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Protein

Probable phospholipid-transporting ATPase IIB

Gene

ATP9B

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

Functioni

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei4684-aspartylphosphate intermediateBy similarity1
Metal bindingi874MagnesiumBy similarity1
Metal bindingi878MagnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

  • endocytosis Source: GO_Central
  • establishment of protein localization to Golgi Source: UniProtKB
  • phospholipid translocation Source: UniProtKB
  • retrograde vesicle-mediated transport, Golgi to ER Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

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

Enzyme and pathway databases

BioCyciZFISH:HS09386-MONOMER.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable phospholipid-transporting ATPase IIB (EC:3.6.3.1)
Alternative name(s):
ATPase class II type 9B
Gene namesi
Name:ATP9B
Synonyms:ATPIIB, NEO1L
ORF Names:HUSSY-20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:13541. ATP9B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 146CytoplasmicSequence analysisAdd BLAST146
Transmembranei147 – 168HelicalSequence analysisAdd BLAST22
Topological domaini169 – 173ExtracellularSequence analysis5
Transmembranei174 – 196HelicalSequence analysisAdd BLAST23
Topological domaini197 – 380CytoplasmicSequence analysisAdd BLAST184
Transmembranei381 – 401HelicalSequence analysisAdd BLAST21
Topological domaini402 – 409ExtracellularSequence analysis8
Transmembranei410 – 431HelicalSequence analysisAdd BLAST22
Topological domaini432 – 930CytoplasmicSequence analysisAdd BLAST499
Transmembranei931 – 951HelicalSequence analysisAdd BLAST21
Topological domaini952 – 963ExtracellularSequence analysisAdd BLAST12
Transmembranei964 – 982HelicalSequence analysisAdd BLAST19
Topological domaini983 – 1012CytoplasmicSequence analysisAdd BLAST30
Transmembranei1013 – 1031HelicalSequence analysisAdd BLAST19
Topological domaini1032 – 1038ExtracellularSequence analysis7
Transmembranei1039 – 1061HelicalSequence analysisAdd BLAST23
Topological domaini1062 – 1067CytoplasmicSequence analysis6
Transmembranei1068 – 1088HelicalSequence analysisAdd BLAST21
Topological domaini1089 – 1105ExtracellularSequence analysisAdd BLAST17
Transmembranei1106 – 1130HelicalSequence analysisAdd BLAST25
Topological domaini1131 – 1147CytoplasmicSequence analysisAdd BLAST17

GO - Cellular componenti

  • endosome Source: GO_Central
  • integral component of membrane Source: UniProtKB-KW
  • perinuclear region of cytoplasm Source: UniProtKB
  • plasma membrane Source: GO_Central
  • trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi374868.
OpenTargetsiENSG00000166377.
PharmGKBiPA25172.

Polymorphism and mutation databases

BioMutaiATP9B.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000463771 – 1147Probable phospholipid-transporting ATPase IIBAdd BLAST1147

Proteomic databases

EPDiO43861.
MaxQBiO43861.
PaxDbiO43861.
PeptideAtlasiO43861.
PRIDEiO43861.

PTM databases

iPTMnetiO43861.
PhosphoSitePlusiO43861.
SwissPalmiO43861.

Expressioni

Gene expression databases

BgeeiENSG00000166377.
CleanExiHS_ATP9B.
ExpressionAtlasiO43861. baseline and differential.
GenevisibleiO43861. HS.

Organism-specific databases

HPAiHPA029364.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000398076.

