Reviewed, UniProtKB/Swiss-Prot Q9NTI2 (AT8A2_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable phospholipid-transporting ATPase IB
    EC=3.6.3.1
Alternative name(s):
    ATPase class I type 8A member 2
    ML-1

Gene names

Name:	ATP8A2
Synonyms:	ATPIB

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	1148 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	ATP + H2O + 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.

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	ATP biosynthetic process Inferred from electronic annotation. Source: InterPro negative regulation of cell proliferation Ref.3 Traceable author statement. Source: ProtInc phospholipid transport Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism Inferred from electronic annotation. Source: InterPro magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW 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: Q9NTI2-1)

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.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q9NTI2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     515-543: MGQEQTFGILNVLEFSSDRKRMSVIVRTP → VSNMRVHFRSPAFVKIVCVKWHVYCKYDQ
     544-697: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1148	1148	Probable phospholipid-transporting ATPase IB		PRO_0000046362
Regions
	Topological domain	1 – 44	44	Cytoplasmic Potential
	Transmembrane	45 – 66	22	Potential
	Topological domain	67 – 71	5	Extracellular Potential
	Transmembrane	72 – 94	23	Potential
	Topological domain	95 – 276	182	Cytoplasmic Potential
	Transmembrane	277 – 298	22	Potential
	Topological domain	299 – 323	25	Extracellular Potential
	Transmembrane	324 – 345	22	Potential
	Topological domain	346 – 837	492	Cytoplasmic Potential
	Transmembrane	838 – 858	21	Potential
	Topological domain	859 – 870	12	Extracellular Potential
	Transmembrane	871 – 890	20	Potential
	Topological domain	891 – 920	30	Cytoplasmic Potential
	Transmembrane	921 – 942	22	Potential
	Topological domain	943 – 956	14	Extracellular Potential
	Transmembrane	957 – 979	23	Potential
	Topological domain	980 – 985	6	Cytoplasmic Potential
	Transmembrane	986 – 1006	21	Potential
	Topological domain	1007 – 1024	18	Extracellular Potential
	Transmembrane	1025 – 1049	25	Potential
	Topological domain	1050 – 1148	99	Cytoplasmic Potential
Sites
	Active site	388	1	4-aspartylphosphate intermediate By similarity
	Metal binding	781	1	Magnesium By similarity
	Metal binding	785	1	Magnesium By similarity
Amino acid modifications
	Modified residue	5	1	Phosphothreonine By similarity
Natural variations
	Alternative sequence	515 – 543	29	MGQEQ…IVRTP → VSNMRVHFRSPAFVKIVCVK WHVYCKYDQ in isoform 2.		VSP_008038
	Alternative sequence	544 – 697	154	Missing in isoform 2.		VSP_008039
	Natural variant	1029	1	A → T: dbSNP rs2296242.		VAR_055543
Experimental info
	Sequence conflict	949 – 950	2	LT → FD Ref.1
	Sequence conflict	949 – 950	2	LT → FD Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 30, 2003. Version 2. Checksum: E9F363B568C7EE82	FASTA	1,148	129,242
