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O60312

- AT10A_HUMAN

UniProt

O60312 - AT10A_HUMAN

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Protein
Probable phospholipid-transporting ATPase VA
Gene
ATP10A, ATP10C, ATPVA, ATPVC, KIAA0566
Organism
Homo sapiens (Human)
Status
Reviewed - 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 Inferred.

Catalytic activityi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei427 – 42714-aspartylphosphate intermediate By similarity
Metal bindingi1031 – 10311Magnesium By similarity
Metal bindingi1035 – 10351Magnesium By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. cation-transporting ATPase activity Source: InterPro
  3. magnesium ion binding Source: InterPro
  4. phospholipid-translocating ATPase activity Source: UniProtKB
  5. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. ion transmembrane transport Source: Reactome
  2. phospholipid translocation Source: UniProtKB
  3. regulation of cell shape Source: UniProtKB
  4. transmembrane transport Source: Reactome
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

ReactomeiREACT_25149. 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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:13542. ATP10A.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane
Note: Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8686Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei87 – 10620Helical; Reviewed prediction
Add
BLAST
Topological domaini107 – 1104Exoplasmic loop Reviewed prediction
Transmembranei111 – 12818Helical; Reviewed prediction
Add
BLAST
Topological domaini129 – 309181Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei310 – 33223Helical; Reviewed prediction
Add
BLAST
Topological domaini333 – 36230Exoplasmic loop Reviewed prediction
Add
BLAST
Transmembranei363 – 38422Helical; Reviewed prediction
Add
BLAST
Topological domaini385 – 1087703Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1088 – 110821Helical; Reviewed prediction
Add
BLAST
Topological domaini1109 – 111911Exoplasmic loop Reviewed prediction
Add
BLAST
Transmembranei1120 – 114021Helical; Reviewed prediction
Add
BLAST
Topological domaini1141 – 117030Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1171 – 119222Helical; Reviewed prediction
Add
BLAST
Topological domaini1193 – 11997Exoplasmic loop Reviewed prediction
Transmembranei1200 – 122223Helical; Reviewed prediction
Add
BLAST
Topological domaini1223 – 12286Cytoplasmic Reviewed prediction
Transmembranei1229 – 124921Helical; Reviewed prediction
Add
BLAST
Topological domaini1250 – 126718Exoplasmic loop Reviewed prediction
Add
BLAST
Transmembranei1268 – 129225Helical; Reviewed prediction
Add
BLAST
Topological domaini1293 – 1499207Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  3. integral component of membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Angelman syndrome (AS) [MIM:105830]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi105830. phenotype.
Orphaneti72. Angelman syndrome.
PharmGKBiPA25097.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14991499Probable phospholipid-transporting ATPase VA
PRO_0000046379Add
BLAST

Proteomic databases

PaxDbiO60312.
PRIDEiO60312.

PTM databases

PhosphoSiteiO60312.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiO60312.
BgeeiO60312.
CleanExiHS_ATP10A.
GenevestigatoriO60312.

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 Inferred.

Protein-protein interaction databases

STRINGi9606.ENSP00000349325.

Structurei

3D structure databases

ProteinModelPortaliO60312.
SMRiO60312. Positions 1010-1066.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi467 – 4704Poly-Glu

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0474.
HOGENOMiHOG000202528.
HOVERGENiHBG107129.
InParanoidiO60312.
KOiK01530.
OMAiWRYQEKK.
OrthoDBiEOG76471S.
PhylomeDBiO60312.
TreeFamiTF354252.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 3 hits.
3.40.50.1000. 2 hits.
InterProiIPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR006539. ATPase_P-typ_Plipid-transp.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 1 hit.
PfamiPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
PRINTSiPR00119. CATATPASE.
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]

Sequencei

Sequence statusi: Complete.

