FRA10AC1

FRA10AC1
Identifiers
AliasesFRA10AC1, 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 IDsMGI: 1917817 HomoloGene: 13852 GeneCards: FRA10AC1
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10q23.33Start93,667,883 bp[1]
End93,702,572 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

118924

70567

Ensembl

ENSG00000148690

ENSMUSG00000054237

UniProt

Q70Z53

Q8BP78

RefSeq (mRNA)

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 MbChr 19: 38.19 – 38.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000054237 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "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. 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.


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