FMR1 Gene
protein-coding GIFtS: 66
GCID: GC0XP146993
|
|
fragile X mental retardation 1(Previous name: premature ovarian failure 1 )
(Previous symbols: POF1, POF)
| |
Aliases
for FMR1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Fragile X Mental Retardation 11 2 | | Protein FMR-12 3 | | FMRP1 2 3 | | MGC874581 | | FRAXA1 2 5 | | Premature Ovarian Failure 11 | | POF1 2 | | Fragile X Mental Retardation 1 Protein2 | | POF11 2 | | Fragile X Mental Retardation Protein 12 |
| External Ids: | HGNC: 37751 | Entrez Gene: 23322 | Ensembl: ENSG000001020817 | OMIM: 3095505 | UniProtKB: Q067873 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n409339 | |
Export aliases for FMR1 gene to outside databasesPrevious GC identifers: GC0XP141519 GC0XP143827 GC0XP144850 GC0XP145661 GC0XP146699 GC0XP146801 GC0XP135963
Summaries
for FMR1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FMR1:
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved inmRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotiderepeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variantsthat encode different protein isoforms and which are located in different cellular locations have been described forthis gene. (provided by RefSeq, May 2010)
UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787Function: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediatestranslational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (Bysimilarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translationof target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to thecytoplasm. 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
|
Genomic Views
for FMR1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011681.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FMR1 gene promoter:
SRF NF-1 AP-2alpha isoform 3 SRF (504 AA) FOXD1 AP-2alpha isoform 2 IRF-7A AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors
Search SABiosciences Chromatin IP Primers for FMR1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FMR1 |
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: Xq27.3FMR1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP146993: view genomic region
(about GC identifiers)
Start:
|
146,993,469 bp from pter |
End:
|
147,032,647 bp from pter |
Size:
|
39,179 bases |
Orientation:
|
plus strand |
|
Proteins
for FMR1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787 (See
protein sequence)Recommended Name: Fragile X mental retardation protein 1 Size: 632 amino acids; 71174 Da
Subunit: Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complexin the brain (By similarity). Homooligomer. Found in a RNP granule complex with IGF2BP1. Directly interacts with SMNand TDRD3. Interacts with the SMN core complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6,GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 and RANBP9
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 innontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via alternatemRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome. Asn-304 mutationmaps to a position within the second KH domain of FMRP that is critical for stabilizing sequence-specific RNA-proteininteractions. 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; Note=Translation N-terminally shortened;Sequence=AAA62466.1; Type=Erroneous gene model prediction; Sequence=AAA62467.1; Type=Erroneous gene model prediction;
4 PDB 3D structures from  and Proteopedia  for FMR1:2BKD (3D)
2FMR (3D)
2LA5 (3D)
2QND (3D)
Secondary accessions: A6NNH4 D3DWT0 D3DWT1 D3DWT2 Q16578 Q5PQZ6 Q99054Alternative splicing: 8 isoforms: Q06787-1 Q06787-2 Q06787-3 Q06787-4 Q06787-5 Q06787-6 Q06787-7 Q06787-8 Explore the universe of human proteins at neXtProt for FMR1: NX_Q06787
Post-translational modifications:
Phosphorylated on several serine residues (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q06787
FMR1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001172004.1 NP_001172005.1 NP_001172010.1 NP_001172011.1 NP_002015.1
ENSEMBL proteins: ENSP00000359508 ENSP00000359506 ENSP00000355115 ENSP00000395923 ENSP00000359501 ENSP00000218200 ENSP00000359502 ENSP00000413764
Human Recombinant Protein Products:
Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table
FMR1 for ontologies About GeneDecksing
FMR1 Antibody Products:
Assay Products for FMR1: |
Protein
Domains /
Families
