| C11orf1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C11orf1, chromosome 11 open reading frame 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1915971 HomoloGene: 11242 GeneCards: C11orf1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene.[5] It has been found by yeast two hybrid screen to bind to SETDB1 a histone protein methyltransferase enzyme. SETDB1 has been implicated in Huntington's disease, a neurodegenerative disorder.[6]
C11orf1 is a nuclear protein with unknown function but has been shown to show preferential expression in some disease states in microarray data.[7][8]
Species distribution
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.[9]
| Species | Organism Common Name | NCBI Accession | Sequence Identity | Expected value | Length (AAs) | Gene Common Name |
| Homo sapiens | Human | CAG33659 | 100% | 8e−86 | 150 | C11orf1 |
| Bos taurus | Bovine | NP_001033266.1 | 85% | 1e−70 | 149 | UPF0686 protein C11orf1 homolog |
| Canis lupus familiaris | Dog | XP_536577.1 | 88% | 3e−68 | 485 | PREDICTED: hypothetical protein XP_536577 [Canis familiaris] |
| Mus musculus | Mouse | NP_075972.2 | 78% | 4e−65 | 466 | hypothetical protein LOC68721 [Mus musculus] |
| Ciona intestinalis | Sea Squirt | XP_002127073.1 | 49% | 3e−23 | 156 | 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.[10] This family DUF1143 has a domain that includes almost all 149 of the 150 amino acids in the human ortholog. C11orf1 has six splicesomal variants and one unspliced variant.
Predicted properties
The following properties of C11orf1 were predicted using bioinformatic analysis:
- Molecular Weight: 17.76 KDal[11]
- Isoelectric point: 7.28[12]
- Post-translational modification: twelve possible post-translational modifications are predicted:
- Two O-(N-acetylaminogalactosyl)-L-threonine Glycosylations at position 138 and 142 on the protein sequence[13]
- Two O-phospho-L-serine Phosphorylation sites at 112 and 141.[13]
- Four O-phospho-L-threonine Phosphorylation sites at 59, 99, 113, and 138.[13]
- Four O4'-phospho-L-tyrosine Phosphorylation sites at 64, 101, 105 and 143.[13]
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.[14] This gene has also been found in one experiment to be under expressed in Huntington's disease patients while SETDB1 is over-expressed.[7]
Binding partners
The human protein SET domain bifurcated 1, was found to be a binding partner for C11orf1 by Yeast Two Hybrid.[15]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000137720 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037971 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: C11orf1".
- ↑ Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E, et al. (June 2008). "The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice". Proc. Natl. Acad. Sci. USA. 105 (1): 15564–69. Bibcode:2008PNAS..10515564T. doi:10.1073/pnas.0804249105. PMC 2563081. PMID 18829438.
- 1 2 "E-AFMX-6: Transcription profiling of caudate nucleus, frontal cortex, and cerebellum samples from 44 Huntingtons disease HD-gene-positive cases and 36 age- and sex-matched controls".
- ↑ 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. PMID 10873569.
- ↑ "BLAST: Basic Local Alignment Search Tool". National Center for Biotechnology Information, United States National Institutes of Health. Retrieved 2009-05-07.
- ↑ "CDD: Conserved Domain Database (NCBI)".
- ↑ Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (March 1992). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences of the United States of America. 89 (6): 2002–6. Bibcode:1992PNAS...89.2002B. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.
- ↑ Kozlowski, LP (21 October 2016). "IPC - Isoelectric Point Calculator". Biology Direct. 11 (1): 55. doi:10.1186/s13062-016-0159-9. PMC 5075173. PMID 27769290.
- 1 2 3 4 "UniProt Database".
- ↑ "Unigene (EST profile viewer) Human C11orf1".
- ↑ "SET domain, bifurcated 1 [Homo sapiens]". Protein. National Center for Biotechnology Information, United States National Institutes of Health. Retrieved 2009-05-10.
External links
- Human C11orf1 genome location and C11orf1 gene details page in the UCSC Genome Browser.
Further reading
- 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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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. PMID 10873569.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- 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. PMID 14702039.