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O43861 (ATP9B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable phospholipid-transporting ATPase IIB

EC=3.6.3.1
Alternative name(s):
ATPase class II type 9B
Gene names
Name:ATP9B
Synonyms:ATPIIB, NEO1L
ORF Names:HUSSY-20
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1147 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Catalytic activity

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

Subcellular location

Golgi apparatustrans-Golgi network membrane; Multi-pass membrane protein. Note: Efficient exit from the endoplasmic reticulum does not require TMEM30A, nor TMEM30B. Ref.6

Sequence similarities

Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. [View classification]

Caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43861-1)

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.
Isoform 2 (identifier: O43861-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11471147Probable phospholipid-transporting ATPase IIB
PRO_0000046377

Regions

Topological domain1 – 146146Cytoplasmic Potential
Transmembrane147 – 16822Helical; Potential
Topological domain169 – 1735Extracellular Potential
Transmembrane174 – 19623Helical; Potential
Topological domain197 – 380184Cytoplasmic Potential
Transmembrane381 – 40121Helical; Potential
Topological domain402 – 4098Extracellular Potential
Transmembrane410 – 43122Helical; Potential
Topological domain432 – 930499Cytoplasmic Potential
Transmembrane931 – 95121Helical; Potential
Topological domain952 – 96312Extracellular Potential
Transmembrane964 – 98219Helical; Potential
Topological domain983 – 101230Cytoplasmic Potential
Transmembrane1013 – 103119Helical; Potential
Topological domain1032 – 10387Extracellular Potential
Transmembrane1039 – 106123Helical; Potential
Topological domain1062 – 10676Cytoplasmic Potential
Transmembrane1068 – 108821Helical; Potential
Topological domain1089 – 110517Extracellular Potential
Transmembrane1106 – 113025Helical; Potential
Topological domain1131 – 114717Cytoplasmic Potential

Sites

Active site46814-aspartylphosphate intermediate By similarity
Metal binding8741Magnesium By similarity
Metal binding8781Magnesium By similarity

Natural variations

Alternative sequence1092 – 110211Missing in isoform 2.
VSP_035790
Natural variant391S → G. Ref.2
Corresponds to variant rs4078115 [ dbSNP | Ensembl ].
VAR_047557
Natural variant1081R → Q.
Corresponds to variant rs34938281 [ dbSNP | Ensembl ].
VAR_061037
Natural variant5041D → N.
Corresponds to variant rs36034863 [ dbSNP | Ensembl ].
VAR_047558
Natural variant7321M → L.
Corresponds to variant rs585033 [ dbSNP | Ensembl ].
VAR_047559

Experimental info

Sequence conflict8861D → N in AAC05243. Ref.4
Sequence conflict10061R → K in AAC05243. Ref.4
Sequence conflict10201S → I in AAC05243. Ref.4
Sequence conflict10361E → D in AAC05243. Ref.4
Sequence conflict10731E → D in AAC05243. Ref.4
Sequence conflict10951R → K in AAC05243. Ref.4
Sequence conflict11031D → N in AAC05243. Ref.4
Sequence conflict11311K → N in AAC05243. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 4.
Checksum: 1C3787BF07EFD637

FASTA1,147129,304
        10         20         30         40         50         60 
MADQIPLYPV RSAAAAAANR KRAAYYSAAG PRPGADRHSR YQLEDESAHL DEMPLMMSEE 

        70         80         90        100        110        120 
GFENEESDYH TLPRARIMQR KRGLEWFVCD GWKFLCTSCC GWLINICRRK KELKARTVWL 

       130        140        150        160        170        180 
GCPEKCEEKH PRNSIKNQKY NVFTFIPGVL YEQFKFFLNL YFLVISCSQF VPALKIGYLY 

       190        200        210        220        230        240 
TYWAPLGFVL AVTMTREAID EFRRFQRDKE VNSQLYSKLT VRGKVQVKSS DIQVGDLIIV 

       250        260        270        280        290        300 
EKNQRIPSDM VFLRTSEKAG SCFIRTDQLD GETDWKLKVA VSCTQQLPAL GDLFSISAYV 

       310        320        330        340        350        360 
YAQKPQMDIH SFEGTFTRED SDPPIHESLS IENTLWASTI VASGTVIGVV IYTGKETRSV 

       370        380        390        400        410        420 
MNTSNPKNKV GLLDLELNRL TKALFLALVA LSIVMVTLQG FVGPWYRNLF RFLLLFSYII 

