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Reviewed, UniProtKB/Swiss-Prot Q9Y2Q0 (AT8A1_HUMAN)

Last modified July 22, 2008. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length1164 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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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 + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).

Subcellular location

Cytoplasmic vesicle › secretory vesicle › chromaffin granule membrane; Multi-pass membrane proteinBy 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. The long isoform 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.

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Ontologies

Keywords

   Cellular componentCytoplasmic vesicle
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
   LigandATP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionHydrolase
   PTMPhosphoprotein

Gene Ontology (GO)

   Biological processaminophospholipid transport

Non-traceable author statement. Source: UniProtKB

   Cellular componentintegral to membrane

Non-traceable author statement. Source: UniProtKB

   Molecular functionATP binding

Non-traceable author statement. Source: UniProtKB

aminophospholipid transporter activity

Non-traceable author statement. Source: UniProtKB

cation-transporting ATPase activity Ref.1

Non-traceable author statement. Source: UniProtKB

Complete GO annotation...

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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.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical view

Molecule processing

Chain1 – 11641164Probable phospholipid-transporting ATPase IA

Regions

Topological domain1 – 6565Cytoplasmic Potential
Transmembrane66 – 8621 Potential
Topological domain87 – 926Extracellular Potential
Transmembrane93 – 11523 Potential
Topological domain116 – 297182Cytoplasmic Potential
Transmembrane298 – 31922 Potential
Topological domain320 – 34425Extracellular Potential
Transmembrane345 – 36622 Potential
Topological domain367 – 857491Cytoplasmic Potential
Transmembrane858 – 87821 Potential
Topological domain879 – 89012Extracellular Potential
Transmembrane891 – 91020 Potential
Topological domain911 – 94030Cytoplasmic Potential
Transmembrane941 – 96222 Potential
Topological domain963 – 97614Extracellular Potential
Transmembrane977 – 99923 Potential
Topological domain1000 – 10056Cytoplasmic Potential
Transmembrane1006 – 102621 Potential
Topological domain1027 – 104418Extracellular Potential
Transmembrane1045 – 107026 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 residue251Phosphoserine
Modified residue281Phosphothreonine
Modified residue291Phosphoserine
Modified residue2691Phosphotyrosine By similarity

Natural variations

Alternative sequence433 – 44715Missing in isoform Short.
Natural variant6731T → M: dbSNP rs3792687.

Experimental info

Sequence conflict3641E → K in BAA77248. Ref.2

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Sequences

Sequence LengthMass (Da)Tools
Isoform 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

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Isoform Short [UniParc].

Checksum: DC609CEA87E9F9B1
Show »

1,149129,628

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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 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.

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Cross-references

Sequence databases

AF067820 mRNA. Translation: AAD34706.1.
AB013452 mRNA. Translation: BAA77248.1.
RefSeqNP_006086.1.
UniGeneHs.435052

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ9Y2Q0.

Genome annotation databases

EnsemblENSG00000124406. Homo sapiens. [Contig view]
GeneID10396.

Organism-specific databases

HGNCHGNC:13531. ATP8A1.
MIM609542. gene.
PharmGKBPA25165.
GenAtlasSearch...
GeneCardsSearch...
GeneLynxSearch...

Phylogenomic databases

HOGENOMQ9Y2Q0.
HOVERGENQ9Y2Q0.

Gene expression databases

ArrayExpressQ9Y2Q0.
CleanExHS_ATP8A1.
GermOnlineENSG00000124406. Homo sapiens.

Family and domain databases

InterProIPR001757. ATPase_P.
IPR005834. Dehalogen-like_hydro.
IPR008250. E1-E2_ATPase_reg.
IPR006539. Flippase.
[Graphical view]
PANTHERPTHR11939. ATPase_P. 1 hit.
PfamPF00122. E1-E2_ATPase. 1 hit.
PF00702. Hydrolase. 1 hit.
[Graphical view]
PRINTSPR00119. CATATPASE.
TIGRFAMsTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 4 hits.
PROSITEPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProDomQ9Y2Q0.
[Graphical view] [Entries sharing at least one domain]
BLOCKSSearch...

Other Resources

DrugBankDB00144. Phosphatidylserine.
LinkHubQ9Y2Q0.
SOURCESearch...
ProtoNetSearch...

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Entry information

Entry nameAT8A1_HUMAN
AccessionPrimary (citable) accession number: Q9Y2Q0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: July 22, 2008
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents