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O60312 (AT10A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 141. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ATP10A
Synonyms:ATP10C, ATPVA, ATPVC, KIAA0566
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1499 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Catalytic activity

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

Subunit structure

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

Subcellular location

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. Ref.5

Tissue specificity

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

Involvement in disease

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.

Sequence similarities

Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14991499Probable phospholipid-transporting ATPase VA
PRO_0000046379

Regions

Topological domain1 – 8686Cytoplasmic Potential
Transmembrane87 – 10620Helical; Potential
Topological domain107 – 1104Exoplasmic loop Potential
Transmembrane111 – 12818Helical; Potential
Topological domain129 – 309181Cytoplasmic Potential
Transmembrane310 – 33223Helical; Potential
Topological domain333 – 36230Exoplasmic loop Potential
Transmembrane363 – 38422Helical; Potential
Topological domain385 – 1087703Cytoplasmic Potential
Transmembrane1088 – 110821Helical; Potential
Topological domain1109 – 111911Exoplasmic loop Potential
Transmembrane1120 – 114021Helical; Potential
Topological domain1141 – 117030Cytoplasmic Potential
Transmembrane1171 – 119222Helical; Potential
Topological domain1193 – 11997Exoplasmic loop Potential
Transmembrane1200 – 122223Helical; Potential
Topological domain1223 – 12286Cytoplasmic Potential
Transmembrane1229 – 124921Helical; Potential
Topological domain1250 – 126718Exoplasmic loop Potential
Transmembrane1268 – 129225Helical; Potential
Topological domain1293 – 1499207Cytoplasmic Potential
Compositional bias467 – 4704Poly-Glu

Sites

Active site42714-aspartylphosphate intermediate By similarity
Metal binding10311Magnesium By similarity
Metal binding10351Magnesium By similarity

Natural variations

Natural variant3531S → Y.
Corresponds to variant rs17116056 [ dbSNP | Ensembl ].
VAR_048380
Natural variant5041R → H.
Corresponds to variant rs56724944 [ dbSNP | Ensembl ].
VAR_061038
Natural variant5321T → M.
Corresponds to variant rs2066703 [ dbSNP | Ensembl ].
VAR_022004
Natural variant7841A → T.
Corresponds to variant rs2066704 [ dbSNP | Ensembl ].
VAR_022005
Natural variant8341E → K.
Corresponds to variant rs17555920 [ dbSNP | Ensembl ].
VAR_048381
Natural variant11721W → C.
Corresponds to variant rs2076742 [ dbSNP | Ensembl ].
VAR_022006
Natural variant11791A → T.
Corresponds to variant rs2076744 [ dbSNP | Ensembl ].
VAR_022007
Natural variant11881I → V.
Corresponds to variant rs2076745 [ dbSNP | Ensembl ].
VAR_022008
Natural variant11981V → M.
Corresponds to variant rs2076746 [ dbSNP | Ensembl ].
VAR_048382
Natural variant12981R → S.
Corresponds to variant rs3816800 [ dbSNP | Ensembl ].
VAR_022009
Natural variant13971A → V.
Corresponds to variant rs9324127 [ dbSNP | Ensembl ].
VAR_048383

Experimental info

Sequence conflict3881Q → R in BAA25492. Ref.4

Sequences

Sequence LengthMass (Da)Tools
O60312 [UniParc].

Last modified August 13, 2002. Version 2.
Checksum: D4996A4D0635A68D

FASTA1,499167,688
        10         20         30         40         50         60 
MEREPAGTEE PGPPGRRRRR EGRTRTVRSN LLPPPGAEDP AAGAAKGERR RRRGCAQHLA 

        70         80         90        100        110        120 
DNRLKTTKYT LLSFLPKNLF EQFHRPANVY FVFIALLNFV PAVNAFQPGL ALAPVLFILA 

       130        140        150        160        170        180 
ITAFRDLWED YSRHRSDHKI NHLGCLVFSR EEKKYVNRFW KEIHVGDFVR LRCNEIFPAD 

       190        200        210        220        230        240 
ILLLSSSDPD GLCHIETANL DGETNLKRRQ VVRGFSELVS EFNPLTFTSV IECEKPNNDL 

       250        260        270        280        290        300 
SRFRGCIIHD NGKKAGLYKE NLLLRGCTLR NTDAVVGIVI YAGHETKALL NNSGPRYKRS 

       310        320        330        340        350        360 
KLERQMNCDV LWCVLLLVCM SLFSAVGHGL WIWRYQEKKS LFYVPKSDGS SLSPVTAAVY 

       370        380        390        400        410        420 
SFLTMIIVLQ VLIPISLYVS IEIVKACQVY FINQDMQLYD EETDSQLQCR ALNITEDLGQ 

       430        440        450        460        470        480 
IQYIFSDKTG TLTENKMVFR RCTVSGVEYS HDANAQRLAR YQEADSEEEE VVPRGGSVSQ 

       490        500        510        520        530        540 
RGSIGSHQSV RVVHRTQSTK SHRRTGSRAE AKRASMLSKH TAFSSPMEKD ITPDPKLLEK 