O60312-1 [UniParc]FASTAAdd to Basket

« Hide

MEREPAGTEE PGPPGRRRRR EGRTRTVRSN LLPPPGAEDP AAGAAKGERR     50
RRRGCAQHLA DNRLKTTKYT LLSFLPKNLF EQFHRPANVY FVFIALLNFV 100
PAVNAFQPGL ALAPVLFILA ITAFRDLWED YSRHRSDHKI NHLGCLVFSR 150
EEKKYVNRFW KEIHVGDFVR LRCNEIFPAD ILLLSSSDPD GLCHIETANL 200
DGETNLKRRQ VVRGFSELVS EFNPLTFTSV IECEKPNNDL SRFRGCIIHD 250
NGKKAGLYKE NLLLRGCTLR NTDAVVGIVI YAGHETKALL NNSGPRYKRS 300
KLERQMNCDV LWCVLLLVCM SLFSAVGHGL WIWRYQEKKS LFYVPKSDGS 350
SLSPVTAAVY SFLTMIIVLQ VLIPISLYVS IEIVKACQVY FINQDMQLYD 400
EETDSQLQCR ALNITEDLGQ IQYIFSDKTG TLTENKMVFR RCTVSGVEYS 450
HDANAQRLAR YQEADSEEEE VVPRGGSVSQ RGSIGSHQSV RVVHRTQSTK 500
SHRRTGSRAE AKRASMLSKH TAFSSPMEKD ITPDPKLLEK VSECDKSLAV 550
ARHQEHLLAH LSPELSDVFD FFIALTICNT VVVTSPDQPR TKVRVRFELK 600
SPVKTIEDFL RRFTPSCLTS GCSSIGSLAA NKSSHKLGSS FPSTPSSDGM 650
LLRLEERLGQ PTSAIASNGY SSQADNWASE LAQEQESERE LRYEAESPDE 700
AALVYAARAY NCVLVERLHD QVSVELPHLG RLTFELLHTL GFDSVRKRMS 750
VVIRHPLTDE INVYTKGADS VVMDLLQPCS SVDARGRHQK KIRSKTQNYL 800
NVYAAEGLRT LCIAKRVLSK EEYACWLQSH LEAESSLENS EELLFQSAIR 850
LETNLHLLGA TGIEDRLQDG VPETISKLRQ AGLQIWVLTG DKQETAVNIA 900
YACKLLDHDE EVITLNATSQ EACAALLDQC LCYVQSRGLQ RAPEKTKGKV 950
SMRFSSLCPP STSTASGRRP SLVIDGRSLA YALEKNLEDK FLFLAKQCRS 1000
VLCCRSTPLQ KSMVVKLVRS KLKAMTLAIG DGANDVSMIQ VADVGVGISG 1050
QEGMQAVMAS DFAVPKFRYL ERLLILHGHW CYSRLANMVL YFFYKNTMFV 1100
GLLFWFQFFC GFSASTMIDQ WYLIFFNLLF SSLPPLVTGV LDRDVPANVL 1150
LTNPQLYKSG QNMEEYRPRT FWFNMADAAF QSLVCFSIPY LAYYDSNVDL 1200
FTWGTPIVTI ALLTFLLHLG IETKTWTWLN WITCGFSVLL FFTVALIYNA 1250
SCATCYPPSN PYWTMQALLG DPVFYLTCLM TPVAALLPRL FFRSLQGRVF 1300
PTQLQLARQL TRKSPRRCSA PKETFAQGRL PKDSGTEHSS GRTVKTSVPL 1350
SQPSWHTQQP VCSLEASGEP STVDMSMPVR EHTLLEGLSA PAPMSSAPGE 1400
AVLRSPGGCP EESKVRAAST GRVTPLSSLF SLPTFSLLNW ISSWSLVSRL 1450
GSVLQFSRTE QLADGQAGRG LPVQPHSGRS GLQGPDHRLL IGASSRRSQ 1499
Length:1,499
Mass (Da):167,688
Last modified:August 13, 2002 - v2
Checksum:iD4996A4D0635A68D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti353 – 3531S → Y.
Corresponds to variant rs17116056 [ dbSNP | Ensembl ].
VAR_048380
Natural varianti504 – 5041R → H.
Corresponds to variant rs56724944 [ dbSNP | Ensembl ].
VAR_061038
Natural varianti532 – 5321T → M.
Corresponds to variant rs2066703 [ dbSNP | Ensembl ].
VAR_022004
Natural varianti784 – 7841A → T.
Corresponds to variant rs2066704 [ dbSNP | Ensembl ].
VAR_022005
Natural varianti834 – 8341E → K.
Corresponds to variant rs17555920 [ dbSNP | Ensembl ].
VAR_048381
Natural varianti1172 – 11721W → C.
Corresponds to variant rs2076742 [ dbSNP | Ensembl ].
VAR_022006
Natural varianti1179 – 11791A → T.
Corresponds to variant rs2076744 [ dbSNP | Ensembl ].
VAR_022007
Natural varianti1188 – 11881I → V.
Corresponds to variant rs2076745 [ dbSNP | Ensembl ].
VAR_022008
Natural varianti1198 – 11981V → M.
Corresponds to variant rs2076746 [ dbSNP | Ensembl ].
VAR_048382
Natural varianti1298 – 12981R → S.
Corresponds to variant rs3816800 [ dbSNP | Ensembl ].
VAR_022009
Natural varianti1397 – 13971A → V.
Corresponds to variant rs9324127 [ dbSNP | Ensembl ].
VAR_048383

