Q8NB49 (AT11C_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 108.
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 IG EC=3.6.3.1 Alternative name(s): ATPase IQ ATPase class VI type 11C | ||||
| 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 | 1132 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Catalytic activity | ATP + H2O + phospholipid(side 1) = ADP + phosphate + phospholipid(side 2). |
| Subunit structure | Interacts with TMEM30A, but not with TMEM30B. Ref.8 |
| Subcellular location | Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note: Efficient exit from the endoplasmic reticulum requires the presence of TMEM30A. Some cell membrane localization observed in the presence of TMEM30B. Ref.8 |
| Tissue specificity | Widely expressed. 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 BAC03692.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC86172.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC86377.1 differs from that shown. Reason: Erroneous initiation. The sequence BAD18440.1 differs from that shown. Reason: Erroneous initiation. 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
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 | Helical; Potential | ||||||
| Topological domain | 86 | 1 | Extracellular Potential | ||||||
| Transmembrane | 87 – 107 | 21 | Helical; Potential | ||||||
| Topological domain | 108 – 290 | 183 | Cytoplasmic Potential | ||||||
| Transmembrane | 291 – 311 | 21 | Helical; Potential | ||||||
| Topological domain | 312 – 346 | 35 | Extracellular Potential | ||||||
| Transmembrane | 347 – 367 | 21 | Helical; Potential | ||||||
| Topological domain | 368 – 879 | 512 | Cytoplasmic Potential | ||||||
| Transmembrane | 880 – 900 | 21 | Helical; Potential | ||||||
| Topological domain | 901 – 908 | 8 | Extracellular Potential | ||||||
| Transmembrane | 909 – 929 | 21 | Helical; Potential | ||||||
| Topological domain | 930 – 955 | 26 | Cytoplasmic Potential | ||||||
| Transmembrane | 956 – 976 | 21 | Helical; Potential | ||||||
| Topological domain | 977 – 995 | 19 | Extracellular Potential | ||||||
| Transmembrane | 996 – 1016 | 21 | Helical; Potential | ||||||
| Topological domain | 1017 – 1026 | 10 | Cytoplasmic Potential | ||||||
| Transmembrane | 1027 – 1047 | 21 | Helical; Potential | ||||||
| Topological domain | 1048 – 1069 | 22 | Extracellular Potential | ||||||
| Transmembrane | 1070 – 1090 | 21 | Helical; 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 | 445 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 1108 | 1 | Phosphoserine Ref.7 | ||||||
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. Ref.1 Corresponds to variant rs2491014 [ dbSNP | Ensembl ]. | VAR_021827 | |||||
| Natural variant | 157 | 1 | T → I in a colorectal cancer sample; somatic mutation. Ref.10 | VAR_036501 | |||||
| Natural variant | 522 | 1 | Y → C. Corresponds to variant rs17281983 [ dbSNP | Ensembl ]. | VAR_055546 | |||||
| Natural variant | 931 | 1 | Q → P in a colorectal cancer sample; somatic mutation. Ref.10 | VAR_036502 | |||||
| Natural variant | 972 | 1 | V → M. Corresponds to variant rs55724992 [ dbSNP | Ensembl ]. | 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
| ||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [6] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [7] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1108, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "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: INTERACTION WITH TMEM30A, SUBCELLULAR LOCATION. |
| [9] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [10] | "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] [Europe PMC] [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. NM_001010986.2. NP_775965.2. NM_173694.4. |
| UniGene | Hs.88252. |
3D structure databases | |
| ProteinModelPortal | Q8NB49. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8NB49. |
Polymorphism databases | |
| DMDM | 62512178. |
Proteomic databases | |
| PaxDb | Q8NB49. |
| PRIDE | Q8NB49. |
Protocols and materials databases | |
| DNASU | 286410. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000327569; ENSP00000332756; ENSG00000101974. ENST00000359686; ENSP00000352715; ENSG00000101974. ENST00000361648; ENSP00000355165; ENSG00000101974. ENST00000370543; ENSP00000359574; ENSG00000101974. ENST00000370557; ENSP00000359588; ENSG00000101974. ENST00000450801; ENSP00000391259; ENSG00000101974. |
| GeneID | 286410. |
| KEGG | hsa:286410. |
| UCSC | uc004faz.3. human. uc004fba.3. human. |
Organism-specific databases | |
| CTD | 286410. |
| GeneCards | GC0XM138808. |
| HGNC | HGNC:13554. ATP11C. |
| HPA | HPA030830. |
| MIM | 300516. gene. |
| neXtProt | NX_Q8NB49. |
| PharmGKB | PA25103. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0474. |
| HOVERGEN | HBG050601. |
| InParanoid | Q8NB49. |
| KO | K01530. |
| OMA | PRLYMKI. |
| PhylomeDB | Q8NB49. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| Bgee | Q8NB49. |
| Genevestigator | Q8NB49. |
| GermOnline | ENSG00000101974. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.70.150.10. 2 hits. 3.40.1110.10. 1 hit. 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] |
| SUPFAM | SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit. |
| TIGRFAMs | TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 3 hits. |
| PROSITE | PS00154. ATPASE_E1_E2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 286410. |
| 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 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 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
