FMR1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

FMR1

Aliases

FMRP, FRAXA, POF, POF1

Entrez Gene ID

2332

Gene Name

FMRP translational regulator 1

Chromosomal Location

Xq27.3

HGNC ID

HGNC:3775

Summary

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

RefSeq DNA

NG_007529.2

RefSeq mRNA

NR_033699.2, NR_033700.2, NM_002024.6, NM_001185075.1, NM_001185076.1, NM_001185081.2, NM_001185082.2, NM_002024.5

e!Ensembl

Gene	ENSG00000102081
Transcript	ENST00000440235, ENST00000616614, ENST00000370477, ENST00000334557, ENST00000439526, ENST00000370475, ENST00000621447, ENST00000495717, ENST00000370470, ENST00000475038, ENST00000463120, ENST00000218200, ENST00000370471, ENST00000621453, ENST00000616382, ENST00000621987
Protein	ENSP00000413764, ENSP00000480513, ENSP00000359508, ENSP00000355115, ENSP00000395923, ENSP00000359506, ENSP00000484324, ENSP00000481474, ENSP00000359501, ENSP00000480450, ENSP00000480886, ENSP00000218200, ENSP00000359502, ENSP00000479528, ENSP00000481058, ENSP00000477839

Gene Ontology (GO)

Show/Hide all(90 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000381	Biological process	Regulation of alternative mRNA splicing, via spliceosome	IBA	21873635
GO:0000381	Biological process	Regulation of alternative mRNA splicing, via spliceosome	IDA	18653529
GO:0001934	Biological process	Positive regulation of protein phosphorylation	IBA	21873635
GO:0002092	Biological process	Positive regulation of receptor internalization	IDA	25561520
GO:0006974	Biological process	Cellular response to DNA damage stimulus	IDA	24813610
GO:0007417	Biological process	Central nervous system development	IBA	21873635
GO:0008089	Biological process	Anterograde axonal transport	IBA	21873635
GO:0017148	Biological process	Negative regulation of translation	IBA	21873635
GO:0033129	Biological process	Positive regulation of histone phosphorylation	IDA	24813610
GO:0043488	Biological process	Regulation of mRNA stability	IBA	21873635
GO:0044830	Biological process	Modulation by host of viral RNA genome replication	IMP	24514761
GO:0045727	Biological process	Positive regulation of translation	IBA	21873635
GO:0045727	Biological process	Positive regulation of translation	IDA	19097999, 19166269
GO:0048814	Biological process	Regulation of dendrite morphogenesis	IBA	21873635
GO:0051489	Biological process	Regulation of filopodium assembly	IBA	21873635
GO:0051489	Biological process	Regulation of filopodium assembly	IDA	16631377
GO:0060964	Biological process	Regulation of gene silencing by miRNA	IMP	25464849
GO:0060998	Biological process	Regulation of dendritic spine development	IBA	21873635
GO:0060998	Biological process	Regulation of dendritic spine development	IDA	16631377
GO:0098586	Biological process	Cellular response to virus	IDA	24514761
GO:0098908	Biological process	Regulation of neuronal action potential	IDA	25561520
GO:0099578	Biological process	Regulation of translation at postsynapse, modulating synaptic transmission	IBA	21873635
GO:1901254	Biological process	Positive regulation of intracellular transport of viral material	IMP	24514761
GO:1902373	Biological process	Negative regulation of mRNA catabolic process	IMP	25225333
GO:1902416	Biological process	Positive regulation of mRNA binding	IDA	25464849
GO:1905244	Biological process	Regulation of modification of synaptic structure	IBA	21873635
GO:2000637	Biological process	Positive regulation of gene silencing by miRNA	IDA	17057366
GO:2001022	Biological process	Positive regulation of response to DNA damage stimulus	IBA	21873635
GO:2001022	Biological process	Positive regulation of response to DNA damage stimulus	IDA	24813610
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	18936162
GO:0005654	Cellular component	Nucleoplasm	IDA	16571602
GO:0005730	Cellular component	Nucleolus	IDA	16571602, 24658146
GO:0005730	Cellular component	Nucleolus	TAS	16407062
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IDA	9659908, 15381419, 16571602, 18936162
GO:0005737	Cellular component	Cytoplasm	TAS	16407062