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti388 – 3881Q → R in BAA25492. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
BC052251 mRNA. Translation: AAH52251.1.
AB011138 mRNA. Translation: BAA25492.1.
CCDSiCCDS32178.1.
RefSeqiNP_077816.1. NM_024490.3.
XP_005268318.1. XM_005268261.2.
UniGeneiHs.659258.

Genome annotation databases

EnsembliENST00000356865; ENSP00000349325; ENSG00000206190.
GeneIDi57194.
KEGGihsa:57194.
UCSCiuc010ayu.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
BC052251 mRNA. Translation: AAH52251.1 .
AB011138 mRNA. Translation: BAA25492.1 .
CCDSi CCDS32178.1.
RefSeqi NP_077816.1. NM_024490.3.
XP_005268318.1. XM_005268261.2.
UniGenei Hs.659258.

3D structure databases

ProteinModelPortali O60312.
SMRi O60312. Positions 1010-1066.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000349325.

PTM databases

PhosphoSitei O60312.

Proteomic databases

PaxDbi O60312.
PRIDEi O60312.

Protocols and materials databases

DNASUi 57194.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356865 ; ENSP00000349325 ; ENSG00000206190 .
GeneIDi 57194.
KEGGi hsa:57194.
UCSCi uc010ayu.3. human.

Organism-specific databases

CTDi 57194.
GeneCardsi GC15M025923.
GeneReviewsi ATP10A.
HGNCi HGNC:13542. ATP10A.
HPAi HPA041496.
HPA042509.
MIMi 105830. phenotype.
605855. gene.
neXtProti NX_O60312.
Orphaneti 72. Angelman syndrome.
PharmGKBi PA25097.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0474.
HOGENOMi HOG000202528.
HOVERGENi HBG107129.
InParanoidi O60312.
KOi K01530.
OMAi WRYQEKK.
OrthoDBi EOG76471S.
PhylomeDBi O60312.
TreeFami TF354252.

Enzyme and pathway databases

Reactomei REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

GeneWikii ATP10A.
GenomeRNAii 57194.
NextBioi 63284.
PROi O60312.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60312.
Bgeei O60312.
CleanExi HS_ATP10A.
Genevestigatori O60312.

Family and domain databases

Gene3Di 2.70.150.10. 2 hits.
3.40.1110.10. 3 hits.
3.40.50.1000. 2 hits.
InterProi IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR006539. ATPase_P-typ_Plipid-transp.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view ]
PANTHERi PTHR24092. PTHR24092. 1 hit.
Pfami PF00122. E1-E2_ATPase. 1 hit.
[Graphical view ]
PRINTSi PR00119. CATATPASE.
SUPFAMi SSF56784. SSF56784. 2 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsi TIGR01652. ATPase-Plipid. 2 hits.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome."
    Meguro M., Kashiwagi A., Mitsuya K., Nakao M., Kondo I., Saitoh S., Oshimura M.
    Nat. Genet. 28:19-20(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression."
    Herzing L.B.K., Kim S.-J., Cook E.H. Jr., Ledbetter D.H.
    Am. J. Hum. Genet. 68:1501-1505(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  4. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 337-1499.
    Tissue: Brain.
  5. "ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner."
    Takatsu H., Baba K., Shima T., Umino H., Kato U., Umeda M., Nakayama K., Shin H.W.
    J. Biol. Chem. 286:38159-38167(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.

Entry informationi

Entry nameiAT10A_HUMAN
AccessioniPrimary (citable) accession number: O60312
Secondary accession number(s): Q969I4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 13, 2002
Last modified: September 3, 2014
This is version 142 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

External Data

Dasty 3

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