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Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene.[1] It has been found by yeast two hybrid screen to bind to SETDB1 a histone protein methyltranferase enzyme. SETDB1 has been implicated in Huntington's disease, a neurodegenerative disorder.[2]
C11orf1 is a nuclear protein with unknown function but has been shown to show preferential expression in some disease states in microarray data.[3][4]
C11orf1 shows conservation through mammals and orthologs can be found in sea squirts and sea anemone. The below table shows some orthologs found using BLAST.[5]
PREDICTED: similar to predicted protein [Ciona intestinalis]
Gene
C11orf1 is located on chromosome 11 and is neighbored by:
FDXACB1-201
ALG9-201
ALG9-202
AP001781.5-201
Protein
Structure
This protein is part of the UPF0686 superfamily. This family is characterized by the presence of a domain of unknown function (DUF)1143 shared by the family.[6] This family DUF1143 has a domain that includes almost all,149, of the 150 amino acids in the human ortholog. C11orf1 has six spicesomal variants and one unspliced variant.
Two O-(N-acetylaminogalactosyl)-L-threonine Glycosylations at position 138 and 142 on the protein sequence[9]
Two O-phospho-L-serine Phosphorylation sites at 112 and 141.[9]
Four O-phospho-L-threonine Phosphorylation sites at 59, 99, 113, and 138.[9]
Four O4'-phospho-L-tyrosine Phosphorylation sites at 64, 101, 105 and 143.[9]
Tissue distribution
C11orf1 appears to be ubiquitously expressed at low levels but particularly high expression in the parathyroid. Expression data indicate expression in most tissues.[10] This gene has also been found in one experiment to be under expressed in Huntington's disease patients while SETDB1 is over-expressed.[3]
↑O'Brien KP, Tapia-Páez I, Ståhle-Bäckdahl M, Kedra D, Dumanski JP (June 2000). "Characterization of five novel human genes in the 11q13-q22 region". Biochemical and Biophysical Research Communications. 273 (1): 90–4. doi:10.1006/bbrc.2000.2910. PMID10873569.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID16169070.
O'Brien KP, Tapia-Páez I, Stãhle-Bäckdahl M, et al. (2000). "Characterization of five novel human genes in the 11q13-q22 region". Biochem. Biophys. Res. Commun. 273 (1): 90–4. doi:10.1006/bbrc.2000.2910. PMID10873569.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
