Probable phospholipid-transporting ATPase VA

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O60312 (AT10A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 131. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Probable phospholipid-transporting ATPase VA
EC=3.6.3.1

Alternative name(s):
ATPase class V type 10A
Aminophospholipid translocase VA

Gene names

Name:	ATP10A
Synonyms:	ATP10C, ATPVA, ATPVC, KIAA0566

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1499 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Catalytic activity	ATP + H₂O + phospholipid(side 1) = ADP + phosphate + phospholipid(side 2).
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]

Ontologies

Keywords
Cellular component	Cell membrane Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ion transmembrane transport Traceable author statement. Source: Reactome phospholipid translocation Non-traceable author statement Ref.5. Source: UniProtKB regulation of cell shape Non-traceable author statement Ref.2. Source: UniProtKB
Cellular_component	endoplasmic reticulum Inferred from direct assay Ref.5. Source: UniProtKB endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Non-traceable author statement Ref.2. Source: UniProtKB plasma membrane Traceable author statement. Source: Reactome
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW cation-transporting ATPase activity Inferred from electronic annotation. Source: InterPro magnesium ion binding Inferred from electronic annotation. Source: InterPro phospholipid-translocating ATPase activity Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1499

1499

Probable phospholipid-transporting ATPase VA

PRO_0000046379

Regions

Topological domain

1 – 86

Cytoplasmic Potential

Transmembrane

87 – 106

Helical; Potential

Topological domain

107 – 110

Extracellular Potential

Transmembrane

111 – 128

Helical; Potential

Topological domain

129 – 309

181

Cytoplasmic Potential

Transmembrane

310 – 332

Helical; Potential

Topological domain

333 – 362

Extracellular Potential

Transmembrane

363 – 384

Helical; Potential

Topological domain

385 – 1087

703

Cytoplasmic Potential

Transmembrane

1088 – 1108

Helical; Potential

Topological domain

1109 – 1119

Extracellular Potential

Transmembrane

1120 – 1140

Helical; Potential

Topological domain

1141 – 1170

Cytoplasmic Potential

Transmembrane

1171 – 1192

Helical; Potential

Topological domain

1193 – 1199

Extracellular Potential

Transmembrane

1200 – 1222

Helical; Potential

Topological domain

1223 – 1228

Cytoplasmic Potential

Transmembrane

1229 – 1249

Helical; Potential

Topological domain

1250 – 1267

Extracellular Potential

Transmembrane

1268 – 1292

Helical; Potential

Topological domain

1293 – 1499

207

Cytoplasmic Potential

Compositional bias

467 – 470

Poly-Glu

Sites

Active site

427

4-aspartylphosphate intermediate By similarity

Metal binding

1031

Magnesium By similarity

Metal binding

1035

Magnesium By similarity

Amino acid modifications

Modified residue

646

Phosphoserine By similarity

Natural variations

Natural variant

353

S → Y.
Corresponds to variant rs17116056 [ dbSNP | Ensembl ].

VAR_048380

Natural variant

504

R → H.
Corresponds to variant rs56724944 [ dbSNP | Ensembl ].

VAR_061038

Natural variant

532

T → M.
Corresponds to variant rs2066703 [ dbSNP | Ensembl ].

VAR_022004

Natural variant

784

A → T.
Corresponds to variant rs2066704 [ dbSNP | Ensembl ].

VAR_022005

Natural variant

834

E → K.
Corresponds to variant rs17555920 [ dbSNP | Ensembl ].

VAR_048381

Natural variant

1172

W → C.
Corresponds to variant rs2076742 [ dbSNP | Ensembl ].

VAR_022006

Natural variant

1179

A → T.
Corresponds to variant rs2076744 [ dbSNP | Ensembl ].

VAR_022007

Natural variant

1188

I → V.
Corresponds to variant rs2076745 [ dbSNP | Ensembl ].

VAR_022008

Natural variant

1198

V → M.
Corresponds to variant rs2076746 [ dbSNP | Ensembl ].

VAR_048382

Natural variant

1298

R → S.
Corresponds to variant rs3816800 [ dbSNP | Ensembl ].

VAR_022009

Natural variant

1397

A → V.
Corresponds to variant rs9324127 [ dbSNP | Ensembl ].

VAR_048383

Experimental info

Sequence conflict

388

Q → R in BAA25492. Ref.4

Sequences

Sequence

Length

Mass (Da)

Tools

O60312 [UniParc].

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

FASTA

1,499

167,688

        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' referencesShow '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 AY029503 Genomic DNA. Translation: AAK33100.1. BC052251 mRNA. Translation: AAH52251.1. AB011138 mRNA. Translation: BAA25492.1.
IPI	IPI00783442.
RefSeq	NP_077816.1. NM_024490.3.
UniGene	Hs.659258.
3D structure databases
ProteinModelPortal	O60312.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000349325.
PTM databases
PhosphoSite	O60312.
Proteomic databases
PaxDb	O60312.
PRIDE	O60312.
Protocols and materials databases
DNASU	57194.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356865; ENSP00000349325; ENSG00000206190.
GeneID	57194.
KEGG	hsa:57194.
UCSC	uc010ayu.3. human.
Organism-specific databases
CTD	57194.
GeneCards	GC15M025923.
HGNC	HGNC:13542. ATP10A.
HPA	HPA041496. HPA042509.
MIM	105830. phenotype. 605855. gene.
neXtProt	NX_O60312.
Orphanet	72. Angelman syndrome.
PharmGKB	PA25097.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0474.
HOGENOM	HOG000202528.
HOVERGEN	HBG107129.
InParanoid	O60312.
KO	K01530.
OMA	NGYSSQA.
OrthoDB	EOG4QFWCC.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	O60312.
Bgee	O60312.
CleanEx	HS_ATP10A.
Genevestigator	O60312.
GermOnline	ENSG00000206190. Homo sapiens.
Family and domain databases
Gene3D	2.70.150.10. 2 hits. 3.40.1110.10. 3 hits. 3.40.50.1000. 2 hits.
InterPro	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]
PANTHER	PTHR24092. PTHR24092. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE.
SUPFAM	SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit.
TIGRFAMs	TIGR01652. ATPase-Plipid. 2 hits. TIGR01494. ATPase_P-type. 2 hits.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57194.
NextBio	63284.
SOURCE	Search...

Entry information

Entry name

AT10A_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 131 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.

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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·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents