LGFYAIMTTT TQSFWLFRVS PTTFPFLYAD LSVMSSPSIL LVVLLSVSIN
1210 1220 1230 1240 1250
TFPVLALRVI FPALKELRAK EEKVEEGPSE EIFTMEPLPH VHRESRARRS
1260 1270 1280 1290 1300
SYAFSHREGY ANLITQGTIL RRGPGVSSDI ASESLDPSDE EAASSPKESQ
Length:1,300
Mass (Da):146,752
Last modified:October 5, 2010 - v4
Checksum:i356B1972DD49DFF5
GO
Isoform 2 (identifier: O60423-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     730-730: Q → QVYNEMEQDLR

Note: No experimental confirmation available.
Show »
Length:1,310
Mass (Da):148,031
Checksum:iF1A1C25A8DE696FC
GO
Isoform 3 (identifier: O60423-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: Missing.
     354-354: A → ADGYMFV
     730-730: Q → QVYNEMEQDLR

Note: No experimental confirmation available.
Show »
Length:1,263
Mass (Da):143,705
Checksum:i246752DB1DAC2E44
GO

Sequence cautioni

The sequence AAC17601 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAB71492 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05554445G → R.Corresponds to variant rs7250872dbSNPEnsembl.1
Natural variantiVAR_055545618V → I.Corresponds to variant rs8100856dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0435541 – 53Missing in isoform 3. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_043555354A → ADGYMFV in isoform 3. 1 Publication1
Alternative sequenceiVSP_039716730Q → QVYNEMEQDLR in isoform 2 and isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY302538 mRNA. Translation: AAQ19028.1.
AC004755 Genomic DNA. Translation: AAC17601.1. Sequence problems.
AC012615 Genomic DNA. No translation available.
CH471139 Genomic DNA. Translation: EAW69455.1.
AK057452 mRNA. Translation: BAB71492.1. Different initiation.
BC035162 mRNA. Translation: AAH35162.3.
CCDSiCCDS45901.1. [O60423-2]
CCDS54196.1. [O60423-3]
RefSeqiNP_001171473.1. NM_001178002.2. [O60423-3]
NP_620168.1. NM_138813.3. [O60423-2]
XP_006722717.1. XM_006722654.2. [O60423-1]
XP_006722718.1. XM_006722655.2. [O60423-1]
UniGeneiHs.306212.

Genome annotation databases

EnsembliENST00000310127; ENSP00000311336; ENSG00000130270. [O60423-2]
ENST00000525591; ENSP00000437115; ENSG00000130270. [O60423-3]
GeneIDi148229.
KEGGihsa:148229.
UCSCiuc002ltv.5. human. [O60423-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY302538 mRNA. Translation: AAQ19028.1.
AC004755 Genomic DNA. Translation: AAC17601.1. Sequence problems.
AC012615 Genomic DNA. No translation available.
CH471139 Genomic DNA. Translation: EAW69455.1.
AK057452 mRNA. Translation: BAB71492.1. Different initiation.
BC035162 mRNA. Translation: AAH35162.3.
CCDSiCCDS45901.1. [O60423-2]
CCDS54196.1. [O60423-3]
RefSeqiNP_001171473.1. NM_001178002.2. [O60423-3]
NP_620168.1. NM_138813.3. [O60423-2]
XP_006722717.1. XM_006722654.2. [O60423-1]
XP_006722718.1. XM_006722655.2. [O60423-1]
UniGeneiHs.306212.

3D structure databases

ProteinModelPortaliO60423.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

MINTiMINT-4656966.
STRINGi9606.ENSP00000311336.

PTM databases

iPTMnetiO60423.
PhosphoSitePlusiO60423.

Polymorphism and mutation databases

BioMutaiATP8B3.

Proteomic databases

PaxDbiO60423.
PeptideAtlasiO60423.
PRIDEiO60423.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310127; ENSP00000311336; ENSG00000130270. [O60423-2]
ENST00000525591; ENSP00000437115; ENSG00000130270. [O60423-3]
GeneIDi148229.
KEGGihsa:148229.
UCSCiuc002ltv.5. human. [O60423-2]

Organism-specific databases

CTDi148229.
DisGeNETi148229.
GeneCardsiATP8B3.
H-InvDBHIX0202756.
HGNCiHGNC:13535. ATP8B3.
HPAiHPA041992.
HPA043582.
MIMi605866. gene.
neXtProtiNX_O60423.
OpenTargetsiENSG00000130270.
PharmGKBiPA25168.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITKD. Eukaryota.
ENOG410XPYK. LUCA.
GeneTreeiENSGT00860000133706.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiO60423.
KOiK01530.
OMAiIKYWTAL.
OrthoDBiEOG091G0139.
PhylomeDBiO60423.
TreeFamiTF300654.

Enzyme and pathway databases

BioCyciZFISH:HS05361-MONOMER.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSiATP8B3. human.
GeneWikiiATP8B3.
GenomeRNAii148229.
PROiO60423.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130270.
CleanExiHS_ATP8B3.
ExpressionAtlasiO60423. baseline and differential.
GenevisibleiO60423. HS.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProiIPR030349. ATP8B3.
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:SF78. PTHR24092:SF78. 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 nameiAT8B3_HUMAN
AccessioniPrimary (citable) accession number: O60423
Secondary accession number(s): Q7Z485
, Q8IVB8, Q8N4Y8, Q96M22
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 159 of the entry and version 4 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

Miscellaneous

Association with flippase complex beta subunits TMEM30A and TMEM30A has not been detected, neither did their coexpression change the localization in ER.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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.