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O43861

- ATP9B_HUMAN

UniProt

O43861 - ATP9B_HUMAN

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Protein

Probable phospholipid-transporting ATPase IIB

Gene

ATP9B

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei468 – 46814-aspartylphosphate intermediateBy similarity
Metal bindingi874 – 8741MagnesiumBy similarity
Metal bindingi878 – 8781MagnesiumBy similarity

GO - Molecular functioni

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

GO - Biological processi

  1. establishment of protein localization to Golgi Source: UniProtKB
  2. phospholipid translocation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

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

Enzyme and pathway databases

ReactomeiREACT_25149. 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
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:13541. ATP9B.

Subcellular locationi

Golgi apparatustrans-Golgi network membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Efficient exit from the endoplasmic reticulum does not require TMEM30A, nor TMEM30B.

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. perinuclear region of cytoplasm Source: UniProtKB
  3. trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25172.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11471147Probable phospholipid-transporting ATPase IIBPRO_0000046377Add
BLAST

Proteomic databases

MaxQBiO43861.
PaxDbiO43861.
PRIDEiO43861.

PTM databases

PhosphoSiteiO43861.

Expressioni

Gene expression databases

BgeeiO43861.
CleanExiHS_ATP9B.
ExpressionAtlasiO43861. baseline and differential.
GenevestigatoriO43861.

Organism-specific databases

HPAiHPA029364.

Interactioni

Protein-protein interaction databases

BioGridi131925. 1 interaction.
STRINGi9606.ENSP00000304500.

Structurei

3D structure databases

ProteinModelPortaliO43861.
SMRiO43861. Positions 707-985.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 146146CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini169 – 1735ExtracellularSequence Analysis
Topological domaini197 – 380184CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini402 – 4098ExtracellularSequence Analysis
Topological domaini432 – 930499CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini952 – 96312ExtracellularSequence AnalysisAdd
BLAST
Topological domaini983 – 101230CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini1032 – 10387ExtracellularSequence Analysis
Topological domaini1062 – 10676CytoplasmicSequence Analysis
Topological domaini1089 – 110517ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1131 – 114717CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei147 – 16822HelicalSequence AnalysisAdd
BLAST
Transmembranei174 – 19623HelicalSequence AnalysisAdd
BLAST
Transmembranei381 – 40121HelicalSequence AnalysisAdd
BLAST
Transmembranei410 – 43122HelicalSequence AnalysisAdd
BLAST
Transmembranei931 – 95121HelicalSequence AnalysisAdd
BLAST
Transmembranei964 – 98219HelicalSequence AnalysisAdd
BLAST
Transmembranei1013 – 103119HelicalSequence AnalysisAdd
BLAST
Transmembranei1039 – 106123HelicalSequence AnalysisAdd
BLAST
Transmembranei1068 – 108821HelicalSequence AnalysisAdd
BLAST
Transmembranei1106 – 113025HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0474.
GeneTreeiENSGT00550000074723.
HOGENOMiHOG000201571.
HOVERGENiHBG050617.
InParanoidiO43861.
KOiK01530.
OMAiSYANEAM.
PhylomeDBiO43861.
TreeFamiTF300590.

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.
PF00702. Hydrolase. 1 hit.
[Graphical view]
PRINTSiPR00119. CATATPASE.
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. Align

Isoform 1 (identifier: O43861) [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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti886 – 8861D → N in AAC05243. (PubMed:9548971)Curated
Sequence conflicti1006 – 10061R → K in AAC05243. (PubMed:9548971)Curated
Sequence conflicti1020 – 10201S → I in AAC05243. (PubMed:9548971)Curated
Sequence conflicti1036 – 10361E → D in AAC05243. (PubMed:9548971)Curated
Sequence conflicti1073 – 10731E → D in AAC05243. (PubMed:9548971)Curated
Sequence conflicti1095 – 10951R → K in AAC05243. (PubMed:9548971)Curated
Sequence conflicti1103 – 11031D → N in AAC05243. (PubMed:9548971)Curated
Sequence conflicti1131 – 11311K → N in AAC05243. (PubMed:9548971)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391S → G.1 Publication
Corresponds to variant rs4078115 [ dbSNP | Ensembl ].
VAR_047557
Natural varianti108 – 1081R → Q.
Corresponds to variant rs34938281 [ dbSNP | Ensembl ].
VAR_061037
Natural varianti504 – 5041D → N.
Corresponds to variant rs36034863 [ dbSNP | Ensembl ].
VAR_047558
Natural varianti732 – 7321M → L.
Corresponds to variant rs585033 [ dbSNP | Ensembl ].
VAR_047559

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1092 – 110211Missing in isoform 2. 1 PublicationVSP_035790Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
RefSeqiNP_940933.3. NM_198531.3. [O43861-1]
XP_005266748.1. XM_005266691.1. [O43861-2]
UniGeneiHs.465475.

Genome annotation databases

EnsembliENST00000307671; ENSP00000304500; ENSG00000166377. [O43861-2]
ENST00000426216; ENSP00000398076; ENSG00000166377. [O43861-1]
GeneIDi374868.
KEGGihsa:374868.
UCSCiuc002lmw.1. human. [O43861-2]
uc002lmx.3. human. [O43861-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS12014.1. [O43861-1 ]
RefSeqi NP_940933.3. NM_198531.3. [O43861-1 ]
XP_005266748.1. XM_005266691.1. [O43861-2 ]
UniGenei Hs.465475.

3D structure databases

ProteinModelPortali O43861.
SMRi O43861. Positions 707-985.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131925. 1 interaction.
STRINGi 9606.ENSP00000304500.

PTM databases

PhosphoSitei O43861.

Proteomic databases

MaxQBi O43861.
PaxDbi O43861.
PRIDEi O43861.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000307671 ; ENSP00000304500 ; ENSG00000166377 . [O43861-2 ]
ENST00000426216 ; ENSP00000398076 ; ENSG00000166377 . [O43861-1 ]
GeneIDi 374868.
KEGGi hsa:374868.
UCSCi uc002lmw.1. human. [O43861-2 ]
uc002lmx.3. human. [O43861-1 ]

Organism-specific databases

CTDi 374868.
GeneCardsi GC18P076829.
HGNCi HGNC:13541. ATP9B.
HPAi HPA029364.
MIMi 614446. gene.
neXtProti NX_O43861.
PharmGKBi PA25172.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0474.
GeneTreei ENSGT00550000074723.
HOGENOMi HOG000201571.
HOVERGENi HBG050617.
InParanoidi O43861.
KOi K01530.
OMAi SYANEAM.
PhylomeDBi O43861.
TreeFami TF300590.

Enzyme and pathway databases

Reactomei REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

GenomeRNAii 374868.
NextBioi 100277.
PROi O43861.
SOURCEi Search...

Gene expression databases

Bgeei O43861.
CleanExi HS_ATP9B.
ExpressionAtlasi O43861. baseline and differential.
Genevestigatori O43861.

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.
PF00702. Hydrolase. 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. 3 hits.
PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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] (ISOFORM 2), VARIANT GLY-39.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 41-472 (ISOFORMS 1/2).
    Tissue: Testis.
  4. "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 811-1147 (ISOFORM 1).
    Tissue: Brain.
  5. "Characterization of 16 novel human genes showing high similarity to yeast sequences."
    Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
    Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 820-1147 (ISOFORM 1).
    Tissue: Brain.
  6. "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: SUBCELLULAR LOCATION.

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: October 29, 2014
This is version 135 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

External Data

Dasty 3