Reviewed, UniProtKB/Swiss-Prot O60312 (AT10A_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable phospholipid-transporting ATPase VA
      Short name=ATPVA
    EC=3.6.3.1
Alternative name(s):
    ATPase class V type 10A
    Aminophospholipid translocase VA

Gene names

Name:	ATP10A
Synonyms:	ATP10C, ATPVC, KIAA0566

Organism

Homo sapiens (Human) [Complete 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.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	ATP + H2O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
Subcellular location	Membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.
Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR By similarity.
Involvement in disease	Defects in ATP10A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove.
Sequence similarities	Belongs to the cation transport ATPase (P-type) family. Type IV subfamily.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ATP biosynthetic process Inferred from electronic annotation. Source: InterPro phospholipid transport Inferred from electronic annotation. Source: InterPro regulation of cell shape Ref.2 Non-traceable author statement. Source: UniProtKB
Cellular component	integral to membrane Ref.2 Non-traceable author statement. Source: UniProtKB
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism Inferred from electronic annotation. Source: InterPro magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW phospholipid-translocating ATPase activity Ref.2 Non-traceable author statement. 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	86	Cytoplasmic Potential
	Transmembrane	87 – 106	20	Potential
	Topological domain	107 – 110	4	Extracellular Potential
	Transmembrane	111 – 128	18	Potential
	Topological domain	129 – 309	181	Cytoplasmic Potential
	Transmembrane	310 – 332	23	Potential
	Topological domain	333 – 362	30	Extracellular Potential
	Transmembrane	363 – 384	22	Potential
	Topological domain	385 – 1087	703	Cytoplasmic Potential
	Transmembrane	1088 – 1108	21	Potential
	Topological domain	1109 – 1119	11	Extracellular Potential
	Transmembrane	1120 – 1140	21	Potential
	Topological domain	1141 – 1170	30	Cytoplasmic Potential
	Transmembrane	1171 – 1192	22	Potential
	Topological domain	1193 – 1199	7	Extracellular Potential
	Transmembrane	1200 – 1222	23	Potential
	Topological domain	1223 – 1228	6	Cytoplasmic Potential
	Transmembrane	1229 – 1249	21	Potential
	Topological domain	1250 – 1267	18	Extracellular Potential
	Transmembrane	1268 – 1292	25	Potential
	Topological domain	1293 – 1499	207	Cytoplasmic Potential
	Compositional bias	467 – 470	4	Poly-Glu
Sites
	Active site	427	1	4-aspartylphosphate intermediate By similarity
	Metal binding	1031	1	Magnesium By similarity
	Metal binding	1035	1	Magnesium By similarity
Amino acid modifications
	Modified residue	646	1	Phosphoserine By similarity
Natural variations
	Natural variant	353	1	S → Y: dbSNP rs17116056.		VAR_048380
	Natural variant	532	1	T → M: dbSNP rs2066703.		VAR_022004
	Natural variant	784	1	A → T: dbSNP rs2066704.		VAR_022005
	Natural variant	834	1	E → K: dbSNP rs17555920.		VAR_048381
	Natural variant	1172	1	W → C: dbSNP rs2076742.		VAR_022006
	Natural variant	1179	1	A → T: dbSNP rs2076744.		VAR_022007
	Natural variant	1188	1	I → V: dbSNP rs2076745.		VAR_022008
	Natural variant	1198	1	V → M: dbSNP rs2076746.		VAR_048382
	Natural variant	1298	1	R → S: dbSNP rs3816800.		VAR_022009
	Natural variant	1397	1	A → V: dbSNP rs9324127.		VAR_048383
Experimental info
	Sequence conflict	388	1	Q → R in BAA25492. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	O60312-1 [UniParc]. Last modified August 13, 2002. Version 2. Checksum: D4996A4D0635A68D	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

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: 11326269] [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: 11353404] [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: 15489334] [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: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 337-1499. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00783442.
RefSeq	NP_077816.1.
UniGene	Hs.659258
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	O60312.
PTM databases
PhosphoSite	O60312.
Proteomic databases
PRIDE	O60312.
Genome annotation databases
Ensembl	ENST00000356865; ENSP00000349325; ENSG00000206190; Homo sapiens. [Genome view] ENST00000389967; ENSP00000374617; ENSG00000206190; Homo sapiens. [Genome view]
GeneID	57194.
KEGG	hsa:57194.
UCSC	uc010ayu.1. human.
Organism-specific databases
CTD	57194.
GeneCards	GC15M023473.
HGNC	HGNC:13542. ATP10A.
MIM	105830. phenotype. 605855. gene.
Orphanet	72. Angelman syndrome.
PharmGKB	PA25097.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O60312.
OMA	KETFAQG.
Enzyme and pathway databases
BRENDA	3.6.3.1. 247.
Gene expression databases
ArrayExpress	O60312.
Bgee	O60312.
CleanEx	HS_ATP10A.
Genevestigator	O60312.
GermOnline	ENSG00000206190. Homo sapiens.
Family and domain databases
InterPro	IPR008250. ATPase_P-typ_ATPase-assoc-reg. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR006539. ATPase_P-typ_Plipid-transl. IPR013200. HAD-SF_hydro-like_3. [Graphical view]
PANTHER	PTHR11939. ATPase_P. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 1 hit. PF08282. Hydrolase_3. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE.
TIGRFAMs	TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 2 hits.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	November 3, 2009
This is version 96 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.