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
Gene location (Human)
Chr.	Chromosome 10 (human)
End	93,702,592 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	38,212,604 bp
RNA expression pattern
	Top expressed in
	internal globus pallidus; ; external globus pallidus; ; pancreatic epithelial cell; ; Achilles tendon; ; endothelial cell; ; germinal epithelium; ; Brodmann area 23; ; corpus callosum; ; Brodmann area 46; ; subthalamic nucleus;
	Top expressed in
	otolith organ; ; utricle; ; fossa; ; hand; ; condyle; ; yolk sac; ; Paneth cell; ; foot; ; islet of Langerhans; ; mirror;
	More reference expression data
	n/a
Orthologs
	118924
	70567
	ENSG00000148690
	ENSMUSG00000054237
	Q70Z53
	Q8BP78
NM_145246 ; NM_203438 ; NM_203439 ; NM_203440 ; NM_203441 ;
	NM_001347712 ; NM_001347713 ; NM_001347714 ; NM_001347715 Contents Function ; References ; Further reading ;
	NM_001081075 ; NM_027466
	NP_001334641 ; NP_001334642 ; NP_001334643 ; NP_001334644 ; NP_660289
	NP_001074544 ; NP_081742
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 18, 2022

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]

Related Research Articles

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, May 2017
1 2 3 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.
1 2 "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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: C10orf4 chromosome 10 open reading frame 4".

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FRA10AC1

Contents

Function

Related Research Articles

References

Further reading