Q9P241 (AT10D_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 116.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Probable phospholipid-transporting ATPase VD EC=3.6.3.1 Alternative name(s): ATPase class V type 10D | ||||
| Gene names |
| ||||
| 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 | 1426 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.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. |
Ontologies
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1426 | 1426 | Probable phospholipid-transporting ATPase VD | PRO_0000046382 | |||||
Regions | |||||||||
| Topological domain | 1 – 97 | 97 | Cytoplasmic Potential | ||||||
| Transmembrane | 98 – 118 | 21 | Helical; Potential | ||||||
| Topological domain | 119 – 121 | 3 | Extracellular Potential | ||||||
| Transmembrane | 122 – 142 | 21 | Helical; Potential | ||||||
| Topological domain | 143 – 321 | 179 | Cytoplasmic Potential | ||||||
| Transmembrane | 322 – 342 | 21 | Helical; Potential | ||||||
| Topological domain | 343 – 365 | 23 | Extracellular Potential | ||||||
| Transmembrane | 366 – 386 | 21 | Helical; Potential | ||||||
| Topological domain | 387 – 1113 | 727 | Cytoplasmic Potential | ||||||
| Transmembrane | 1114 – 1134 | 21 | Helical; Potential | ||||||
| Topological domain | 1135 – 1145 | 11 | Extracellular Potential | ||||||
| Transmembrane | 1146 – 1166 | 21 | Helical; Potential | ||||||
| Topological domain | 1167 – 1195 | 29 | Cytoplasmic Potential | ||||||
| Transmembrane | 1196 – 1216 | 21 | Helical; Potential | ||||||
| Topological domain | 1217 – 1224 | 8 | Extracellular Potential | ||||||
| Transmembrane | 1225 – 1245 | 21 | Helical; Potential | ||||||
| Topological domain | 1246 – 1252 | 7 | Cytoplasmic Potential | ||||||
| Transmembrane | 1253 – 1273 | 21 | Helical; Potential | ||||||
| Topological domain | 1274 – 1292 | 19 | Extracellular Potential | ||||||
| Transmembrane | 1293 – 1313 | 21 | Helical; Potential | ||||||
| Topological domain | 1314 – 1426 | 113 | Cytoplasmic Potential | ||||||
| Nucleotide binding | 996 – 1003 | 8 | ATP Potential | ||||||
| Nucleotide binding | 1364 – 1371 | 8 | ATP Potential | ||||||
Sites | |||||||||
| Active site | 438 | 1 | 4-aspartylphosphate intermediate By similarity | ||||||
| Metal binding | 1056 | 1 | Magnesium By similarity | ||||||
| Metal binding | 1060 | 1 | Magnesium By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 553 – 747 | 195 | Missing in isoform 2. | VSP_006954 | |||||
| Natural variant | 43 | 1 | T → I. Ref.4 Corresponds to variant rs33995001 [ dbSNP | Ensembl ]. | VAR_048385 | |||||
| Natural variant | 171 | 1 | C → R. Corresponds to variant rs7683838 [ dbSNP | Ensembl ]. | VAR_048386 | |||||
| Natural variant | 320 | 1 | T → I. Corresponds to variant rs35596623 [ dbSNP | Ensembl ]. | VAR_048387 | |||||
| Natural variant | 337 | 1 | A → T. Corresponds to variant rs35012290 [ dbSNP | Ensembl ]. | VAR_048388 | |||||
| Natural variant | 511 | 1 | N → S. Corresponds to variant rs10003238 [ dbSNP | Ensembl ]. | VAR_048389 | |||||
| Natural variant | 522 | 1 | F → L. Corresponds to variant rs6843325 [ dbSNP | Ensembl ]. | VAR_048390 | |||||
| Natural variant | 716 | 1 | P → T. Corresponds to variant rs34208443 [ dbSNP | Ensembl ]. | VAR_048391 | |||||
| Natural variant | 720 | 1 | N → S. Corresponds to variant rs34169638 [ dbSNP | Ensembl ]. | VAR_048392 | |||||
| Natural variant | 959 | 1 | S → N. Corresponds to variant rs17462252 [ dbSNP | Ensembl ]. | VAR_048393 | |||||
| Natural variant | 1183 | 1 | R → K. Corresponds to variant rs16851681 [ dbSNP | Ensembl ]. | VAR_048394 | |||||
| Natural variant | 1240 | 1 | V → I. Ref.4 Corresponds to variant rs1058793 [ dbSNP | Ensembl ]. | VAR_020187 | |||||
| Natural variant | 1389 | 1 | S → T. Ref.6 Corresponds to variant rs4145944 [ dbSNP | Ensembl ]. | VAR_024371 | |||||
| Natural variant | 1392 | 1 | A → G. Corresponds to variant rs35375547 [ dbSNP | Ensembl ]. | VAR_048395 | |||||
Experimental info | |||||||||
| Sequence conflict | 142 | 1 | D → G in CAD29577. Ref.1 | ||||||
| Sequence conflict | 1002 | 1 | K → R in CAD29577. Ref.1 | ||||||
| Sequence conflict | 1090 | 1 | S → Y in CAD29577. Ref.1 | ||||||
Sequences
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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. 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. 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. 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. |
| IPI | IPI00001723. IPI00216521. |
| RefSeq | NP_065186.3. NM_020453.3. |
| UniGene | Hs.437241. |
3D structure databases | |
| ProteinModelPortal | Q9P241. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000273859. |
PTM databases | |
| PhosphoSite | Q9P241. |
Polymorphism databases | |
| DMDM | 300669610. |
Proteomic databases | |
| PaxDb | Q9P241. |
| PRIDE | Q9P241. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000273859; ENSP00000273859; ENSG00000145246. |
| GeneID | 57205. |
| KEGG | hsa:57205. |
| UCSC | uc003gxk.1. human. uc003gxl.1. human. |
Organism-specific databases | |
| CTD | 57205. |
| GeneCards | GC04P047487. |
| HGNC | HGNC:13549. ATP10D. |
| HPA | HPA050808. |
| neXtProt | NX_Q9P241. |
| PharmGKB | PA25100. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0474. |
| HOGENOM | HOG000202528. |
| HOVERGEN | HBG107129. |
| InParanoid | Q9P241. |
| KO | K01530. |
| OMA | AMRLENK. |
| OrthoDB | EOG45DWNJ. |
| PhylomeDB | Q9P241. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | Q9P241. |
| Bgee | Q9P241. |
| CleanEx | HS_ATP10D. |
| Genevestigator | Q9P241. |
| GermOnline | ENSG00000145246. 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 | 57205. |
| NextBio | 63294. |
Entry information
| Entry name | AT10D_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P241 Secondary accession number(s): A2RRC8 Q96SR3 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