GO:0005844	Cellular component	Polysome	IBA	21873635
GO:0005844	Cellular component	Polysome	IDA	9659908, 19097999, 25464849, 25561520
GO:0014069	Cellular component	Postsynaptic density	IBA	21873635
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0019034	Cellular component	Viral replication complex	IDA	24514761
GO:0030424	Cellular component	Axon	IBA	21873635
GO:0030426	Cellular component	Growth cone	IBA	21873635
GO:0030426	Cellular component	Growth cone	IDA	15380484
GO:0032797	Cellular component	SMN complex	IDA	18093976
GO:0035770	Cellular component	Ribonucleoprotein granule	IBA	21873635
GO:0036464	Cellular component	Cytoplasmic ribonucleoprotein granule	IBA	21873635
GO:0036464	Cellular component	Cytoplasmic ribonucleoprotein granule	IDA	15121898, 15380484, 18093976
GO:0042788	Cellular component	Polysomal ribosome	TAS	12837692
GO:0042995	Cellular component	Cell projection	IDA	15380484
GO:0043005	Cellular component	Neuron projection	IDA	18093976
GO:0043025	Cellular component	Neuronal cell body	IBA	21873635
GO:0043197	Cellular component	Dendritic spine	IBA	21873635
GO:0043204	Cellular component	Perikaryon	IDA	15380484, 18093976
GO:0044326	Cellular component	Dendritic spine neck	IBA	21873635
GO:0048471	Cellular component	Perinuclear region of cytoplasm	IDA	24658146
GO:0071598	Cellular component	Neuronal ribonucleoprotein granule	IBA	21873635
GO:0098793	Cellular component	Presynapse	IBA	21873635
GO:1902737	Cellular component	Dendritic filopodium	IBA	21873635
GO:1990124	Cellular component	Messenger ribonucleoprotein complex	IDA	25225333
GO:1990904	Cellular component	Ribonucleoprotein complex	IDA	9659908, 19097999
GO:0002151	Molecular function	G-quadruplex RNA binding	IDA	18653529, 25464849
GO:0003723	Molecular function	RNA binding	HDA	22658674, 22681889
GO:0003723	Molecular function	RNA binding	IDA	15381419
GO:0003723	Molecular function	RNA binding	IMP	10496225, 25225333
GO:0003729	Molecular function	MRNA binding	IBA	21873635
GO:0003729	Molecular function	MRNA binding	IDA	11157796, 18936162, 25561520
GO:0003730	Molecular function	MRNA 3'-UTR binding	IBA	21873635
GO:0003730	Molecular function	MRNA 3'-UTR binding	IDA	17417632
GO:0005515	Molecular function	Protein binding	IPI	7489725, 10556305, 11157796, 11438699, 12837692, 15380484, 15381419, 16407062, 16571602, 18093976, 18936162, 21771594, 24514761, 24658146, 25225333, 25464849
GO:0008266	Molecular function	Poly(U) RNA binding	IDA	7688265, 8156595
GO:0030371	Molecular function	Translation repressor activity	IDA	11157796
GO:0031369	Molecular function	Translation initiation factor binding	IPI	24658146
GO:0033592	Molecular function	RNA strand annealing activity	IDA	17057366
GO:0034046	Molecular function	Poly(G) binding	IDA	7688265
GO:0035064	Molecular function	Methylated histone binding	IDA	24813610
GO:0035197	Molecular function	SiRNA binding	IDA	17057366
GO:0035198	Molecular function	MiRNA binding	IDA	17057366
GO:0035613	Molecular function	RNA stem-loop binding	IDA	15805463, 19166269
GO:0042802	Molecular function	Identical protein binding	IDA	11157796
GO:0042802	Molecular function	Identical protein binding	IPI	17850748, 21446998
GO:0042803	Molecular function	Protein homodimerization activity	IBA	21873635
GO:0042803	Molecular function	Protein homodimerization activity	IDA	7489725
GO:0043022	Molecular function	Ribosome binding	IPI	24658146
GO:0044325	Molecular function	Ion channel binding	IPI	25561520
GO:0045182	Molecular function	Translation regulator activity	IBA	21873635
GO:0046982	Molecular function	Protein heterodimerization activity	IDA	7489725
GO:0048027	Molecular function	MRNA 5'-UTR binding	IDA	19166269
GO:1990825	Molecular function	Sequence-specific mRNA binding	IDA	12927206, 23235829

Protein Information

Protein Name

Synaptic functional regulator FMR1, fragile X mental retardation 1, fragile X mental retardation protein 1, truncated FMRP

Function

Refseq Proteins

, NP_002015.1, NP_001172004.1, NP_001172005.1, NP_001172010.1, NP_001172011.1

UniProt

Q06787

PDB

2BKD, 2FMR, 2LA5, 2QND, 4OVA, 4QVZ, 4QW2, 5DE5, 5DE8, 5DEA, 5UWJ, 5UWO