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Protein

Probable phospholipid-transporting ATPase VA

Gene

ATP10A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).Curated

Catalytic activityi

ATP + H2O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei4274-aspartylphosphate intermediateBy similarity1
Metal bindingi1031MagnesiumBy similarity1
Metal bindingi1035MagnesiumBy similarity1

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • magnesium ion binding Source: InterPro
  • phospholipid-translocating ATPase activity Source: UniProtKB

GO - Biological processi

  • ion transmembrane transport Source: Reactome
  • phospholipid translocation Source: UniProtKB
  • regulation of cell shape Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid transport, Transport

Keywords - Ligandi

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS03738-MONOMER.
BRENDAi3.6.3.1. 2681.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable phospholipid-transporting ATPase VA (EC:3.6.3.1)
Alternative name(s):
ATPase class V type 10A
Aminophospholipid translocase VA
P4-ATPase flippase complex alpha subunit ATP10A
Gene namesi
Name:ATP10A
Synonyms:ATP10C, ATPVA, ATPVC, KIAA0566
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:13542. ATP10A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 86CytoplasmicSequence analysisAdd BLAST86
Transmembranei87 – 106HelicalSequence analysisAdd BLAST20
Topological domaini107 – 110Exoplasmic loopSequence analysis4
Transmembranei111 – 128HelicalSequence analysisAdd BLAST18
Topological domaini129 – 309CytoplasmicSequence analysisAdd BLAST181
Transmembranei310 – 332HelicalSequence analysisAdd BLAST23
Topological domaini333 – 362Exoplasmic loopSequence analysisAdd BLAST30
Transmembranei363 – 384HelicalSequence analysisAdd BLAST22
Topological domaini385 – 1087CytoplasmicSequence analysisAdd BLAST703
Transmembranei1088 – 1108HelicalSequence analysisAdd BLAST21
Topological domaini1109 – 1119Exoplasmic loopSequence analysisAdd BLAST11
Transmembranei1120 – 1140HelicalSequence analysisAdd BLAST21
Topological domaini1141 – 1170CytoplasmicSequence analysisAdd BLAST30
Transmembranei1171 – 1192HelicalSequence analysisAdd BLAST22
Topological domaini1193 – 1199Exoplasmic loopSequence analysis7
Transmembranei1200 – 1222HelicalSequence analysisAdd BLAST23
Topological domaini1223 – 1228CytoplasmicSequence analysis6
Transmembranei1229 – 1249HelicalSequence analysisAdd BLAST21
Topological domaini1250 – 1267Exoplasmic loopSequence analysisAdd BLAST18
Transmembranei1268 – 1292HelicalSequence analysisAdd BLAST25
Topological domaini1293 – 1499CytoplasmicSequence analysisAdd BLAST207

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB
  • plasma membrane Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Angelman syndrome (AS)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.
See also OMIM:105830

Organism-specific databases

DisGeNETi57194.
MalaCardsiATP10A.
MIMi105830. phenotype.
OpenTargetsiENSG00000206190.
Orphaneti72. Angelman syndrome.
PharmGKBiPA25097.

Polymorphism and mutation databases

BioMutaiATP10A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000463791 – 1499Probable phospholipid-transporting ATPase VAAdd BLAST1499

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei466PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO60312.
PeptideAtlasiO60312.
PRIDEiO60312.

PTM databases

iPTMnetiO60312.
PhosphoSitePlusiO60312.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.

Gene expression databases

BgeeiENSG00000206190.
CleanExiHS_ATP10A.
ExpressionAtlasiO60312. baseline and differential.
GenevisibleiO60312. HS.

Organism-specific databases

HPAiHPA041496.
HPA042509.

Interactioni

Subunit structurei

Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit.Curated

Protein-protein interaction databases

BioGridi121443. 1 interactor.
STRINGi9606.ENSP00000349325.

Structurei

3D structure databases

ProteinModelPortaliO60312.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi467 – 470Poly-Glu4

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0206. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00860000133712.
HOGENOMiHOG000202528.
HOVERGENiHBG107129.
InParanoidiO60312.
KOiK01530.
OMAiWRYQEKK.
OrthoDBiEOG091G0139.
PhylomeDBiO60312.
TreeFamiTF354252.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 3 hits.
3.40.50.1000. 2 hits.
InterProiIPR030357. ATP10A/ATP10C.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006539. P-type_ATPase_IV.
IPR032631. P-type_ATPase_N.
IPR001757. P_typ_ATPase.
IPR032630. P_typ_ATPase_c.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 3 hits.
PTHR24092:SF81. PTHR24092:SF81. 3 hits.
PfamiPF00122. E1-E2_ATPase. 1 hit.
PF16212. PhoLip_ATPase_C. 1 hit.
PF16209. PhoLip_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 2 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01652. ATPase-Plipid. 2 hits.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60312-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MEREPAGTEE PGPPGRRRRR EGRTRTVRSN LLPPPGAEDP AAGAAKGERR
60 70 80 90 100
RRRGCAQHLA DNRLKTTKYT LLSFLPKNLF EQFHRPANVY FVFIALLNFV
110 120 130 140 150
PAVNAFQPGL ALAPVLFILA ITAFRDLWED YSRHRSDHKI NHLGCLVFSR
160 170 180 190 200
EEKKYVNRFW KEIHVGDFVR LRCNEIFPAD ILLLSSSDPD GLCHIETANL
210 220 230 240 250
DGETNLKRRQ VVRGFSELVS EFNPLTFTSV IECEKPNNDL SRFRGCIIHD
260 270 280 290 300
NGKKAGLYKE NLLLRGCTLR NTDAVVGIVI YAGHETKALL NNSGPRYKRS
310 320 330 340 350
KLERQMNCDV LWCVLLLVCM SLFSAVGHGL WIWRYQEKKS LFYVPKSDGS
360 370 380 390 400
SLSPVTAAVY SFLTMIIVLQ VLIPISLYVS IEIVKACQVY FINQDMQLYD
410 420 430 440 450
EETDSQLQCR ALNITEDLGQ IQYIFSDKTG TLTENKMVFR RCTVSGVEYS
460 470 480 490 500
HDANAQRLAR YQEADSEEEE VVPRGGSVSQ RGSIGSHQSV RVVHRTQSTK
510 520 530 540 550
SHRRTGSRAE AKRASMLSKH TAFSSPMEKD ITPDPKLLEK VSECDKSLAV
560 570 580 590 600
ARHQEHLLAH LSPELSDVFD FFIALTICNT VVVTSPDQPR TKVRVRFELK
610 620 630 640 650
SPVKTIEDFL RRFTPSCLTS GCSSIGSLAA NKSSHKLGSS FPSTPSSDGM
660 670 680 690 700
LLRLEERLGQ PTSAIASNGY SSQADNWASE LAQEQESERE LRYEAESPDE
710 720 730 740 750
AALVYAARAY NCVLVERLHD QVSVELPHLG RLTFELLHTL GFDSVRKRMS
760 770 780 790 800
VVIRHPLTDE INVYTKGADS VVMDLLQPCS SVDARGRHQK KIRSKTQNYL
810 820 830 840 850
NVYAAEGLRT LCIAKRVLSK EEYACWLQSH LEAESSLENS EELLFQSAIR
860 870 880 890 900
LETNLHLLGA TGIEDRLQDG VPETISKLRQ AGLQIWVLTG DKQETAVNIA
910 920 930 940 950
YACKLLDHDE EVITLNATSQ EACAALLDQC LCYVQSRGLQ RAPEKTKGKV
960 970 980 990 1000
SMRFSSLCPP STSTASGRRP SLVIDGRSLA YALEKNLEDK FLFLAKQCRS
1010 1020 1030 1040 1050
VLCCRSTPLQ KSMVVKLVRS KLKAMTLAIG DGANDVSMIQ VADVGVGISG
1060 1070 1080 1090 1100
QEGMQAVMAS DFAVPKFRYL ERLLILHGHW CYSRLANMVL YFFYKNTMFV
1110 1120 1130 1140 1150
GLLFWFQFFC GFSASTMIDQ WYLIFFNLLF SSLPPLVTGV LDRDVPANVL
1160 1170 1180 1190 1200
LTNPQLYKSG QNMEEYRPRT FWFNMADAAF QSLVCFSIPY LAYYDSNVDL
1210 1220 1230 1240 1250
FTWGTPIVTI ALLTFLLHLG IETKTWTWLN WITCGFSVLL FFTVALIYNA
1260 1270 1280 1290 1300
SCATCYPPSN PYWTMQALLG DPVFYLTCLM TPVAALLPRL FFRSLQGRVF
1310 1320 1330 1340 1350
PTQLQLARQL TRKSPRRCSA PKETFAQGRL PKDSGTEHSS GRTVKTSVPL
1360 1370 1380 1390 1400
SQPSWHTQQP VCSLEASGEP STVDMSMPVR EHTLLEGLSA PAPMSSAPGE
1410 1420 1430 1440 1450
AVLRSPGGCP EESKVRAAST GRVTPLSSLF SLPTFSLLNW ISSWSLVSRL
1460 1470 1480 1490
GSVLQFSRTE QLADGQAGRG LPVQPHSGRS GLQGPDHRLL IGASSRRSQ
Length:1,499
Mass (Da):167,688
Last modified:August 13, 2002 - v2
Checksum:iD4996A4D0635A68D
GO
Isoform 2 (identifier: O60312-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-155: REEKKY → SRSHLK
     156-1499: Missing.

Note: No experimental confirmation available.
Show »
Length:155
Mass (Da):17,610
Checksum:i687DF574B01D70F2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti388Q → R in BAA25492 (PubMed:9628581).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048380353S → Y.Corresponds to variant rs17116056dbSNPEnsembl.1
Natural variantiVAR_061038504R → H.Corresponds to variant rs56724944dbSNPEnsembl.1
Natural variantiVAR_022004532T → M.Corresponds to variant rs2066703dbSNPEnsembl.1
Natural variantiVAR_022005784A → T.Corresponds to variant rs2066704dbSNPEnsembl.1
Natural variantiVAR_048381834E → K.Corresponds to variant rs17555920dbSNPEnsembl.1
Natural variantiVAR_0220061172W → C.Corresponds to variant rs2076742dbSNPEnsembl.1
Natural variantiVAR_0220071179A → T.Corresponds to variant rs2076744dbSNPEnsembl.1
Natural variantiVAR_0220081188I → V.Corresponds to variant rs2076745dbSNPEnsembl.1
Natural variantiVAR_0483821198V → M.Corresponds to variant rs2076746dbSNPEnsembl.1
Natural variantiVAR_0220091298R → S.Corresponds to variant rs3816800dbSNPEnsembl.1
Natural variantiVAR_0483831397A → V.Corresponds to variant rs9324127dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056604150 – 155REEKKY → SRSHLK in isoform 2. 1 Publication6
Alternative sequenceiVSP_056605156 – 1499Missing in isoform 2. 1 PublicationAdd BLAST1344

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051358 mRNA. Translation: BAB47392.1.
AY029504
, AY029487, AY029488, AY029489, AY029490, AY029491, AY029492, AY029493, AY029494, AY029495, AY029496, AY029497, AY029498, AY029499, AY029500, AY029501, AY029502, AY029503 Genomic DNA. Translation: AAK33100.1.
AC016266 Genomic DNA. No translation available.
AC023449 Genomic DNA. No translation available.
AC109512 Genomic DNA. No translation available.
BC052251 mRNA. Translation: AAH52251.1.
BC038712 mRNA. Translation: AAH38712.1.
AB011138 mRNA. Translation: BAA25492.1.
CCDSiCCDS32178.1. [O60312-1]
RefSeqiNP_077816.1. NM_024490.3. [O60312-1]
XP_005268318.1. XM_005268261.4. [O60312-1]
XP_011520128.1. XM_011521826.2. [O60312-1]
UniGeneiHs.638517.
Hs.659258.

