FMR1 (FMRP translational regulator 1)

2011-08-01  

Identity

HGNC
LOCATION
Xq27.3
LOCUSID
ALIAS
FMRP,FRAXA,POF,POF1
FUSION GENES

Other Information

Locus ID:

NCBI: 2332
MIM: 309550
HGNC: 3775
Ensembl: ENSG00000102081

Variants:

dbSNP: 2332
ClinVar: 2332
TCGA: ENSG00000102081
COSMIC: FMR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102081ENST00000218200Q06787
ENSG00000102081ENST00000334557Q8IXW7
ENSG00000102081ENST00000370470Q06787
ENSG00000102081ENST00000370471Q06787
ENSG00000102081ENST00000370475Q06787
ENSG00000102081ENST00000370477A8MQB8
ENSG00000102081ENST00000439526G3V0J0
ENSG00000102081ENST00000440235Q06787
ENSG00000102081ENST00000463120A0A087WXC0
ENSG00000102081ENST00000475038A0A087WWR6
ENSG00000102081ENST00000495717A0A087WY29
ENSG00000102081ENST00000616382A0A087WXI3
ENSG00000102081ENST00000616614A0A087WWU4
ENSG00000102081ENST00000621447A0A087X1M7
ENSG00000102081ENST00000621453R9WNI0
ENSG00000102081ENST00000621987Q8IXW7

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232358292012FMRP targets distinct mRNA sequence elements to regulate protein expression.254
158611802005From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome.211
115456902001FMR1 and the fragile X syndrome: human genome epidemiology review.210
147475032004Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.206
160550592005Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome.176
185702922008Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.162
156080412005Association of FMR1 repeat size with ovarian dysfunction.148
156080412005Association of FMR1 repeat size with ovarian dysfunction.148
145707122003Phosphorylation influences the translation state of FMRP-associated polyribosomes.141
212094112011Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.141

Citation

Dessen P

FMR1 (FMRP translational regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52309/fmr1