Reviewed,
UniProtKB/Swiss-Prot O94964 (CT117_HUMAN)
Last modified
December 15, 2009.
Version 62.
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Names and origin · Protein attributes · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Uncharacterized protein C20orf117 | ||||
| Gene names |
| ||||
| 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 | 1423 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O94964-1) 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: O94964-2) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MEAPAAEPPV...DEIEELRAEM | ||||||
| Note: No experimental confirmation available. Gene prediction based on EST data. | ||||||
| Isoform 3 (identifier: O94964-3) The sequence of this isoform differs from the canonical sequence as follows: 1-870: Missing. 871-922: NRLSQLQKAA...EVELGGNGLK → MWDWAPTTSL...NNDVSSSVLR 1374-1423: DAVCDCSTQSLTSCFARSSRSAIRHSPSKCRLHPSESSWGGEERALPPSE → VGGWDLSFLLVGGVSI |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1423 | 1423 | Uncharacterized protein C20orf117 | PRO_0000050781 | |||||
Amino acid modifications | |||||||||
| Modified residue | 1017 | 1 | Phosphoserine Ref.5 Ref.7 | ||||||
| Modified residue | 1244 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 1303 | 1 | Phosphoserine Ref.6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 870 | 870 | Missing in isoform 3. | VSP_035976 | |||||
| Alternative sequence | 1 | 1 | M → MEAPAAEPPVRGCGPQPAPA PAPAPERKKSHRAPSPARPK DVAGWSLAKGRRGPGPGSAV ACSAAFSSRPDKKGRAVAPG ARGAGVRVAGVRTGVRAKGR PRSGAGPRPPPPPPSLTDSS SEVSDCASEEARLLGLELAL SSDAESAAGGPAGVRTGQPA QPAPSAQQPPRPPASPDEPS VAASSVGSSRLPLSASLAFS DLTEEMLDCGPSGLVRELEE LRSENDYLKDEIEELRAEM in isoform 2. | VSP_035977 | |||||
| Alternative sequence | 871 – 922 | 52 | NRLSQ…GNGLK → MWDWAPTTSLQEVNKTVLVF ALTQHTDQGGRPECALSVIS TNNDVSSSVLR in isoform 3. | VSP_035978 | |||||
| Alternative sequence | 1374 – 1423 | 50 | DAVCD…LPPSE → VGGWDLSFLLVGGVSI in isoform 3. | VSP_035979 | |||||
| Natural variant | 993 | 1 | Q → H: dbSNP rs34459518. | VAR_056848 | |||||
Sequences
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References
| [1] | "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:355-364(1998) [PubMed: 10048485] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [2] | "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] (ISOFORM 3). Tissue: Embryo. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [5] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017, MASS SPECTROMETRY. Tissue: Epithelium. |
| [6] | "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1244 AND SER-1303, MASS SPECTROMETRY. |
| [7] | "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-1017, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AB020696 mRNA. Translation: BAA74912.2. Different initiation. AK022023 mRNA. Translation: BAB13954.1. AL391602, AL079335, AL132768 Genomic DNA. Translation: CAI12788.3. AL132768, AL079335, AL391602 Genomic DNA. Translation: CAI21460.3. AL079335, AL132768, AL391602 Genomic DNA. Translation: CAI42289.3. BC113405 mRNA. Translation: AAI13406.1. BC113433 mRNA. Translation: AAI13434.1. | |
| IPI | IPI00022274. IPI00797771. IPI00915294. |
| RefSeq | NP_542194.2. |
| UniGene | Hs.460807 Hs.719179 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | O94964. |
Proteomic databases | |
| PeptideAtlas | O94964. |
Genome annotation databases | |
| Ensembl | ENST00000237536; ENSP00000237536; ENSG00000149639; Homo sapiens. [Genome view] ENST00000357779; ENSP00000350424; ENSG00000149639; Homo sapiens. [Genome view] ENST00000456801; ENSP00000413886; ENSG00000149639; Homo sapiens. [Genome view] |
| GeneID | 140710. |
Organism-specific databases | |
| GeneCards | GC20M034839. |
| HGNC | HGNC:16111. C20orf117. |
| PharmGKB | PA25657. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG716993. |
| HOVERGEN | O94964. |
| OMA | AVCDCST. |
Gene expression databases | |
| ArrayExpress | O94964. |
| Bgee | O94964. |
| CleanEx | HS_C20orf117. |
| Genevestigator | O94964. |
| GermOnline | ENSG00000149639. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Entry information
| Entry name | CT117_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O94964 Secondary accession number(s): A6NK10, Q14DB2, Q5JW51 | ||||||||
| Entry history |
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| 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 20 Human chromosome 20: 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 |

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