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Q9P241 (AT10D_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable phospholipid-transporting ATPase VD

EC=3.6.3.1
Alternative name(s):
ATPase class V type 10D
Gene names
Name:ATP10D
Synonyms:ATPVD, KIAA1487
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1426 AA.
Sequence statusComplete.
Protein existenceEvidence 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.7

Tissue specificity

Expressed in placenta and, to a lesser extent, in kidney. Ref.1

Sequence similarities

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

Sequence caution

The sequence BAB55221.1 differs from that shown. Reason: Frameshift at position 748.

The sequence BAC11299.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P241-1)

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.
Isoform 2 (identifier: Q9P241-2)

The sequence of this isoform differs from the canonical sequence as follows:
     553-747: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14261426Probable phospholipid-transporting ATPase VD
PRO_0000046382

Regions

Topological domain1 – 9797Cytoplasmic Potential
Transmembrane98 – 11821Helical; Potential
Topological domain119 – 1213Extracellular Potential
Transmembrane122 – 14221Helical; Potential
Topological domain143 – 321179Cytoplasmic Potential
Transmembrane322 – 34221Helical; Potential
Topological domain343 – 36523Extracellular Potential
Transmembrane366 – 38621Helical; Potential
Topological domain387 – 1113727Cytoplasmic Potential
Transmembrane1114 – 113421Helical; Potential
Topological domain1135 – 114511Extracellular Potential
Transmembrane1146 – 116621Helical; Potential
Topological domain1167 – 119529Cytoplasmic Potential
Transmembrane1196 – 121621Helical; Potential
Topological domain1217 – 12248Extracellular Potential
Transmembrane1225 – 124521Helical; Potential
Topological domain1246 – 12527Cytoplasmic Potential
Transmembrane1253 – 127321Helical; Potential
Topological domain1274 – 129219Extracellular Potential
Transmembrane1293 – 131321Helical; Potential
Topological domain1314 – 1426113Cytoplasmic Potential
Nucleotide binding996 – 10038ATP Potential
Nucleotide binding1364 – 13718ATP Potential

Sites

Active site43814-aspartylphosphate intermediate By similarity
Metal binding10561Magnesium By similarity
Metal binding10601Magnesium By similarity

Natural variations

Alternative sequence553 – 747195Missing in isoform 2.
VSP_006954
Natural variant431T → I. Ref.4
Corresponds to variant rs33995001 [ dbSNP | Ensembl ].
VAR_048385
Natural variant1711C → R.
Corresponds to variant rs7683838 [ dbSNP | Ensembl ].
VAR_048386
Natural variant3201T → I.
Corresponds to variant rs35596623 [ dbSNP | Ensembl ].
VAR_048387
Natural variant3371A → T.
Corresponds to variant rs35012290 [ dbSNP | Ensembl ].
VAR_048388
Natural variant5111N → S.
Corresponds to variant rs10003238 [ dbSNP | Ensembl ].
VAR_048389
Natural variant5221F → L.
Corresponds to variant rs6843325 [ dbSNP | Ensembl ].
VAR_048390
Natural variant7161P → T.
Corresponds to variant rs34208443 [ dbSNP | Ensembl ].
VAR_048391
Natural variant7201N → S.
Corresponds to variant rs34169638 [ dbSNP | Ensembl ].
VAR_048392
Natural variant9591S → N.
Corresponds to variant rs17462252 [ dbSNP | Ensembl ].
VAR_048393
Natural variant11831R → K.
Corresponds to variant rs16851681 [ dbSNP | Ensembl ].
VAR_048394
Natural variant12401V → I. Ref.4
Corresponds to variant rs1058793 [ dbSNP | Ensembl ].
VAR_020187
Natural variant13891S → T. Ref.6
Corresponds to variant rs4145944 [ dbSNP | Ensembl ].
VAR_024371
Natural variant13921A → G.
Corresponds to variant rs35375547 [ dbSNP | Ensembl ].
VAR_048395

Experimental info

Sequence conflict1421D → G in CAD29577. Ref.1
Sequence conflict10021K → R in CAD29577. Ref.1
Sequence conflict10901S → Y in CAD29577. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 13, 2010. Version 3.
Checksum: 97EE929F81AC59AE

FASTA1,426160,274
        10         20         30         40         50         60 
MTEALQWARY HWRRLIRGAT RDDDSGPYNY SSLLACGRKS SQTPKLSGRH RIVVPHIQPF 

        70         80         90        100        110        120 
KDEYEKFSGA YVNNRIRTTK YTLLNFVPRN LFEQFHRAAN LYFLFLVVLN WVPLVEAFQK 

       130        140        150        160        170        180 
EITMLPLVVV LTIIAIKDGL EDYRKYKIDK QINNLITKVY SRKEKKYIDR CWKDVTVGDF 

       190        200        210        220        230        240 
IRLSCNEVIP ADMVLLFSTD PDGICHIETS GLDGESNLKQ RQVVRGYAEQ DSEVDPEKFS 

       250        260        270        280        290        300 
SRIECESPNN DLSRFRGFLE HSNKERVGLS KENLLLRGCT IRNTEAVVGI VVYAGHETKA 

       310        320        330        340        350        360 
MLNNSGPRYK RSKLERRANT DVLWCVMLLV IMCLTGAVGH GIWLSRYEKM HFFNVPEPDG 

       370        380        390        400        410        420 
HIISPLLAGF YMFWTMIILL QVLIPISLYV SIEIVKLGQI YFIQSDVDFY NEKMDSIVQC 

       430        440        450        460        470        480 
RALNIAEDLG QIQYLFSDKT GTLTENKMVF RRCSVAGFDY CHEENARRLE SYQEAVSEDE 