	10 20 30 40 50 60 MSRATSVGDQ LEAPARTIYL NQPHLNKFRD NQISTAKYSV LTFLPRFLYE QIRRAANAFF 70 80 90 100 110 120 LFIALLQQIP DVSPTGRYTT LVPLIIILTI AGIKEIVEDF KRHKADNAVN KKKTIVLRNG 130 140 150 160 170 180 MWHTIMWKEV AVGDIVKVVN GQYLPADVVL LSSSEPQAMC YVETANLDGE TNLKIRQGLS 190 200 210 220 230 240 HTADMQTREV LMKLSGTIEC EGPNRHLYDF TGNLNLDGKS LVALGPDQIL LRGTQLRNTQ 250 260 270 280 290 300 WVFGIVVYTG HDTKLMQNST KAPLKRSNVE KVTNVQILVL FGILLVMALV SSAGALYWNR 310 320 330 340 350 360 SHGEKNWYIK KMDTTSDNFG YNLLTFIILY NNLIPISLLV TLEVVKYTQA LFINWDTDMY 370 380 390 400 410 420 YIGNDTPAMA RTSNLNEELG QVKYLFSDKT GTLTCNIMNF KKCSIAGVTY GHFPELAREP 430 440 450 460 470 480 SSDDFCRMPP PCSDSCDFDD PRLLKNIEDR HPTAPCIQEF LTLLAVCHTV VPEKDGDNII 490 500 510 520 530 540 YQASSPDEAA LVKGAKKLGF VFTARTPFSV IIEAMGQEQT FGILNVLEFS SDRKRMSVIV 550 560 570 580 590 600 RTPSGRLRLY CKGADNVIFE RLSKDSKYME ETLCHLEYFA TEGLRTLCVA YADLSENEYE 610 620 630 640 650 660 EWLKVYQEAS TILKDRAQRL EECYEIIEKN LLLLGATAIE DRLQAGVPET IATLLKAEIK 670 680 690 700 710 720 IWVLTGDKQE TAINIGYSCR LVSQNMALIL LKEDSLDATR AAITQHCTDL GNLLGKENDV 730 740 750 760 770 780 ALIIDGHTLK YALSFEVRRS FLDLALSCKA VICCRVSPLQ KSEIVDVVKK RVKAITLAIG 790 800 810 820 830 840 DGANDVGMIQ TAHVGVGISG NEGMQATNNS DYAIAQFSYL EKLLLVHGAW SYNRVTKCIL 850 860 870 880 890 900 YCFYKNVVLY IIELWFAFVN GFSGQILFER WCIGLYNVIF TALPPFTLGI FERSCTQESM 910 920 930 940 950 960 LRFPQLYKIT QNGEGFNTKV FWGHCINALV HSLILFWFPM KALEHDTVLT SGHATDYLFV 970 980 990 1000 1010 1020 GNIVYTYVVV TVCLKAGLET TAWTKFSHLA VWGSMLTWLV FFGIYSTIWP TIPIAPDMRG 1030 1040 1050 1060 1070 1080 QATMVLSSAH FWLGLFLVPT ACLIEDVAWR AAKHTCKKTL LEEVQELETK SRVLGKAVLR 1090 1100 1110 1120 1130 1140 DSNGKRLNER DRLIKRLGRK TPPTLFRGSS LQQGVPHGYA FSQEEHGAVS QEEVIRAYDT TKKKSRKK
	Isoform 2. Checksum: DD3232A325548A0F	FASTA	994	111,857
	10 20 30 40 50 60 MSRATSVGDQ LEAPARTIYL NQPHLNKFRD NQISTAKYSV LTFLPRFLYE QIRRAANAFF 70 80 90 100 110 120 LFIALLQQIP DVSPTGRYTT LVPLIIILTI AGIKEIVEDF KRHKADNAVN KKKTIVLRNG 130 140 150 160 170 180 MWHTIMWKEV AVGDIVKVVN GQYLPADVVL LSSSEPQAMC YVETANLDGE TNLKIRQGLS 190 200 210 220 230 240 HTADMQTREV LMKLSGTIEC EGPNRHLYDF TGNLNLDGKS LVALGPDQIL LRGTQLRNTQ 250 260 270 280 290 300 WVFGIVVYTG HDTKLMQNST KAPLKRSNVE KVTNVQILVL FGILLVMALV SSAGALYWNR 310 320 330 340 350 360 SHGEKNWYIK KMDTTSDNFG YNLLTFIILY NNLIPISLLV TLEVVKYTQA LFINWDTDMY 370 380 390 400 410 420 YIGNDTPAMA RTSNLNEELG QVKYLFSDKT GTLTCNIMNF KKCSIAGVTY GHFPELAREP 430 440 450 460 470 480 SSDDFCRMPP PCSDSCDFDD PRLLKNIEDR HPTAPCIQEF LTLLAVCHTV VPEKDGDNII 490 500 510 520 530 540 YQASSPDEAA LVKGAKKLGF VFTARTPFSV IIEAVSNMRV HFRSPAFVKI VCVKWHVYCK 550 560 570 580 590 600 YDQATRAAIT QHCTDLGNLL GKENDVALII DGHTLKYALS FEVRRSFLDL ALSCKAVICC 610 620 630 640 650 660 RVSPLQKSEI VDVVKKRVKA ITLAIGDGAN DVGMIQTAHV GVGISGNEGM QATNNSDYAI 670 680 690 700 710 720 AQFSYLEKLL LVHGAWSYNR VTKCILYCFY KNVVLYIIEL WFAFVNGFSG QILFERWCIG 730 740 750 760 770 780 LYNVIFTALP PFTLGIFERS CTQESMLRFP QLYKITQNGE GFNTKVFWGH CINALVHSLI 790 800 810 820 830 840 LFWFPMKALE HDTVLTSGHA TDYLFVGNIV YTYVVVTVCL KAGLETTAWT KFSHLAVWGS 850 860 870 880 890 900 MLTWLVFFGI YSTIWPTIPI APDMRGQATM VLSSAHFWLG LFLVPTACLI EDVAWRAAKH 910 920 930 940 950 960 TCKKTLLEEV QELETKSRVL GKAVLRDSNG KRLNERDRLI KRLGRKTPPT LFRGSSLQQG 970 980 990 VPHGYAFSQE EHGAVSQEEV IRAYDTTKKK SRKK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Sun X.L., Milo G.E., Li D. Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 2).