Structurei

3D structure databases

ProteinModelPortaliO43861.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0210. Eukaryota.
ENOG410XPYK. LUCA.
GeneTreeiENSGT00550000074723.
HOGENOMiHOG000201571.
HOVERGENiHBG050617.
InParanoidiO43861.
KOiK01530.
OMAiKRTCAVG.
OrthoDBiEOG091G076A.
PhylomeDBiO43861.
TreeFamiTF300590.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR030355. ATP9B.
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. 1 hit.
PTHR24092:SF50. PTHR24092:SF50. 1 hit.
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. 3 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43861-1) [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
MADQIPLYPV RSAAAAAANR KRAAYYSAAG PRPGADRHSR YQLEDESAHL
60 70 80 90 100
DEMPLMMSEE GFENEESDYH TLPRARIMQR KRGLEWFVCD GWKFLCTSCC
110 120 130 140 150
GWLINICRRK KELKARTVWL GCPEKCEEKH PRNSIKNQKY NVFTFIPGVL
160 170 180 190 200
YEQFKFFLNL YFLVISCSQF VPALKIGYLY TYWAPLGFVL AVTMTREAID
210 220 230 240 250
EFRRFQRDKE VNSQLYSKLT VRGKVQVKSS DIQVGDLIIV EKNQRIPSDM
260 270 280 290 300
VFLRTSEKAG SCFIRTDQLD GETDWKLKVA VSCTQQLPAL GDLFSISAYV
310 320 330 340 350
YAQKPQMDIH SFEGTFTRED SDPPIHESLS IENTLWASTI VASGTVIGVV
360 370 380 390 400
IYTGKETRSV MNTSNPKNKV GLLDLELNRL TKALFLALVA LSIVMVTLQG
410 420 430 440 450
FVGPWYRNLF RFLLLFSYII PISLRVNLDM GKAVYGWMMM KDENIPGTVV
460 470 480 490 500
RTSTIPEELG RLVYLLTDKT GTLTQNEMIF KRLHLGTVSY GADTMDEIQS
510 520 530 540 550
HVRDSYSQMQ SQAGGNNTGS TPLRKAQSSA PKVRKSVSSR IHEAVKAIVL
560 570 580 590 600
CHNVTPVYES RAGVTEETEF AEADQDFSDE NRTYQASSPD EVALVQWTES
610 620 630 640 650
VGLTLVSRDL TSMQLKTPSG QVLSFCILQL FPFTSESKRM GVIVRDESTA
660 670 680 690 700
EITFYMKGAD VAMSPIVQYN DWLEEECGNM AREGLRTLVV AKKALTEEQY
710 720 730 740 750
QDFESRYTQA KLSMHDRSLK VAAVVESLER EMELLCLTGV EDQLQADVRP
760 770 780 790 800
TLEMLRNAGI KIWMLTGDKL ETATCIAKSS HLVSRTQDIH IFRQVTSRGE
810 820 830 840 850
AHLELNAFRR KHDCALVISG DSLEVCLKYY EHEFVELACQ CPAVVCCRCS
860 870 880 890 900
PTQKARIVTL LQQHTGRRTC AIGDGGNDVS MIQAADCGIG IEGKEGKQAS
910 920 930 940 950
LAADFSITQF RHIGRLLMVH GRNSYKRSAA LGQFVMHRGL IISTMQAVFS
960 970 980 990 1000
SVFYFASVPL YQGFLMVGYA TIYTMFPVFS LVLDQDVKPE MAMLYPELYK
1010 1020 1030 1040 1050
DLTKGRSLSF KTFLIWVLIS IYQGGILMYG ALVLFESEFV HVVAISFTAL
1060 1070 1080 1090 1100
ILTELLMVAL TVRTWHWLMV VAEFLSLGCY VSSLAFLNEY FGIGRVSFGA
1110 1120 1130 1140
FLDVAFITTV TFLWKVSAIT VVSCLPLYVL KYLRRKLSPP SYCKLAS
Length:1,147
Mass (Da):129,304
Last modified:November 25, 2008 - v4
Checksum:i1C3787BF07EFD637
GO
Isoform 2 (identifier: O43861-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1092-1102: Missing.