Genome annotation databases

EnsembliENST00000356865; ENSP00000349325; ENSG00000206190. [O60312-1]
ENST00000389967; ENSP00000374617; ENSG00000206190. [O60312-2]
ENST00000619904; ENSP00000480665; ENSG00000206190. [O60312-2]
GeneIDi57194.
KEGGihsa:57194.
UCSCiuc001zax.4. human. [O60312-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051358 mRNA. Translation: BAB47392.1.
AY029504
, AY029487, AY029488, AY029489, AY029490, AY029491, AY029492, AY029493, AY029494, AY029495, AY029496, AY029497, AY029498, AY029499, AY029500, AY029501, AY029502, AY029503 Genomic DNA. Translation: AAK33100.1.
AC016266 Genomic DNA. No translation available.
AC023449 Genomic DNA. No translation available.
AC109512 Genomic DNA. No translation available.
BC052251 mRNA. Translation: AAH52251.1.
BC038712 mRNA. Translation: AAH38712.1.
AB011138 mRNA. Translation: BAA25492.1.
CCDSiCCDS32178.1. [O60312-1]
RefSeqiNP_077816.1. NM_024490.3. [O60312-1]
XP_005268318.1. XM_005268261.4. [O60312-1]
XP_011520128.1. XM_011521826.2. [O60312-1]
UniGeneiHs.638517.
Hs.659258.

3D structure databases

ProteinModelPortaliO60312.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121443. 1 interactor.
STRINGi9606.ENSP00000349325.

PTM databases

iPTMnetiO60312.
PhosphoSitePlusiO60312.

Polymorphism and mutation databases

BioMutaiATP10A.

Proteomic databases

PaxDbiO60312.
PeptideAtlasiO60312.
PRIDEiO60312.

Protocols and materials databases

DNASUi57194.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356865; ENSP00000349325; ENSG00000206190. [O60312-1]
ENST00000389967; ENSP00000374617; ENSG00000206190. [O60312-2]
ENST00000619904; ENSP00000480665; ENSG00000206190. [O60312-2]
GeneIDi57194.
KEGGihsa:57194.
UCSCiuc001zax.4. human. [O60312-1]

Organism-specific databases

CTDi57194.
DisGeNETi57194.
GeneCardsiATP10A.
GeneReviewsiATP10A.
HGNCiHGNC:13542. ATP10A.
HPAiHPA041496.
HPA042509.
MalaCardsiATP10A.
MIMi105830. phenotype.
605855. gene.
neXtProtiNX_O60312.
OpenTargetsiENSG00000206190.
Orphaneti72. Angelman syndrome.
PharmGKBiPA25097.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0206. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00860000133712.
HOGENOMiHOG000202528.
HOVERGENiHBG107129.
InParanoidiO60312.
KOiK01530.
OMAiWRYQEKK.
OrthoDBiEOG091G0139.
PhylomeDBiO60312.
TreeFamiTF354252.

Enzyme and pathway databases

BioCyciZFISH:HS03738-MONOMER.
BRENDAi3.6.3.1. 2681.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

GeneWikiiATP10A.
GenomeRNAii57194.
PROiO60312.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000206190.
CleanExiHS_ATP10A.
ExpressionAtlasiO60312. baseline and differential.
GenevisibleiO60312. HS.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 3 hits.
3.40.50.1000. 2 hits.
InterProiIPR030357. ATP10A/ATP10C.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006539. P-type_ATPase_IV.
IPR032631. P-type_ATPase_N.
IPR001757. P_typ_ATPase.
IPR032630. P_typ_ATPase_c.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 3 hits.
PTHR24092:SF81. PTHR24092:SF81. 3 hits.
PfamiPF00122. E1-E2_ATPase. 1 hit.
PF16212. PhoLip_ATPase_C. 1 hit.
PF16209. PhoLip_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 2 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01652. ATPase-Plipid. 2 hits.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT10A_HUMAN
AccessioniPrimary (citable) accession number: O60312
Secondary accession number(s): Q4G0S9, Q969I4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 13, 2002
Last modified: November 30, 2016
This is version 166 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.