Reviewed,
UniProtKB/Swiss-Prot Q8NB49 (AT11C_HUMAN)
Last modified
February 9, 2010.
Version 78.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Probable phospholipid-transporting ATPase IG EC=3.6.3.1 Alternative name(s): ATPase class VI type 11C ATPase IQ | ||||
| Gene names |
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| 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 | 1132 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Catalytic activity | ATP + H2O + phospholipid(In) = ADP + phosphate + phospholipid(Out). |
| Subcellular location | |
| Tissue specificity | Widely expressed. Ref.1 |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.4 Ref.5 Ref.6 Ref.7 |
| Sequence similarities | Belongs to the cation transport ATPase (P-type) family. Type IV subfamily. |
| Sequence caution | The sequence CAI39713.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI39714.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI39716.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI40418.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41444.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41445.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41446.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI41447.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing 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 transportInferred from electronic annotation. Source: InterPro |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanismInferred from electronic annotation. Source: InterPro magnesium ion bindingInferred from electronic annotation. Source: UniProtKB-KW phospholipid-translocating ATPase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NB49-1) 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: Q8NB49-2) The sequence of this isoform differs from the canonical sequence as follows: 1100-1132: RNLSCRRASDSLSARPSVRPLLLRTFSDESNVL → VHHLISSSA | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8NB49-3) The sequence of this isoform differs from the canonical sequence as follows: 1100-1132: RNLSCRRASDSLSARPSVRPLLLRTFSDESNVL → NPNLELPMLLSYKHTDSGYS | ||||||
| Isoform 4 (identifier: Q8NB49-4) The sequence of this isoform differs from the canonical sequence as follows: 1100-1132: RNLSCRRASDSLSARPSVRPLLLRTFSDESNVL → VTKRLPSSGTSAIFMLSQTSSNHSFSWSE | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1132 | 1132 | Probable phospholipid-transporting ATPase IG | PRO_0000046373 | |||||
Regions | |||||||||
| Topological domain | 1 – 66 | 66 | Cytoplasmic Potential | ||||||
| Transmembrane | 67 – 85 | 19 | Potential | ||||||
| Topological domain | 86 | 1 | Extracellular Potential | ||||||
| Transmembrane | 87 – 107 | 21 | Potential | ||||||
| Topological domain | 108 – 290 | 183 | Cytoplasmic Potential | ||||||
| Transmembrane | 291 – 311 | 21 | Potential | ||||||
| Topological domain | 312 – 346 | 35 | Extracellular Potential | ||||||
| Transmembrane | 347 – 367 | 21 | Potential | ||||||
| Topological domain | 368 – 879 | 512 | Cytoplasmic Potential | ||||||
| Transmembrane | 880 – 900 | 21 | Potential | ||||||
| Topological domain | 901 – 908 | 8 | Extracellular Potential | ||||||
| Transmembrane | 909 – 929 | 21 | Potential | ||||||
| Topological domain | 930 – 955 | 26 | Cytoplasmic Potential | ||||||
| Transmembrane | 956 – 976 | 21 | Potential | ||||||
| Topological domain | 977 – 995 | 19 | Extracellular Potential | ||||||
| Transmembrane | 996 – 1016 | 21 | Potential | ||||||
| Topological domain | 1017 – 1026 | 10 | Cytoplasmic Potential | ||||||
| Transmembrane | 1027 – 1047 | 21 | Potential | ||||||
| Topological domain | 1048 – 1069 | 22 | Extracellular Potential | ||||||
| Transmembrane | 1070 – 1090 | 21 | Potential | ||||||
| Topological domain | 1091 – 1132 | 42 | Cytoplasmic Potential | ||||||
Sites | |||||||||
| Active site | 412 | 1 | 4-aspartylphosphate intermediate By similarity | ||||||
| Metal binding | 819 | 1 | Magnesium By similarity | ||||||
| Metal binding | 823 | 1 | Magnesium By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 261 | 1 | Phosphotyrosine Ref.5 | ||||||
| Modified residue | 445 | 1 | Phosphoserine Ref.4 Ref.6 Ref.7 | ||||||
| Modified residue | 1108 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1100 – 1132 | 33 | RNLSC…ESNVL → VHHLISSSA in isoform 2. | VSP_007309 | |||||
| Alternative sequence | 1100 – 1132 | 33 | RNLSC…ESNVL → NPNLELPMLLSYKHTDSGYS in isoform 3. | VSP_013373 | |||||
