Reviewed, UniProtKB/Swiss-Prot Q9Y2Q0 (AT8A1_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable phospholipid-transporting ATPase IA
    EC=3.6.3.1
Alternative name(s):
    Chromaffin granule ATPase II
    ATPase class I type 8A member 1

Gene names

Name:	ATP8A1
Synonyms:	ATPIA

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	1164 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various membranes and the maintenance of asymmetric distribution of phospholipids, mainly in secretory vesicles.
Catalytic activity	ATP + H2O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
Subcellular location	Cytoplasmic vesicle › secretory vesicle › chromaffin granule membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Found in most adult tissues except liver, testis and placenta. Most abundant in heart, brain and skeletal muscle. Also detected in fetal tissues. Isoform Long is only detected in brain, skeletal muscle and heart and is the most abundant form in skeletal muscle.
Sequence similarities	Belongs to the cation transport ATPase (P-type) family. Type IV subfamily.

Ontologies

Keywords
Cellular component	Cytoplasmic vesicle Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ATP biosynthetic process Inferred from electronic annotation. Source: InterPro aminophospholipid transport Non-traceable author statement. Source: UniProtKB phospholipid transport Inferred from electronic annotation. Source: InterPro
Cellular component	cytoplasmic vesicle Inferred from electronic annotation. Source: UniProtKB-KW 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 Ref.1 Non-traceable author statement. Source: UniProtKB 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 Long (identifier: Q9Y2Q0-1)