       550        560        570        580        590        600 
VSECDKSLAV ARHQEHLLAH LSPELSDVFD FFIALTICNT VVVTSPDQPR TKVRVRFELK 

       610        620        630        640        650        660 
SPVKTIEDFL RRFTPSCLTS GCSSIGSLAA NKSSHKLGSS FPSTPSSDGM LLRLEERLGQ 

       670        680        690        700        710        720 
PTSAIASNGY SSQADNWASE LAQEQESERE LRYEAESPDE AALVYAARAY NCVLVERLHD 

       730        740        750        760        770        780 
QVSVELPHLG RLTFELLHTL GFDSVRKRMS VVIRHPLTDE INVYTKGADS VVMDLLQPCS 

       790        800        810        820        830        840 
SVDARGRHQK KIRSKTQNYL NVYAAEGLRT LCIAKRVLSK EEYACWLQSH LEAESSLENS 

       850        860        870        880        890        900 
EELLFQSAIR LETNLHLLGA TGIEDRLQDG VPETISKLRQ AGLQIWVLTG DKQETAVNIA 

       910        920        930        940        950        960 
YACKLLDHDE EVITLNATSQ EACAALLDQC LCYVQSRGLQ RAPEKTKGKV SMRFSSLCPP 

       970        980        990       1000       1010       1020 
STSTASGRRP SLVIDGRSLA YALEKNLEDK FLFLAKQCRS VLCCRSTPLQ KSMVVKLVRS 

      1030       1040       1050       1060       1070       1080 
KLKAMTLAIG DGANDVSMIQ VADVGVGISG QEGMQAVMAS DFAVPKFRYL ERLLILHGHW 

      1090       1100       1110       1120       1130       1140 
CYSRLANMVL YFFYKNTMFV GLLFWFQFFC GFSASTMIDQ WYLIFFNLLF SSLPPLVTGV 

      1150       1160       1170       1180       1190       1200 
LDRDVPANVL LTNPQLYKSG QNMEEYRPRT FWFNMADAAF QSLVCFSIPY LAYYDSNVDL 

      1210       1220       1230       1240       1250       1260 
FTWGTPIVTI ALLTFLLHLG IETKTWTWLN WITCGFSVLL FFTVALIYNA SCATCYPPSN 

      1270       1280       1290       1300       1310       1320 
PYWTMQALLG DPVFYLTCLM TPVAALLPRL FFRSLQGRVF PTQLQLARQL TRKSPRRCSA 

      1330       1340       1350       1360       1370       1380 
PKETFAQGRL PKDSGTEHSS GRTVKTSVPL SQPSWHTQQP VCSLEASGEP STVDMSMPVR 

      1390       1400       1410       1420       1430       1440 
EHTLLEGLSA PAPMSSAPGE AVLRSPGGCP EESKVRAAST GRVTPLSSLF SLPTFSLLNW 

      1450       1460       1470       1480       1490 
ISSWSLVSRL GSVLQFSRTE QLADGQAGRG LPVQPHSGRS GLQGPDHRLL IGASSRRSQ 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB051358 mRNA. Translation: BAB47392.1.
AY029504 expand/collapse EMBL AC list , 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.
CCDSCCDS32178.1.
RefSeqNP_077816.1. NM_024490.3.
XP_005268318.1. XM_005268261.2.
UniGeneHs.659258.

3D structure databases

ProteinModelPortalO60312.
SMRO60312. Positions 1010-1066.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000349325.

PTM databases

PhosphoSiteO60312.

Proteomic databases

PaxDbO60312.
PRIDEO60312.

Protocols and materials databases

DNASU57194.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356865; ENSP00000349325; ENSG00000206190.
GeneID57194.
KEGGhsa:57194.
UCSCuc010ayu.3. human.

Organism-specific databases

CTD57194.
GeneCardsGC15M025923.
GeneReviewsATP10A.
HGNCHGNC:13542. ATP10A.
HPAHPA041496.
HPA042509.
MIM105830. phenotype.
605855. gene.
neXtProtNX_O60312.
Orphanet72. Angelman syndrome.
PharmGKBPA25097.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0474.
HOGENOMHOG000202528.
HOVERGENHBG107129.
InParanoidO60312.
KOK01530.
OMAWRYQEKK.
OrthoDBEOG76471S.
PhylomeDBO60312.
TreeFamTF354252.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO60312.
BgeeO60312.
CleanExHS_ATP10A.
GenevestigatorO60312.

Family and domain databases

Gene3D2.70.150.10. 2 hits.
3.40.1110.10. 3 hits.
3.40.50.1000. 2 hits.
InterProIPR023299. 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]
PANTHERPTHR24092. PTHR24092. 1 hit.
PfamPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
PRINTSPR00119. CATATPASE.
SUPFAMSSF56784. SSF56784. 2 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsTIGR01652. ATPase-Plipid. 2 hits.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiATP10A.
GenomeRNAi57194.
NextBio63284.
PROO60312.
SOURCESearch...

Entry information

Entry nameAT10A_HUMAN
AccessionPrimary (citable) accession number: O60312
Secondary accession number(s): Q969I4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 13, 2002
Last modified: July 9, 2014
This is version 141 of the entry and version 2 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM