| FRA10AC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FRA10AC1, C10orf4, F26C11.1-like, FRA10A, fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1, FRA10A associated CGG repeat 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608866; MGI: 1917817; HomoloGene: 13852; GeneCards: FRA10AC1; OMA: FRA10AC1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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FRA10AC1 is a protein that in humans is encoded by the FRA10AC1 gene. [5]
The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hyper- methylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [5]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000148690 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054237 – 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.
- ^ a b "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".
- 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.
- Sarafidou T, Kahl C, Martinez-Garay I, et al. (2005). "Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein". Genomics. 84 (1): 69–81. doi: 10.1016/j.ygeno.2003.12.017. PMID 15203205.
- Yu Y, Zhang C, Zhou G, et al. (2001). "Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs". Genome Res. 11 (8): 1392–403. doi: 10.1101/gr.175501. PMC 311073. PMID 11483580.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it. |
| FRA10AC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FRA10AC1, C10orf4, F26C11.1-like, FRA10A, fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1, FRA10A associated CGG repeat 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608866; MGI: 1917817; HomoloGene: 13852; GeneCards: FRA10AC1; OMA: FRA10AC1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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FRA10AC1 is a protein that in humans is encoded by the FRA10AC1 gene. [5]
The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hyper- methylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [5]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000148690 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054237 – 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.
- ^ a b "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".
- 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.
- Sarafidou T, Kahl C, Martinez-Garay I, et al. (2005). "Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein". Genomics. 84 (1): 69–81. doi: 10.1016/j.ygeno.2003.12.017. PMID 15203205.
- Yu Y, Zhang C, Zhou G, et al. (2001). "Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs". Genome Res. 11 (8): 1392–403. doi: 10.1101/gr.175501. PMC 311073. PMID 11483580.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|
| This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it. |