| Alternative sequence | 1100 – 1132 | 33 | RNLSC…ESNVL → VTKRLPSSGTSAIFMLSQTS SNHSFSWSE in isoform 4. | VSP_013374 | |||||
| Natural variant | 114 | 1 | C → W: dbSNP rs2491014. Ref.1 | VAR_021827 | |||||
| Natural variant | 157 | 1 | T → I in a colorectal cancer sample; somatic mutation. Ref.8 | VAR_036501 | |||||
| Natural variant | 522 | 1 | Y → C: dbSNP rs17281983. | VAR_055546 | |||||
| Natural variant | 931 | 1 | Q → P in a colorectal cancer sample; somatic mutation. Ref.8 | VAR_036502 | |||||
| Natural variant | 972 | 1 | V → M: dbSNP rs55724992. | VAR_061036 | |||||
Experimental info | |||||||||
| Sequence conflict | 537 | 1 | L → P in BAC86377. Ref.3 | ||||||
| Sequence conflict | 873 | 1 | I → V in BAC86377. Ref.3 | ||||||
Sequences
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References
| [1] | "X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase." Andrew-Nesbit M., Bowl M.R., Harding B., Schlessinger D., Whyte M.P., Thakker R.V. Genomics 84:1060-1070(2004) [PubMed: 15533723] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, VARIANT TRP-114. Tissue: Liver. |
| [2] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 305-1132 (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 543-1132 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 777-1132 (ISOFORM 2). Tissue: Brain, Fetal brain, Testis and Thalamus. |
| [4] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445, MASS SPECTROMETRY. |
| [5] | "Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-261, MASS SPECTROMETRY. |
| [6] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445, MASS SPECTROMETRY. |
| [7] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445, MASS SPECTROMETRY. |
| [8] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-157 AND PRO-931. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ580093 mRNA. Translation: CAE30472.1. AJ580094 mRNA. Translation: CAE30473.1. AL161777, AL356785 Genomic DNA. Translation: CAI39713.1. Sequence problems. AL161777, AL356785 Genomic DNA. Translation: CAI39714.1. Sequence problems. AL161777, AL356785, AL590077 Genomic DNA. Translation: CAI39716.1. Sequence problems. AL356785, AL161777 Genomic DNA. Translation: CAI41444.1. Sequence problems. AL356785, AL161777 Genomic DNA. Translation: CAI41445.1. Sequence problems. AL356785, AL161777, AL590077 Genomic DNA. Translation: CAI41446.1. Sequence problems. AL356785 Genomic DNA. Translation: CAI41447.1. Sequence problems. AL590077, AL356785, AL161777 Genomic DNA. Translation: CAI40418.1. Sequence problems. AK091552 mRNA. Translation: BAC03692.1. Different initiation. AK125474 mRNA. Translation: BAC86172.1. Different initiation. AK125986 mRNA. Translation: BAC86377.1. Different initiation. AK131262 mRNA. Translation: BAD18440.1. Different initiation. |
| IPI | IPI00237446. IPI00396234. IPI00552319. IPI00555989. |
| RefSeq | NP_001010986.1. NP_775965.2. |
| UniGene | Hs.88252 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8NB49. |
PTM databases | |
| PhosphoSite | Q8NB49. |
Proteomic databases | |
| PRIDE | Q8NB49. |
Genome annotation databases | |
| Ensembl | ENST00000327569; ENSP00000332756; ENSG00000101974; Homo sapiens. [Genome view] |
| GeneID | 286410. |
| KEGG | hsa:286410. |
| UCSC | uc004faz.1. human. uc004fba.1. human. |
Organism-specific databases | |
| CTD | 286410. |
| GeneCards | GC0XM138636. |
| HGNC | HGNC:13554. ATP11C. |
| MIM | 300516. gene. |
| PharmGKB | PA25103. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG09076. |
| HOVERGEN | Q8NB49. |
| InParanoid | Q8NB49. |
| OMA | ACRLFQT. |
| PhylomeDB | Q8NB49. |
Enzyme and pathway databases | |
| BRENDA | 3.6.3.1. 247. |
Gene expression databases | |
| ArrayExpress | Q8NB49. |
| Bgee | Q8NB49. |
| Genevestigator | Q8NB49. |
| GermOnline | ENSG00000101974. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008250. ATPase_P-typ_ATPase-assoc-dom. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR006539. ATPase_P-typ_Plipid-transl. IPR005834. Dehalogen-like_hydro. [Graphical view] |
| PANTHER | PTHR11939. ATPase_P. 1 hit. |
| Pfam | PF00122. E1-E2_ATPase. 1 hit. PF00702. Hydrolase. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 4 hits. |
| PROSITE | PS00154. ATPASE_E1_E2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 96190. |
| SOURCE | Search... |
Entry information
| Entry name | AT11C_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NB49 Secondary accession number(s): Q5JT69 Q8WX24 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