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 Short (identifier: Q9Y2Q0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     433-447: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1164	1164	Probable phospholipid-transporting ATPase IA		PRO_0000046360
Regions
	Topological domain	1 – 65	65	Cytoplasmic Potential
	Transmembrane	66 – 86	21	Potential
	Topological domain	87 – 92	6	Extracellular Potential
	Transmembrane	93 – 115	23	Potential
	Topological domain	116 – 297	182	Cytoplasmic Potential
	Transmembrane	298 – 319	22	Potential
	Topological domain	320 – 344	25	Extracellular Potential
	Transmembrane	345 – 366	22	Potential
	Topological domain	367 – 857	491	Cytoplasmic Potential
	Transmembrane	858 – 878	21	Potential
	Topological domain	879 – 890	12	Extracellular Potential
	Transmembrane	891 – 910	20	Potential
	Topological domain	911 – 940	30	Cytoplasmic Potential
	Transmembrane	941 – 962	22	Potential
	Topological domain	963 – 976	14	Extracellular Potential
	Transmembrane	977 – 999	23	Potential
	Topological domain	1000 – 1005	6	Cytoplasmic Potential
	Transmembrane	1006 – 1026	21	Potential
	Topological domain	1027 – 1044	18	Extracellular Potential
	Transmembrane	1045 – 1070	26	Potential
	Topological domain	1071 – 1164	94	Cytoplasmic Potential
	Nucleotide binding	741 – 748	8	ATP Potential
	Nucleotide binding	1095 – 1102	8	ATP Potential
Sites
	Active site	409	1	4-aspartylphosphate intermediate By similarity
	Metal binding	801	1	Magnesium By similarity
	Metal binding	805	1	Magnesium By similarity
Amino acid modifications
	Modified residue	9	1	Phosphoserine By similarity
	Modified residue	25	1	Phosphoserine Ref.3
	Modified residue	28	1	Phosphothreonine Ref.3
	Modified residue	29	1	Phosphoserine Ref.3
	Modified residue	269	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	433 – 447	15	Missing in isoform Short.		VSP_000431
	Natural variant	673	1	T → M: dbSNP rs3792687.		VAR_022003
Experimental info
	Sequence conflict	364	1	E → K in BAA77248. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified November 1, 1999. Version 1. Checksum: CE1EAF0206CD36F7	FASTA	1,164	131,369
	10 20 30 40 50 60 MPTMRRTVSE IRSRAEGYEK TDDVSEKTSL ADQEEVRTIF INQPQLTKFC NNHVSTAKYN 70 80 90 100 110 120 IITFLPRFLY SQFRRAANSF FLFIALLQQI PDVSPTGRYT TLVPLLFILA VAAIKEIIED 130 140 150 160 170 180 IKRHKADNAV NKKQTQVLRN GAWEIVHWEK VAVGEIVKVT NGEHLPADLI SLSSSEPQAM 190 200 210 220 230 240 CYIETSNLDG ETNLKIRQGL PATSDIKDVD SLMRISGRIE CESPNRHLYD FVGNIRLDGH 250 260 270 280 290 300 GTVPLGADQI LLRGAQLRNT QWVHGIVVYT GHDTKLMQNS TSPPLKLSNV ERITNVQILI 310 320 330 340 350 360 LFCILIAMSL VCSVGSAIWN RRHSGKDWYL NLNYGGASNF GLNFLTFIIL FNNLIPISLL 370 380 390 400 410 420 VTLEVVKFTQ AYFINWDLDM HYEPTDTAAM ARTSNLNEEL GQVKYIFSDK TGTLTCNVMQ 430 440 450 460 470 480 FKKCTIAGVA YGHVPEPEDY GCSPDEWQNS QFGDEKTFSD SSLLENLQNN HPTAPIICEF 490 500 510 520 530 540 LTMMAVCHTA VPEREGDKII YQAASPDEGA LVRAAKQLNF VFTGRTPDSV IIDSLGQEER 550 560 570 580 590 600 YELLNVLEFT SARKRMSVIV RTPSGKLRLY CKGADTVIYD RLAETSKYKE ITLKHLEQFA 610 620 630 640 650 660 TEGLRTLCFA VAEISESDFQ EWRAVYQRAS TSVQNRLLKL EESYELIEKN LQLLGATAIE 670 680 690 700 710 720 DKLQDQVPET IETLMKADIK IWILTGDKQE TAINIGHSCK LLKKNMGMIV INEGSLDGTR 730 740 750 760 770 780 ETLSRHCTTL GDALRKENDF ALIIDGKTLK YALTFGVRQY FLDLALSCKA VICCRVSPLQ 790 800 810 820 830 840 KSEVVEMVKK QVKVVTLAIG DGANDVSMIQ TAHVGVGISG NEGLQAANSS DYSIAQFKYL 850 860 870 880 890 900 KNLLMIHGAW NYNRVSKCIL YCFYKNIVLY IIEIWFAFVN GFSGQILFER WCIGLYNVMF 910 920 930 940 950 960 TAMPPLTLGI FERSCRKENM LKYPELYKTS QNALDFNTKV FWVHCLNGLF HSVILFWFPL 970 980 990 1000 1010 1020 KALQYGTAFG NGKTSDYLLL GNFVYTFVVI TVCLKAGLET SYWTWFSHIA IWGSIALWVV 1030 1040 1050 1060 1070 1080 FFGIYSSLWP AIPMAPDMSG EAAMLFSSGV FWMGLLFIPV ASLLLDVVYK VIKRTAFKTL 1090 1100 1110 1120 1130 1140 VDEVQELEAK SQDPGAVVLG KSLTERAQLL KNVFKKNHVN LYRSESLQQN LLHGYAFSQD 1150 1160 ENGIVSQSEV IRAYDTTKQR PDEW
	Isoform Short. Checksum: DC609CEA87E9F9B1	FASTA	1,149	129,628
