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Q9Y2Q0 (AT8A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 108. 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 IA

EC=3.6.3.1
Alternative name(s):
ATPase class I type 8A member 1
Chromaffin granule ATPase II
Gene names
Name:ATP8A1
Synonyms:ATPIA
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1164 AA.
Sequence statusComplete.
Protein existenceEvidence 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 vesiclesecretory vesiclechromaffin 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 1 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) (TC 3.A.3) family. Type IV subfamily. [View classification]

Sequence caution

The sequence AAI09318.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAA77248.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2Q0-1)

Also known as: Long;

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: Q9Y2Q0-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     433-447: Missing.
Isoform 3 (identifier: Q9Y2Q0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     152-171: AVGEIVKVTNGEHLPADLIS → NVGDIVIIKGKEYIPADTVL
     433-447: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11641164Probable phospholipid-transporting ATPase IA
PRO_0000046360

Regions

Topological domain1 – 6565Cytoplasmic Potential
Transmembrane66 – 8621Helical; Potential
Topological domain87 – 926Extracellular Potential
Transmembrane93 – 11523Helical; Potential
Topological domain116 – 297182Cytoplasmic Potential
Transmembrane298 – 31922Helical; Potential
Topological domain320 – 34425Extracellular Potential
Transmembrane345 – 36622Helical; Potential
Topological domain367 – 857491Cytoplasmic Potential
Transmembrane858 – 87821Helical; Potential
Topological domain879 – 89012Extracellular Potential
Transmembrane891 – 91020Helical; Potential
Topological domain911 – 94030Cytoplasmic Potential
Transmembrane941 – 96222Helical; Potential
Topological domain963 – 97614Extracellular Potential
Transmembrane977 – 99923Helical; Potential
Topological domain1000 – 10056Cytoplasmic Potential
Transmembrane1006 – 102621Helical; Potential
Topological domain1027 – 104418Extracellular Potential
Transmembrane1045 – 107026Helical; Potential
Topological domain1071 – 116494Cytoplasmic Potential
Nucleotide binding741 – 7488ATP Potential
Nucleotide binding1095 – 11028ATP Potential

Sites

Active site40914-aspartylphosphate intermediate By similarity
Metal binding8011Magnesium By similarity
Metal binding8051Magnesium By similarity

Amino acid modifications

Modified residue91Phosphoserine By similarity
Modified residue251Phosphoserine Ref.5
Modified residue281Phosphothreonine Ref.5
Modified residue291Phosphoserine Ref.5
Modified residue2691Phosphotyrosine By similarity

Natural variations

Alternative sequence152 – 17120AVGEI…ADLIS → NVGDIVIIKGKEYIPADTVL in isoform 3.
VSP_040977
Alternative sequence433 – 44715Missing in isoform 2 and isoform 3.
VSP_000431
Natural variant6731T → M.
Corresponds to variant rs3792687 [ dbSNP | Ensembl ].
VAR_022003

Experimental info

Sequence conflict3641E → K in BAA77248. Ref.3

Sequences

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

Last modified November 1, 1999. Version 1.
Checksum: CE1EAF0206CD36F7

FASTA1,164131,369
        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 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: DC609CEA87E9F9B1
Show »

FASTA1,149129,628
Isoform 3 [UniParc].

Checksum: 83D2F58984DDF966
Show »

FASTA1,149129,723

References

« Hide '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 1 AND 2).
Tissue: Skeletal muscle.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed: 15815621] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"cDNA cloning of human ATPaseII."
Osada S., Nakanishi Y.
Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-1164 (ISOFORM 1).
Tissue: Brain.
[4]"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] OF 3-1164 (ISOFORM 3).
[5]"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.
AC084010 Genomic DNA. Translation: AAY40980.1.
AC096734 Genomic DNA. Translation: AAY40924.1.
AC110788 Genomic DNA. No translation available.
AC139717 Genomic DNA. No translation available.
AB013452 mRNA. Translation: BAA77248.1. Different initiation.
BC109317 mRNA. Translation: AAI09318.1. Different initiation.
IPIIPI00032402.
IPI00221038.
IPI00941654.
RefSeqNP_001098999.1. NM_001105529.1.
NP_006086.1. NM_006095.2.
UniGeneHs.435052.

3D structure databases

ProteinModelPortalQ9Y2Q0.
SMRQ9Y2Q0. Positions 779-861.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9Y2Q0.

PTM databases

PhosphoSiteQ9Y2Q0.

Polymorphism databases

DMDM8134331.

Proteomic databases

PRIDEQ9Y2Q0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264449; ENSP00000264449; ENSG00000124406.
ENST00000381668; ENSP00000371084; ENSG00000124406.
GeneID10396.
KEGGhsa:10396.
UCSCuc003gwr.2. human.

Organism-specific databases

CTD10396.
GeneCardsGC04M042325.
HGNCHGNC:13531. ATP8A1.
MIM609542. gene.
neXtProtNX_Q9Y2Q0.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00570000078774.
HOGENOMHBG745019.
HOVERGENHBG050601.
InParanoidQ9Y2Q0.
OMAPAIPMAP.
OrthoDBEOG4V9TPV.
PhylomeDBQ9Y2Q0.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9Y2Q0.
BgeeQ9Y2Q0.
CleanExHS_ATP8A1.
GenevestigatorQ9Y2Q0.
GermOnlineENSG00000124406. Homo sapiens.

Family and domain databases

InterProIPR023306. ATPase_cation_domN.
IPR008250. ATPase_P-typ_ATPase-assoc-dom.
IPR023300. ATPase_P-typ_cyto_domA.
IPR023299. ATPase_P-typ_cyto_domN.
IPR001757. ATPase_P-typ_ion-transptr.
IPR018303. ATPase_P-typ_P_site.
IPR006539. ATPase_P-typ_Plipid-transl.
IPR023214. HAD-like_dom.
[Graphical view]
Gene3DG3DSA:2.70.150.10. ATPase_P-typ_cyto_domA. 2 hits.
G3DSA:3.40.1110.10. ATPase_P-typ_cyto_domN. 1 hit.
G3DSA:3.40.50.1000. HAD-like_dom. 2 hits.
KOK14802.
PfamPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
PRINTSPR00119. CATATPASE.
SUPFAMSSF81660. ATPase_cation_domN. 1 hit.
SSF56784. HAD-like_dom. 1 hit.
TIGRFAMsTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 3 hits.
PROSITEPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

DrugBankDB00144. Phosphatidylserine.
NextBio39390.
SOURCESearch...

Entry information

Entry nameAT8A1_HUMAN
AccessionPrimary (citable) accession number: Q9Y2Q0
Secondary accession number(s): Q32M36, Q4W5J7, Q4W5P2
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: January 25, 2012
This is version 108 of the entry and version 1 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

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families