FRA10AC1

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; OMA:FRA10AC1 - orthologs
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 38,176,929 bp [2] End 38,212,604 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii lateral nuclear group of thalamus internal globus pallidus pars reticulata external globus pallidus pars compacta pancreatic epithelial cell Achilles tendon endothelial cell germinal epithelium Top expressed in otolith organ utricle fossa hand primary oocyte tail of embryo genital tubercle neural layer of retina condyle yolk sac More reference expression data BioGPS n/a
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: 38.18 – 38.21 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. 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.