O43861 (ATP9B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1147 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Catalytic activity	ATP + H2O + phospholipid(side 1) = ADP + phosphate + phospholipid(side 2).
Subcellular location	Golgi apparatus › trans-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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	establishment of protein localization to Golgi Inferred from mutant phenotype Ref.6. Source: UniProtKB phospholipid translocation Non-traceable author statement Ref.6. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Non-traceable author statement. Source: UniProtKB perinuclear region of cytoplasm Inferred from direct assay Ref.6. Source: UniProtKB trans-Golgi network Inferred from direct assay Ref.6. Source: UniProtKB
Molecular_function	ATP binding Non-traceable author statement. Source: UniProtKB aminophospholipid transporter activity Non-traceable author statement. Source: UniProtKB cation-transporting ATPase activity Non-traceable author statement. Source: UniProtKB magnesium ion binding Inferred from electronic annotation. Source: InterPro phospholipid-translocating ATPase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1147	1147	Probable phospholipid-transporting ATPase IIB		PRO_0000046377
Regions
	Topological domain	1 – 146	146	Cytoplasmic Potential
	Transmembrane	147 – 168	22	Helical; Potential
	Topological domain	169 – 173	5	Extracellular Potential
	Transmembrane	174 – 196	23	Helical; Potential
	Topological domain	197 – 380	184	Cytoplasmic Potential
	Transmembrane	381 – 401	21	Helical; Potential
	Topological domain	402 – 409	8	Extracellular Potential
	Transmembrane	410 – 431	22	Helical; Potential
	Topological domain	432 – 930	499	Cytoplasmic Potential
	Transmembrane	931 – 951	21	Helical; Potential
	Topological domain	952 – 963	12	Extracellular Potential
	Transmembrane	964 – 982	19	Helical; Potential
	Topological domain	983 – 1012	30	Cytoplasmic Potential
	Transmembrane	1013 – 1031	19	Helical; Potential
	Topological domain	1032 – 1038	7	Extracellular Potential
	Transmembrane	1039 – 1061	23	Helical; Potential
	Topological domain	1062 – 1067	6	Cytoplasmic Potential
	Transmembrane	1068 – 1088	21	Helical; Potential
	Topological domain	1089 – 1105	17	Extracellular Potential
	Transmembrane	1106 – 1130	25	Helical; Potential
	Topological domain	1131 – 1147	17	Cytoplasmic Potential
Sites
	Active site	468	1	4-aspartylphosphate intermediate By similarity
	Metal binding	874	1	Magnesium By similarity
	Metal binding	878	1	Magnesium By similarity
Natural variations
	Alternative sequence	1092 – 1102	11	Missing in isoform 2.		VSP_035790
	Natural variant	39	1	S → G. Ref.2 Corresponds to variant rs4078115 [ dbSNP | Ensembl ].		VAR_047557
	Natural variant	108	1	R → Q. Corresponds to variant rs34938281 [ dbSNP | Ensembl ].		VAR_061037
	Natural variant	504	1	D → N. Corresponds to variant rs36034863 [ dbSNP | Ensembl ].		VAR_047558
	Natural variant	732	1	M → L. Corresponds to variant rs585033 [ dbSNP | Ensembl ].		VAR_047559
Experimental info
	Sequence conflict	886	1	D → N in AAC05243. Ref.4
	Sequence conflict	1006	1	R → K in AAC05243. Ref.4
	Sequence conflict	1020	1	S → I in AAC05243. Ref.4
	Sequence conflict	1036	1	E → D in AAC05243. Ref.4
	Sequence conflict	1073	1	E → D in AAC05243. Ref.4
	Sequence conflict	1095	1	R → K in AAC05243. Ref.4
	Sequence conflict	1103	1	D → N in AAC05243. Ref.4
	Sequence conflict	1131	1	K → N in AAC05243. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 4. Checksum: 1C3787BF07EFD637	FASTA	1,147	129,304
	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
	Isoform 2 [UniParc]. Checksum: EE75E3FF2C930873	FASTA	1,136	128,198
	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 VSSLAFLNEY FDVAFITTVT FLWKVSAITV VSCLPLYVLK YLRRKLSPPS YCKLAS

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00396022. IPI00479667.
RefSeq	NP_940933.3. NM_198531.3.
UniGene	Hs.465475.
3D structure databases
ProteinModelPortal	O43861.
ModBase	Search...
PTM databases
PhosphoSite	O43861.
Proteomic databases
PaxDb	O43861.
PRIDE	O43861.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307671; ENSP00000304500; ENSG00000166377. ENST00000426216; ENSP00000398076; ENSG00000166377. ENST00000575536; ENSP00000458245; ENSG00000262782.
GeneID	374868.
KEGG	hsa:374868.
UCSC	uc002lmw.1. human. uc002lmx.3. human.
Organism-specific databases
CTD	374868.
GeneCards	GC18P076855.
HGNC	HGNC:13541. ATP9B.
HPA	HPA029364.
MIM	614446. gene.
neXtProt	NX_O43861.
PharmGKB	PA25172.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0474.
HOGENOM	HOG000201571.
HOVERGEN	HBG050617.
InParanoid	O43861.
KO	K01530.
OMA	QIFPFTS.
OrthoDB	EOG4T1HKQ.
PhylomeDB	O43861.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	O43861.
Bgee	O43861.
CleanEx	HS_ATP9B.
Genevestigator	O43861.
GermOnline	ENSG00000166377. Homo sapiens.
Family and domain databases
Gene3D	2.70.150.10. 2 hits. 3.40.1110.10. 2 hits. 3.40.50.1000. 2 hits.
InterPro	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]
PANTHER	PTHR24092. PTHR24092. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 1 hit. PF00702. Hydrolase. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE.
SUPFAM	SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit.
TIGRFAMs	TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 3 hits.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	374868.
NextBio	100277.
SOURCE	Search...

Entry information

Entry name

ATP9B_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 122 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.