       430        440        450        460        470        480 
PISLRVNLDM GKAVYGWMMM KDENIPGTVV RTSTIPEELG RLVYLLTDKT GTLTQNEMIF 

       490        500        510        520        530        540 
KRLHLGTVSY GADTMDEIQS HVRDSYSQMQ SQAGGNNTGS TPLRKAQSSA PKVRKSVSSR 

       550        560        570        580        590        600 
IHEAVKAIVL CHNVTPVYES RAGVTEETEF AEADQDFSDE NRTYQASSPD EVALVQWTES 

       610        620        630        640        650        660 
VGLTLVSRDL TSMQLKTPSG QVLSFCILQL FPFTSESKRM GVIVRDESTA EITFYMKGAD 

       670        680        690        700        710        720 
VAMSPIVQYN DWLEEECGNM AREGLRTLVV AKKALTEEQY QDFESRYTQA KLSMHDRSLK 

       730        740        750        760        770        780 
VAAVVESLER EMELLCLTGV EDQLQADVRP TLEMLRNAGI KIWMLTGDKL ETATCIAKSS 

       790        800        810        820        830        840 
HLVSRTQDIH IFRQVTSRGE AHLELNAFRR KHDCALVISG DSLEVCLKYY EHEFVELACQ 

       850        860        870        880        890        900 
CPAVVCCRCS PTQKARIVTL LQQHTGRRTC AIGDGGNDVS MIQAADCGIG IEGKEGKQAS 

       910        920        930        940        950        960 
LAADFSITQF RHIGRLLMVH GRNSYKRSAA LGQFVMHRGL IISTMQAVFS SVFYFASVPL 

       970        980        990       1000       1010       1020 
YQGFLMVGYA TIYTMFPVFS LVLDQDVKPE MAMLYPELYK DLTKGRSLSF KTFLIWVLIS 

      1030       1040       1050       1060       1070       1080 
IYQGGILMYG ALVLFESEFV HVVAISFTAL ILTELLMVAL TVRTWHWLMV VAEFLSLGCY 

      1090       1100       1110       1120       1130       1140 
VSSLAFLNEY FGIGRVSFGA FLDVAFITTV TFLWKVSAIT VVSCLPLYVL KYLRRKLSPP 


SYCKLAS 

« Hide

Isoform 2 [UniParc].

Checksum: EE75E3FF2C930873
Show »

FASTA1,136128,198

References

« Hide 'large scale' references
[1]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_940933.3. NM_198531.3.
XP_005266748.1. XM_005266691.1.
UniGeneHs.465475.

3D structure databases

ProteinModelPortalO43861.
SMRO43861. Positions 707-985.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131925. 1 interaction.
STRING9606.ENSP00000304500.

PTM databases

PhosphoSiteO43861.

Proteomic databases

PaxDbO43861.
PRIDEO43861.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307671; ENSP00000304500; ENSG00000166377. [O43861-2]
ENST00000426216; ENSP00000398076; ENSG00000166377. [O43861-1]
ENST00000575536; ENSP00000458245; ENSG00000262782. [O43861-1]
GeneID374868.
KEGGhsa:374868.
UCSCuc002lmw.1. human. [O43861-2]
uc002lmx.3. human. [O43861-1]

Organism-specific databases

CTD374868.
GeneCardsGC18P076855.
HGNCHGNC:13541. ATP9B.
HPAHPA029364.
MIM614446. gene.
neXtProtNX_O43861.
PharmGKBPA25172.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0474.
HOGENOMHOG000201571.
HOVERGENHBG050617.
InParanoidO43861.
KOK01530.
OMASYANEAM.
PhylomeDBO43861.
TreeFamTF300590.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO43861.
BgeeO43861.
CleanExHS_ATP9B.
GenevestigatorO43861.

Family and domain databases

Gene3D2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProIPR023299. 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]
PANTHERPTHR24092. PTHR24092. 1 hit.
PfamPF00122. E1-E2_ATPase. 1 hit.
PF00702. Hydrolase. 1 hit.
[Graphical view]
PRINTSPR00119. CATATPASE.
SUPFAMSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 3 hits.
PROSITEPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi374868.
NextBio100277.
PROO43861.
SOURCESearch...

Entry information

Entry nameATP9B_HUMAN
AccessionPrimary (citable) accession number: O43861
Secondary accession number(s): O60872, Q08AD8, Q08AD9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 25, 2008
Last modified: April 16, 2014
This is version 129 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM