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FMR1 Gene

protein-coding GIFtS: 66

GC0XP146993

fragile X mental retardation 1
(Previous name: premature ovarian failure 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: POF1, POF)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
fragile X mental retardation 1¹ ²		Protein FMR-1² ³
FMRP¹ ² ³		POF1²
FRAXA¹ ² ⁵		POF²
premature ovarian failure 1¹ ²		fragile X mental retardation 1 protein²
MGC87458¹ ²

External Ids:	HGNC: 3775¹	Entrez Gene: 2332²	Ensembl: ENSG00000102081⁷	UniProtKB: Q06787³

Search outside databases for aliases for FMR1 gene

Previous GC identifers: GC0XP141519 GC0XP143827 GC0XP144850 GC0XP145661 GC0XP146699 GC0XP146801

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FMR1:

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). (provided by RefSeq)

UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787

Function: RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of

target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm.

Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C)

Gene Wiki entry for FMR1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FMR1 gene upstream (promoter) region

:
Arnt SREBP-1b SREBP-1c SREBP-1a c-Myc Max Max1 Cart-1 GATA-1 GATA-3

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for FMR1:

MePH28035-1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq27.3 Ensembl cytogenetic band: Xq27.3 HGNC cytogenetic band: Xq27.3

FMR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP146993: view genomic region (about GC identifiers)

Start:	146,993,481 bp from pter
End:	147,032,645 bp from pter
Size:	39,165 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.10 NT_011681.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787 (See protein sequence)

Recommended Name: Fragile X mental retardation 1 protein

Size: 632 amino acids; 71174 Da

Subunit: Homooligomer. Found in a RNP granule complex with IGF2BP1. Directly interacts with SMN and TDRD3. Interacts

with the SMN core complex that contains SMN1, SIP1/GEMIN2, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and

STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 and RANBP9. Interacts with CYFIP1 and CYFIP2

Subcellular location: Cytoplasm. Nucleus, nucleolus

Miscellaneous: RNA-binding activity is inhibited by RANBP9

Miscellaneous: The mechanism of the severe phenotype in the Asn-304 patient lies in the sequestration of bound mRNAs in

nontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via alternate

mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome. Asn-304 mutation

maps to a position within the second KH domain of FMRP that is critical for stabilizing sequence-specific RNA-protein

interactions. Asn-304 mutation abrogates the association of the FMRP KH 2 domain with its target, kissing complex RNA

Sequence caution: Sequence=AAA52458.1; Type=Erroneous initiation; Sequence=AAA62466.1; Type=Erroneous gene model

prediction; Sequence=AAA62467.1; Type=Erroneous gene model prediction;

PDB structures from and Proteopedia :

2BKD (3D)

2FMR (3D)

2QND (3D)

Secondary accessions: A6NNH4 Q16578 Q5PQZ6 Q99054

Alternative splicing: 8 isoforms: Q06787-1 Q06787-2 Q06787-3 Q06787-4 Q06787-5 Q06787-6 Q06787-7 Q06787-8

(At least 12 different isoforms are produced)

Post-translational modifications:

Phosphorylated on several serine residues (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_002015.1

ENSEMBL proteins:

ENSP00000359506 ENSP00000355115 ENSP00000395923 ENSP00000359501 ENSP00000359508 ENSP00000413764

ENSP00000218200 ENSP00000359502

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	HuPro® and/or Recombinant Proteins from Abnova for FMR1
	Origene Purified Recombinant Human Protein: FMR1
	Novus Biologicals Proteins for FMR1
	Browse Sino Biological Recombinant Proteins

5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	TAS	8401578
GO:0005634	nucleus	IEA	--
GO:0005654	nucleoplasm	TAS	10888599
GO:0005730	nucleolus	TAS	16407062
GO:0005737	cytoplasm	TAS	16407062

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FMR1 for ontologies About GeneDecksing

Antibodies for FMR1:

	Millipore Mono- and Polyclonal Antibodies for the study of FMR1
	Sigma-Aldrich Antibodies for FMR1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for FMR1 (FMRP)
	Monoclonal and Polyclonal Antibodies from Abnova (FMR1)
	Browse Origene Antibodies
	Novus Biologicals Antibodies for FMR1
	Browse antibodies at Epitomics

Assays for FMR1:

	Millipore Kits and Assays for the Analysis of FMR1
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Browse Enzo Life Sciences for kits & assays

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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FMR1 for domains About GeneDecksing

5 InterPro domains/families:

IPR018111 KH_type_1_subgr

IPR004087 KH

IPR008395 Agenet

IPR022034 FXR1P_C

IPR004088 KH_type_1

Graphical View of Domain Structure for InterPro Entry Q06787

ProtoNet protein and cluster: Q06787

3 Blocks protein families:

IPB004087 KH domain

IPB004088 KH

IPB008395 Agenet

UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787

Similarity: Belongs to the FMR1 family

Similarity: Contains 2 KH domains

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FMR1)
		Origene 29mer shRNA kits in GFP-retroviral vector: FMR1 Origene shRNA RFP: FMR1 Origene basic RS shRNA: FMR1
		Applied Biosystems Silencer® siRNAs for FMR1
		Sigma-Aldrich siRNA Panels and siRNA for FMR1 Sigma-Aldrich shRNA for FMR1 Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector: FMR1 Origene Myc/DDK tagged cDNA clones in CMV expression vector: FMR1 Origene untagged cDNA clones in CMV expression vector: FMR1
		Browse Sino Biological Human cDNA Clones

UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787

Function: RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of

target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm.

Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C)

Genatlas biochemistry entry for FMR1:

FRAXA syndrome nucleocytoplasmic shuttling protein with a 5'utr polymorphic CGG repeat homodimerizing and

heterodimerizing with FXR1,FXR2 (see symbols),expressed in fetal and adult brain and testis

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	TAS	8156595
GO:0003729	mRNA binding	TAS	7692601
GO:0005515	protein binding	IPI	10556305 16407062

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FMR1 for ontologies About GeneDecksing

Animal Models: 8 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Fmr1):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	hearing/vestibular/ear
nervous system	reproductive system	touch/vibrissae

FMR1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FMR1

5/128 Interacting proteins for FMR1 (Q06787² ENSP00000359506³) via UniProtKB, MINT, and/or STRING (see all 128 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CYFIP2	Q96F07², ENSP00000366799³	MINT-15317 MINT-15318 STRING: ENSP00000366799
FXR2	P51116², ENSP00000250113³	MINT-6488791 STRING: ENSP00000250113
CYFIP1	Q7L576²	MINT-19272 MINT-19271 MINT-19273
ATAD3B	Q5T9A4²	MINT-6488791
COPA	P53621²	MINT-6488791

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2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	IEA	--
GO:0051028	mRNA transport	IEA	--

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FMR1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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FMR1 for compounds About GeneDecksing

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FMR1
10/78 Novoseek chemical compound relationships for FMR1 gene (see all 78 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
smr 2	32.46	12	11606532 (4), 10835389 (4), 9349708 (3), 8264541 (1)
5-aza-2'deoxycytidine	5.90	9	9384610 (2), 12136110 (2), 10545613 (2), 18622267 (1) (see all 6)
3-aminopropyl-cyclohexylmethylphosphinic acid	2.44	1	19351745 (1)
hpaii	2.37	3	8826444 (2), 1605194 (1)
mpep	2.36	3	19799873 (1), 18832330 (1), 15684045 (1)
dihydroxyphenylglycine	2.13	1	11416194 (1)
cytosine	1.88	7	9302255 (1), 9199556 (1), 8268919 (1), 8197163 (1) (see all 7)
ecori	1.34	5	1710175 (2), 9490298 (1), 1642231 (1), 10601577 (1)
sodium bisulfite	1.12	2	18172867 (1), 17259243 (1)
tmpyp4	1.10	1	12853612 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FMR1)
		Applied Biosystems Silencer® siRNAs: NM_002024
		Origene 29mer shRNA kits in GFP-retroviral vector: FMR1 Origene shRNA RFP: FMR1 Origene basic RS shRNA: FMR1
		Sigma-Aldrich siRNA Panels and siRNA for FMR1 Sigma-Aldrich shRNA for FMR1 Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:		10/55 SABiosciences microRNAs that regulate FMR1 (see all 55 ):
		hsa-miR-323-3p hsa-miR-429 hsa-miR-450a hsa-miR-24-1* hsa-miR-25 hsa-miR-139-5p hsa-miR-200a hsa-miR-485-3p hsa-miR-301a hsa-miR-374a

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_002024

Clones:

Origene GFP tagged cDNA clones in CMV expression vector: FMR1
Origene Myc/DDK tagged cDNA clones in CMV expression vector: FMR1
Origene untagged cDNA clones in CMV expression vector: FMR1

Primers:		Origene genome-wide validated SYBR primer pairs: FMR1
		SABiosciences RT2 qPCR Primer Assay for FMR1: PPH00500A

REFSEQ mRNAs for FMR1 gene:

NM_002024.4

Additional cDNA sequence:

AB209188.1 AK294104.1 AK302707.1 BC038998.1 BC086957.1 M67468.1 S65791.1 X69962.1

13 DOTS entries:

DT.121316665 DT.86847141 DT.92429942 DT.91907648 DT.40210980 DT.97781416 DT.100785804 DT.101973945

DT.121316661 DT.75178900 DT.92429946 DT.100785805 DT.75109144

24/161 AceView cDNA sequences (see all 161 ):

BF592098 BM955874 BX498094 AA648969 AU136101 AL120230 BM981866 AU139964

AI478824 BF055997 AU137845 BM715918 AI985139 AI953545 BF593035 BM757464

AI262950 AI632532 BM674238 BU520771 AL119734 BM701283 AW001682 BQ287827

highest scoring ESTs for FMR1:

AA878956 M67468 X69962 AA134552 AA134558 AA151709 AA151811 AA280303 AA281812 AA463496

Unigene Cluster for FMR1:

Fragile X mental retardation 1

Hs.103183 [show with all ESTs]

Unigene Representative Sequence: AB209188

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for FMR1 (see all 11 )

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	^	10	^	11	^	12a	·	12b	^	13a	·	13b	^	14	^	15a	·	15b	^	16	^
SP1:							-								-
SP2:																																			-
SP3:																																			-
SP4:							-
SP5:																																			-

ExUns:	17a	·	17b	·	17c	·	17d	^	18	^	19	^	20a	·	20b	·	20c
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for FMR1

13 Ensembl transcripts including schematic representations:

ENST00000370475 ENST00000334557 ENST00000439526 ENST00000370470 ENST00000370477 ENST00000495717

ENST00000463120 ENST00000478848 ENST00000475038 ENST00000492846 ENST00000440235 ENST00000218200

ENST00000370471

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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FMR1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FMR1

¹ / ² / ³

8 probe-sets matching FMR1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37994_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.88	X69962	1.00	1.00	1.00	1
37995_s_at²^{, 3}	U95-A	1	1.00	1.00	0.90	0.87	M67468	1.00	1.00	1.00	1
88124_at²^{, 3}	U95-E	1	1.00	1.00	0.91	1.18	AA878956	1.00	1.00	1.00	1
74648_at²^{, 3}	U95-D	1	0.88	1.00	0.94	1.08	AI989858	0.60	1.00	0.82	1
203689_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI743037	0.80	1.00	0.91	1
215245_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA830884	0.80	1.00	0.91	1
203689_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215245_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

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FMR1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: ATGTTTTTAA

SOURCE GeneReport for Unigene cluster: Hs.103183

Expression variation in blood from EXPOLDB for FMR1

UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787

Tissue specificity: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in

epithelial tissues and at very low levels in glial cells

Primers:		Origene genome-wide validated SYBR primer pairs: FMR1
		SABiosciences RT2 qPCR Primer Assay for FMR1: PPH00500A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for FMR1 gene from 5/12 species (see all 12 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FMR1¹	--	fragile X mental retardation 1	95.83(n) 97.47(a)	481070 XM_861525.1 XP_866618.1
chimpanzee (Pan troglodytes)	FMR1¹	--	fragile X mental retardation 1	99.62(n) 99.84(a)	465894 XM_521294.2 XP_521294.2
cow (Bos taurus)	FMR1¹	--	fragile X mental retardation 1	94.83(n) 96.2(a)	507482 XM_584093.3 XP_584093.3
rat (Rattus norvegicus)	Fmr1¹	--	fragile X mental retardation 1	94.72(n) 97.25(a)	24948 NM_052804.1 NP_434691.1
mouse (Mus musculus)	Fmr1^{1, 5}	X (24.50 cM)⁵	fragile X mental retardation syndrome 1 homolog^{1, 5}	95.06(n)¹ 96.91(a)¹	14265¹ NM_008031.2¹ NP_032057.2¹ AF170530⁵ AF251347⁵ (see all 15)

About this table Species with no ortholog for FMR1

ENSEMBL Gene Tree for FMR1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for FMR1 gene

FXR1² FXR2²

FMR1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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10/87 NCBI SNPs in FMR1 are shown (see all 87 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 91)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--				--
	rs971000^1,2	C,F,A,H	135962222(-)	`gaaagC/Tatagt`	1	--	ng5¹		7		NS EA MN NA	440
	rs25725^1,2	C,F,H	135963212(+)	`ATAATT/CAGCTA`	1	--	ng5¹		5		MN NS EA	438
	rs29281^1,2	C,F,H	147011480(+)	`AAGAGG/TCGGCA`	2	A S	ref¹ mis¹		10		MN NS EA NA	923
	rs25704^1,2	C,F,O	147031538(+)	`AATAAC/TAACTT`	1	--	ut3¹		6		MN NS EA	618
	rs25726^1,2	C,F,O	135963769(+)	`TTTGAA/GGTTCT`	1	--	ng5¹		7		MN NS EA NA	624
	rs25724^1,2	C,A	135993583(+)	`TTGATG/TTAAAC`	1	--	ng3¹		0	--	--	--	--
	rs25703^1,2	C,H	135993641(+)	`GGAATT/CGACTA`	1	--	ng3¹		4		NS EA	398
	rs1270093^1,2	C,H	135961933(-)	`TATAGA/GACATG`	1	--	ng5¹		4		MN NA	192
	rs2187601^1,2	H	147022137(+)	`GCATCG/CCTAAT`	2	/P /A	mis¹ ref¹ ese³		4		NS EA	406
	rs29292^1,2	C	147032587(+)	`CTGAAA/GATTGT`	1	--	ut3¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for FMR1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FMR1
1 CNV: 3272

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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FMR1 for disorders About GeneDecksing

OMIM: 309550 disorders: 300624 300623

UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787

Defects in FMR1 are the cause of fragile X syndrome. [MIM:300624]. It is a common genetic disease (has a

prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation,

macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect

in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of

the coding region

Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]. In FXTAS, the expanded

repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with

greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation

typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical

features of fragile X syndrome or mild cognitive and emotional problems

Defects in FMR1 are the cause of premature ovarian failure syndrome type 1 (POF1) [MIM:311360]. An ovarian

disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea

or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol

10/147 Novoseek disease relationships for FMR1 gene (see all 147 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fragile x syndrome	100.00	906	16003114 (6), 7726157 (5), 10331602 (5), 8668200 (4) (see all 100)
mental retardation	100.00	657	17136426 (4), 15475576 (4), 9030614 (3), 20122915 (3) (see all 100)
ataxia	100.00	102	17917121 (5), 19377084 (4), 17179750 (4), 19864489 (3) (see all 65)
fraxa	91.88	43	12883656 (10), 9450853 (3), 8673085 (2), 18616611 (2) (see all 29)
ovarian failure premature	72.41	52	17428316 (6), 16361284 (5), 16078053 (5), 11256870 (5) (see all 25)
trinucleotide repeat expansion	28.13	16	8750357 (2), 9624140 (1), 9208564 (1), 7732383 (1) (see all 15)
fraxe	23.22	13	8844096 (2), 8673085 (2), 9415473 (1), 9341861 (1) (see all 11)
autistic behavior	18.23	11	11450815 (4), 16700053 (3), 15551333 (2), 17097142 (1) (see all 5)
mental retardation, x-linked	15.91	13	9399905 (1), 9391887 (1), 9326332 (1), 8651263 (1) (see all 13)
fxtas	14.98	6	19235102 (2), 19806593 (1), 19574928 (1), 19105204 (1) (see all 5)

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GeneTests: FMR1

FMR1-Related Disorders

Locus Specific Mutation Databases: FMR1
Human Gene Mutation Database: FMR1
Genetic Association Database: FMR1
Human Genome Epidemiology Navigator: FMR1 (93 documents)

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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/558 PubMed articles for FMR1 gene (see all 558 ):

Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. (PubMed id 11119302)^{1, 3, 6} Sharma D....Thelma B.K. (2001)
The C-terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre. (PubMed id 15381419)^{1, 3, 4} Menon R.P.... Pastore A. (2004)
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. (PubMed id 16078053)^{1, 3, 6} Bretherick K.L....Robinson W.P. (2005)
Visualization of RNA-protein interactions in living cells: FMRP and IMP1 interact on mRNAs. (PubMed id 15282548)^{1, 3, 4} Rackham O. and Brown C.M. (2004)
Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. (PubMed id 15805463)^{1, 3, 4} Darnell J.C.... Darnell R.B. (2005)
Implications of the FMR1 gene in menopause: study of 147 Spanish women. (PubMed id 11256870)^{1, 3, 6} Mallolas J....Mila M. (2001)
Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP. (PubMed id 18664458)^{1, 3, 4} Linder B....Fischer U. (2008)
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (PubMed id 15956167)^{1, 3, 6} Biancalana V....Durr A. (2005)
Association of FMR1 repeat size with ovarian dysfunction. (PubMed id 15608041)^{1, 3, 6} Sullivan A.K....Sherman S.L. (2005)
Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. (PubMed id 15000256)^{1, 3, 6} Shinahara K....Kuroda Y. (2004)

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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2332	HGNC: 3775	AceView: FMR1	Ensembl:ENSG00000102081	euGenes: HUgn2332
ECgene: FMR1	H-InvDB: FMR1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FMR1

Intellectual Property for FMR1 gene
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Patent Information for FMR1 gene:

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