Reviewed, UniProtKB/Swiss-Prot O43861 (ATP9B_HUMAN)

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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1147 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
Subcellular location	Membrane; Multi-pass membrane protein.
Sequence similarities	Belongs to the cation transport ATPase (P-type) family. Type IV subfamily.
Caution	It is uncertain whether Met-1 or Met-53 is the initiator.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	aminophospholipid transport Non-traceable author statement. Source: UniProtKB metabolic process Inferred from electronic annotation. Source: InterPro phospholipid transport Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Non-traceable author statement. Source: UniProtKB
Molecular function	ATP binding Non-traceable author statement. Source: UniProtKB ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism Inferred from electronic annotation. Source: InterPro 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: InterPro
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	Potential
	Topological domain	169 – 173	5	Extracellular Potential
	Transmembrane	174 – 196	23	Potential
	Topological domain	197 – 380	184	Cytoplasmic Potential
	Transmembrane	381 – 401	21	Potential
	Topological domain	402 – 409	8	Extracellular Potential
	Transmembrane	410 – 431	22	Potential
	Topological domain	432 – 930	499	Cytoplasmic Potential
	Transmembrane	931 – 951	21	Potential
	Topological domain	952 – 963	12	Extracellular Potential
	Transmembrane	964 – 982	19	Potential
	Topological domain	983 – 1012	30	Cytoplasmic Potential
	Transmembrane	1013 – 1031	19	Potential
	Topological domain	1032 – 1038	7	Extracellular Potential
	Transmembrane	1039 – 1061	23	Potential
	Topological domain	1062 – 1067	6	Cytoplasmic Potential
	Transmembrane	1068 – 1088	21	Potential
	Topological domain	1089 – 1105	17	Extracellular Potential
	Transmembrane	1106 – 1130	25	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: dbSNP rs4078115. Ref.2		VAR_047557
	Natural variant	504	1	D → N: dbSNP rs36034863.		VAR_047558
	Natural variant	732	1	M → L: dbSNP rs585033.		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. Checksum: EE75E3FF2C930873		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: 16177791] [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: 15489334] [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: 14702039] [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: 9548971] [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: 11124703] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 820-1147 (ISOFORM 1). Tissue: Brain.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
RefSeq	NP_940933.3.
UniGene	Hs.465475
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	O43861.
Proteomic databases
PRIDE	O43861.
Genome annotation databases
Ensembl	ENSG00000166377. Homo sapiens. [Contig view]
GeneID	374868.
KEGG	hsa:374868.
Organism-specific databases
GeneCards	GC18P074930.
HGNC	HGNC:13541. ATP9B.
PharmGKB	PA25172.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	O43861.
HOVERGEN	O43861.
Gene expression databases
ArrayExpress	O43861.
CleanEx	HS_ATP9B.
GermOnline	ENSG00000166377. Homo sapiens.
Family and domain databases
InterPro	IPR001757. ATPase_P. IPR005834. Dehalogen-like_hydro. IPR006539. Flippase. [Graphical view]
PANTHER	PTHR11939. ATPase_P. 1 hit.
Pfam	PF00702. Hydrolase. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE.
TIGRFAMs	TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 4 hits.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
LinkHub	O43861.

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:	December 16, 2008
This is version 77 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)