Show »
Length:1,136
Mass (Da):128,198
Checksum:iEE75E3FF2C930873
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti886D → N in AAC05243 (PubMed:9548971).Curated1
Sequence conflicti1006R → K in AAC05243 (PubMed:9548971).Curated1
Sequence conflicti1020S → I in AAC05243 (PubMed:9548971).Curated1
Sequence conflicti1036E → D in AAC05243 (PubMed:9548971).Curated1
Sequence conflicti1073E → D in AAC05243 (PubMed:9548971).Curated1
Sequence conflicti1095R → K in AAC05243 (PubMed:9548971).Curated1
Sequence conflicti1103D → N in AAC05243 (PubMed:9548971).Curated1
Sequence conflicti1131K → N in AAC05243 (PubMed:9548971).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04755739S → G.1 PublicationCorresponds to variant rs4078115dbSNPEnsembl.1
Natural variantiVAR_061037108R → Q.Corresponds to variant rs34938281dbSNPEnsembl.1
Natural variantiVAR_047558504D → N.Corresponds to variant rs36034863dbSNPEnsembl.1
Natural variantiVAR_047559732M → L.Corresponds to variant rs585033dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0357901092 – 1102Missing in isoform 2. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC023090 Genomic DNA. No translation available.
AC099689 Genomic DNA. No translation available.
AC104423 Genomic DNA. No translation available.
AC125437 Genomic DNA. No translation available.
BC125219 mRNA. Translation: AAI25220.1.
BC125220 mRNA. Translation: AAI25221.1.
AK097757 mRNA. No translation available.
U78978 mRNA. Translation: AAC05243.1.
AJ006268 mRNA. Translation: CAA06934.1.
CCDSiCCDS12014.1. [O43861-1]
CCDS77202.1. [O43861-2]
RefSeqiNP_001293014.1. NM_001306085.1. [O43861-2]
NP_940933.3. NM_198531.4. [O43861-1]
UniGeneiHs.465475.

Genome annotation databases

EnsembliENST00000307671; ENSP00000304500; ENSG00000166377. [O43861-2]
ENST00000426216; ENSP00000398076; ENSG00000166377. [O43861-1]
GeneIDi374868.
KEGGihsa:374868.
UCSCiuc002lmw.2. human. [O43861-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC023090 Genomic DNA. No translation available.
AC099689 Genomic DNA. No translation available.
AC104423 Genomic DNA. No translation available.
AC125437 Genomic DNA. No translation available.
BC125219 mRNA. Translation: AAI25220.1.
BC125220 mRNA. Translation: AAI25221.1.
AK097757 mRNA. No translation available.
U78978 mRNA. Translation: AAC05243.1.
AJ006268 mRNA. Translation: CAA06934.1.
CCDSiCCDS12014.1. [O43861-1]
CCDS77202.1. [O43861-2]
RefSeqiNP_001293014.1. NM_001306085.1. [O43861-2]
NP_940933.3. NM_198531.4. [O43861-1]
UniGeneiHs.465475.

3D structure databases

ProteinModelPortaliO43861.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000398076.

PTM databases

iPTMnetiO43861.
PhosphoSitePlusiO43861.
SwissPalmiO43861.

Polymorphism and mutation databases

BioMutaiATP9B.

Proteomic databases

EPDiO43861.
MaxQBiO43861.
PaxDbiO43861.
PeptideAtlasiO43861.
PRIDEiO43861.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307671; ENSP00000304500; ENSG00000166377. [O43861-2]
ENST00000426216; ENSP00000398076; ENSG00000166377. [O43861-1]
GeneIDi374868.
KEGGihsa:374868.
UCSCiuc002lmw.2. human. [O43861-1]

Organism-specific databases

CTDi374868.
DisGeNETi374868.
GeneCardsiATP9B.
HGNCiHGNC:13541. ATP9B.
HPAiHPA029364.
MIMi614446. gene.
neXtProtiNX_O43861.
OpenTargetsiENSG00000166377.
PharmGKBiPA25172.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0210. Eukaryota.
ENOG410XPYK. LUCA.
GeneTreeiENSGT00550000074723.
HOGENOMiHOG000201571.
HOVERGENiHBG050617.
InParanoidiO43861.
KOiK01530.
OMAiKRTCAVG.
OrthoDBiEOG091G076A.
PhylomeDBiO43861.
TreeFamiTF300590.

Enzyme and pathway databases

BioCyciZFISH:HS09386-MONOMER.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSiATP9B. human.
GenomeRNAii374868.
PROiO43861.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166377.
CleanExiHS_ATP9B.
ExpressionAtlasiO43861. baseline and differential.
GenevisibleiO43861. HS.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR030355. ATP9B.
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. 1 hit.
PTHR24092:SF50. PTHR24092:SF50. 1 hit.
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. 3 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATP9B_HUMAN
AccessioniPrimary (citable) accession number: O43861
Secondary accession number(s): O60872, Q08AD8, Q08AD9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 25, 2008
Last modified: November 2, 2016
This is version 153 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

Caution

It is uncertain whether Met-1 or Met-53 is the initiator.Curated

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.