FRA10AC1

FRA10AC1 is a protein that in humans is encoded by the FRA10AC1 gene.[5]

FRA10AC1
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
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q23.33 Start 93,667,883 bp[1] End 93,702,592 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 C2 Start 38,188,481 bp[2] End 38,224,156 bp[2]
Orthologs
Species	Human	Mouse
Entrez	118924	70567
Ensembl	ENSG00000148690	ENSMUSG00000054237
UniProt	Q70Z53	Q8BP78
RefSeq (mRNA)	NM_145246 NM_203438 NM_203439 NM_203440 NM_203441 NM_001347712 NM_001347713 NM_001347714 NM_001347715	NM_001081075 NM_027466
RefSeq (protein)	NP_001334641 NP_001334642 NP_001334643 NP_001334644 NP_660289	NP_001074544 NP_081742
Location (UCSC)	Chr 10: 93.67 – 93.7 Mb	Chr 19: 38.19 – 38.22 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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]

References

1. GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000054237 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".

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.
• 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.