       490        500        510        520        530        540 
DFIDTVSGSL SNMAKPRAPS CRTVHNGPLG NKPSNHLAGS SFTLGSGEGA SEVPHSRQAA 

       550        560        570        580        590        600 
FSSPIETDVV PDTRLLDKFS QITPRLFMPL DETIQNPPME TLYIIDFFIA LAICNTVVVS 

       610        620        630        640        650        660 
APNQPRQKIR HPSLGGLPIK SLEEIKSLFQ RWSVRRSSSP SLNSGKEPSS GVPNAFVSRL 

       670        680        690        700        710        720 
PLFSRMKPAS PVEEEVSQVC ESPQCSSSSA CCTETEKQHG DAGLLNGKAE SLPGQPLACN 

       730        740        750        760        770        780 
LCYEAESPDE AALVYAARAY QCTLRSRTPE QVMVDFAALG PLTFQLLHIL PFDSVRKRMS 

       790        800        810        820        830        840 
VVVRHPLSNQ VVVYTKGADS VIMELLSVAS PDGASLEKQQ MIVREKTQKH LDDYAKQGLR 

       850        860        870        880        890        900 
TLCIAKKVMS DTEYAEWLRN HFLAETSIDN REELLLESAM RLENKLTLLG ATGIEDRLQE 

       910        920        930        940        950        960 
GVPESIEALH KAGIKIWMLT GDKQETAVNI AYACKLLEPD DKLFILNTQS KDACGMLMST 

       970        980        990       1000       1010       1020 
ILKELQKKTQ ALPEQVSLSE DLLQPPVPRD SGLRAGLIIT GKTLEFALQE SLQKQFLELT 

      1030       1040       1050       1060       1070       1080 
SWCQAVVCCR ATPLQKSEVV KLVRSHLQVM TLAIGDGAND VSMIQVADIG IGVSGQEGMQ 

      1090       1100       1110       1120       1130       1140 
AVMASDFAVS QFKHLSKLLL VHGHWCYTRL SNMILYFFYK NVAYVNLLFW YQFFCGFSGT 

      1150       1160       1170       1180       1190       1200 
SMTDYWVLIF FNLLFTSAPP VIYGVLEKDV SAETLMQLPE LYRSGQKSEA YLPHTFWITL 

      1210       1220       1230       1240       1250       1260 
LDAFYQSLVC FFVPYFTYQG SDTDIFAFGN PLNTAALFIV LLHLVIESKS LTWIHLLVII 

      1270       1280       1290       1300       1310       1320 
GSILSYFLFA IVFGAMCVTC NPPSNPYWIM QEHMLDPVFY LVCILTTSIA LLPRFVYRVL 

      1330       1340       1350       1360       1370       1380 
QGSLFPSPIL RAKHFDRLTP EERTKALKKW RGAGKMNQVT SKYANQSAGK SGRRPMPGPS 

      1390       1400       1410       1420 
AVFAMKSASS CAIEQGNLSL CETALDQGYS ETKAFEMAGP SKGKES 

« Hide

Isoform 2 [UniParc].

Checksum: 67D834DFFCEA7A54
Show »

FASTA1,231138,890

References

« Hide 'large scale' references
[1]"Characterization of a putative type IV aminophospholipid transporter P-type ATPase."
Flamant S., Pescher P., Lemercier B., Clement-Ziza M., Kepes F., Fellous M., Milon G., Marchal G., Besmond C.
Mamm. Genome 14:21-30(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Monocyte.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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], VARIANTS ILE-43 AND ILE-1240.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 354-1426 (ISOFORM 2).
[6]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 777-1426, VARIANT THR-1389.
Tissue: Brain.
[7]"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
AJ441078 mRNA. Translation: CAD29577.1.
AC092597 Genomic DNA. No translation available.
AC107398 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW93036.1.
BC131535 mRNA. Translation: AAI31536.1.
AK027598 mRNA. Translation: BAB55221.1. Frameshift.
AK074930 mRNA. Translation: BAC11299.1. Different initiation.
AB040920 mRNA. Translation: BAA96011.1.
RefSeqNP_065186.3. NM_020453.3.
XP_005248175.1. XM_005248118.2.
UniGeneHs.437241.

3D structure databases

ProteinModelPortalQ9P241.
SMRQ9P241. Positions 1035-1091.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121446. 1 interaction.
STRING9606.ENSP00000273859.

PTM databases

PhosphoSiteQ9P241.

Polymorphism databases

DMDM300669610.

Proteomic databases

PaxDbQ9P241.
PRIDEQ9P241.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000273859; ENSP00000273859; ENSG00000145246. [Q9P241-1]
GeneID57205.
KEGGhsa:57205.
UCSCuc003gxk.1. human. [Q9P241-1]
uc003gxl.1. human. [Q9P241-2]

Organism-specific databases

CTD57205.
GeneCardsGC04P047487.
HGNCHGNC:13549. ATP10D.
HPAHPA050808.
neXtProtNX_Q9P241.
PharmGKBPA25100.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0474.
HOGENOMHOG000202528.
HOVERGENHBG107129.
InParanoidQ9P241.
KOK01530.
OMAIQSDVDF.
OrthoDBEOG76471S.
PhylomeDBQ9P241.
TreeFamTF354252.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9P241.
BgeeQ9P241.
CleanExHS_ATP10D.
GenevestigatorQ9P241.

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

GenomeRNAi57205.
NextBio63294.
PROQ9P241.

Entry information

Entry nameAT10D_HUMAN
AccessionPrimary (citable) accession number: Q9P241
Secondary accession number(s): A2RRC8 expand/collapse secondary AC list , D6REN2, Q8NC70, Q96SR3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: July 13, 2010
Last modified: April 16, 2014
This is version 124 of the entry and version 3 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

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 4

Human chromosome 4: entries, gene names and cross-references to MIM