	10 20 30 40 50 60 MPTMRRTVSE IRSRAEGYEK TDDVSEKTSL ADQEEVRTIF INQPQLTKFC NNHVSTAKYN 70 80 90 100 110 120 IITFLPRFLY SQFRRAANSF FLFIALLQQI PDVSPTGRYT TLVPLLFILA VAAIKEIIED 130 140 150 160 170 180 IKRHKADNAV NKKQTQVLRN GAWEIVHWEK VAVGEIVKVT NGEHLPADLI SLSSSEPQAM 190 200 210 220 230 240 CYIETSNLDG ETNLKIRQGL PATSDIKDVD SLMRISGRIE CESPNRHLYD FVGNIRLDGH 250 260 270 280 290 300 GTVPLGADQI LLRGAQLRNT QWVHGIVVYT GHDTKLMQNS TSPPLKLSNV ERITNVQILI 310 320 330 340 350 360 LFCILIAMSL VCSVGSAIWN RRHSGKDWYL NLNYGGASNF GLNFLTFIIL FNNLIPISLL 370 380 390 400 410 420 VTLEVVKFTQ AYFINWDLDM HYEPTDTAAM ARTSNLNEEL GQVKYIFSDK TGTLTCNVMQ 430 440 450 460 470 480 FKKCTIAGVA YGQNSQFGDE KTFSDSSLLE NLQNNHPTAP IICEFLTMMA VCHTAVPERE 490 500 510 520 530 540 GDKIIYQAAS PDEGALVRAA KQLNFVFTGR TPDSVIIDSL GQEERYELLN VLEFTSARKR 550 560 570 580 590 600 MSVIVRTPSG KLRLYCKGAD TVIYDRLAET SKYKEITLKH LEQFATEGLR TLCFAVAEIS 610 620 630 640 650 660 ESDFQEWRAV YQRASTSVQN RLLKLEESYE LIEKNLQLLG ATAIEDKLQD QVPETIETLM 670 680 690 700 710 720 KADIKIWILT GDKQETAINI GHSCKLLKKN MGMIVINEGS LDGTRETLSR HCTTLGDALR 730 740 750 760 770 780 KENDFALIID GKTLKYALTF GVRQYFLDLA LSCKAVICCR VSPLQKSEVV EMVKKQVKVV 790 800 810 820 830 840 TLAIGDGAND VSMIQTAHVG VGISGNEGLQ AANSSDYSIA QFKYLKNLLM IHGAWNYNRV 850 860 870 880 890 900 SKCILYCFYK NIVLYIIEIW FAFVNGFSGQ ILFERWCIGL YNVMFTAMPP LTLGIFERSC 910 920 930 940 950 960 RKENMLKYPE LYKTSQNALD FNTKVFWVHC LNGLFHSVIL FWFPLKALQY GTAFGNGKTS 970 980 990 1000 1010 1020 DYLLLGNFVY TFVVITVCLK AGLETSYWTW FSHIAIWGSI ALWVVFFGIY SSLWPAIPMA 1030 1040 1050 1060 1070 1080 PDMSGEAAML FSSGVFWMGL LFIPVASLLL DVVYKVIKRT AFKTLVDEVQ ELEAKSQDPG 1090 1100 1110 1120 1130 1140 AVVLGKSLTE RAQLLKNVFK KNHVNLYRSE SLQQNLLHGY AFSQDENGIV SQSEVIRAYD TTKQRPDEW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, expression, and chromosomal mapping of a human ATPase II gene, member of the third subfamily of P-type ATPases and orthologous to the presumed bovine and murine aminophospholipid translocase." Mouro I., Halleck M.S., Schlegel R.A., Mattei M.-G., Williamson P.L., Zachowski A., Devaux P., Cartron J.-P., Colin Y. Biochem. Biophys. Res. Commun. 257:333-339(1999) [PubMed: 10198212] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT). Tissue: Skeletal muscle.
[2]	"cDNA cloning of human ATPaseII." Osada S., Nakanishi Y. Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-1164 (ISOFORM LONG). Tissue: Brain.
[3]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25; THR-28 AND SER-29, MASS SPECTROMETRY. Tissue: Platelet.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF067820 mRNA. Translation: AAD34706.1. AB013452 mRNA. Translation: BAA77248.1.
IPI	IPI00032402. IPI00221038.
RefSeq	NP_006086.1.
UniGene	Hs.435052
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q9Y2Q0.
Proteomic databases
PRIDE	Q9Y2Q0.
Genome annotation databases
Ensembl	ENST00000381668; ENSP00000371084; ENSG00000124406; Homo sapiens. [Genome view]
GeneID	10396.
UCSC	uc003gwr.2. human.
Organism-specific databases
CTD	10396.
GeneCards	GC04M042105.
HGNC	HGNC:13531. ATP8A1.
MIM	609542. gene.
PharmGKB	PA25165.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG745019.
HOVERGEN	Q9Y2Q0.
InParanoid	Q9Y2Q0.
OMA	YGHVPEP.
OrthoDB	EOG9KWNBZ.
PhylomeDB	Q9Y2Q0.
Enzyme and pathway databases
BRENDA	3.6.3.1. 247.
Gene expression databases
ArrayExpress	Q9Y2Q0.
Bgee	Q9Y2Q0.
CleanEx	HS_ATP8A1.
Genevestigator	Q9Y2Q0.
GermOnline	ENSG00000124406. Homo sapiens.
Family and domain databases
InterPro	IPR008250. ATPase_P-typ_ATPase-assoc-dom. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_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
DrugBank	DB00144. Phosphatidylserine.
NextBio	39390.
SOURCE	Search...

Entry information

Entry name

AT8A1_HUMAN

Accession

Primary (citable) accession number: Q9Y2Q0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 1, 1999
Last modified:	February 9, 2010
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.