[2]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Changes in levels of normal ML-1 gene transcripts associated with the conversion of human nontumorigenic to tumorigenic phenotypes." Sun X.L., Li D., Fang J., Noyes I., Casto B., Theil K., Shuler C., Milo G.E. Gene Expr. 8:129-139(1999) [PubMed: 10551800] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA].
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 155-1148 (ISOFORM 1). Tissue: Amygdala and Testis.
[5]	"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 359-1148 (ISOFORM 1). Tissue: Amygdala.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF236871 mRNA. Translation: AAF40215.2. AL138815 , AL136438, AL138958, AL157366, AL356316, AL669971 Genomic DNA. Translation: CAH70513.1. AL138958 , AL136438, AL138815, AL157366, AL356316, AL669971 Genomic DNA. Translation: CAH71291.1. AL157366 , AL136438, AL138815, AL138958, AL356316, AL669971 Genomic DNA. Translation: CAH74073.1. AL356316 , AL136438, AL138815, AL138958, AL157366, AL669971 Genomic DNA. Translation: CAH70876.1. AL669971 , AL136438, AL138815, AL138958, AL157366, AL356316 Genomic DNA. Translation: CAH73647.1. AL136438 , AL138815, AL138958, AL157366, AL356316, AL669971 Genomic DNA. Translation: CAH70146.1. BX537836 mRNA. Translation: CAD97848.1. AK094653 mRNA. Translation: BAC04396.1. AL137256 mRNA. Translation: CAB70658.1. AL390129 mRNA. Translation: CAB99084.1.
IPI	IPI00337792. IPI00465166.
PIR	T46328. T51867.
UniGene	Hs.444957
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q9NTI2.
Genome annotation databases
Ensembl	ENSG00000132932. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC13P024844.
HGNC	HGNC:13533. ATP8A2.
MIM	605870. gene.
PharmGKB	PA25166.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9NTI2.
Enzyme and pathway databases
BRENDA	3.6.3.1. 247.
Gene expression databases
ArrayExpress	Q9NTI2.
Bgee	Q9NTI2.
CleanEx	HS_ATP8A2.
GermOnline	ENSG00000132932. Homo sapiens.
Family and domain databases
InterPro	IPR008250. ATPase_P-typ_ATPase-assoc-reg. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_phosphor_site. IPR006539. ATPase_P-typ_Plipid-transl. [Graphical view]
PANTHER	PTHR11939. ATPase_P. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 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
SOURCE	Search...

Entry information

Entry name

AT8A2_HUMAN

Accession

Primary (citable) accession number: Q9NTI2
Secondary accession number(s): Q9H527 , Q9NPU6, Q9NTL2, Q9NYM3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	April 30, 2003
Last modified:	June 16, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)