for FMR1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FMR1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q06787ProtoNet protein and cluster: Q06787 3 Blocks protein families: IPB004087 KH domain IPB004088 KH IPB008395 Agenet
UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787Domain: The tandem Tudor domains preferentially recognize trimethylated histone peptides (By similarity)Similarity: Belongs to the FMR1 familySimilarity: Contains 2 Agenet-like domainsSimilarity: Contains 2 KH domains |
Function
for FMR1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787Function: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediatestranslational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (Bysimilarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translationof target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to thecytoplasm. 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 andheterodimerizing with FXR1,FXR2 (see symbols),expressed in fetal and adult brain and testis
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FMR1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FMR1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): FMR1 (NM_002024) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FMR1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FMR1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FMR1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
FMR1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for FMR1:
Animal Models:
Mouse knock-outs for FMR1: Fmr1tm1Cgr Fmr1tm1.1Cidz
7 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Fmr1):
FMR1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for FMR1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | | | 2 | Translational Control | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 
Cell Signaling Technology (CST) Pathways for FMR1
FMR1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FMR1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/148 Interacting proteins for FMR1 (Q067871, 2, 3 ENSP000003595064) via UniProtKB, MINT, STRING, and/or I2D (see all 148)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| NCL | P193382, 3, ENSP000003181954 | MINT-6488791 I2D:
score=4 STRING: ENSP00000318195 | | FXR2 | P511162, 3, ENSP000002501134 | MINT-6488791 I2D:
score=3 STRING: ENSP00000250113 | | HABP4 | Q5JVS02, 3, ENSP000003643984 | MINT-8194397 I2D:
score=1 STRING: ENSP00000364398 | | CYFIP1 | Q7L5761, 2, 3, ENSP000003245494 | EBI-366305,EBI-1048143 MINT-19272 MINT-19271 MINT-19273 I2D:
score=7 STRING: ENSP00000324549 | | CYFIP2 | Q96F071, 2, 3, ENSP000003909484 | EBI-366305,EBI-2433893 MINT-15317 MINT-15318 I2D:
score=5 STRING: ENSP00000390948 |
About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007417 | central nervous system development |
IEA | -- | | GO:0045947 | negative regulation of translational initiation |
ISS | -- | | GO:0051028 | mRNA transport |
IEA | -- |
FMR1 for ontologies About GeneDecksing
|
Drugs & Compounds
for FMR1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
FMR1 for compounds About GeneDecksing
 Browse Tocris compounds for FMR1
10/23 Novoseek chemical compound relationships for FMR1 gene (see all 23) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ecori |
46.4 |
6 |
1710175 (2), 10601577 (1), 1642231 (1), 9490298 (1) |
| sodium bisulfite |
41.8 |
2 |
17259243 (1), 18172867 (1) |
| cytosine |
39.5 |
6 |
8197163 (1), 8268919 (1), 9199556 (1), 10319871 (1) (see all 5) |
| hpaii |
25.4 |
3 |
8826444 (2), 1605194 (1) |
| glutamate |
25 |
20 |
15028757 (2), 16647847 (1), 18957214 (1), 19017158 (1) (see all 12) |
| 5-aza-2'deoxycytidine |
23.3 |
11 |
10545613 (2), 18622267 (1), 10319871 (1) |
| acetyl-l-carnitine |
21.8 |
1 |
12807975 (1) |
| agarose |
3.45 |
1 |
8530006 (1) |
| creatinine |
1.1 |
1 |
15338463 (1) |
| calcium |
0.223 |
2 |
15028757 (1) |
Search CenterWatch for drugs/clinical trials and news about FMR1
|
Transcripts
for FMR1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FMR1 gene (5 alternative transcripts): NM_001185075.1 NM_001185076.1 NM_001185081.1 NM_001185082.1 NM_002024.5 Unigene Cluster for FMR1: Fragile X mental retardation 1 Hs.103183 [show with all ESTs]Unigene Representative Sequence: AB20918813 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000370477 ENST00000370475(uc011mxa.2 uc004fcl.4) ENST00000334557(uc011mwz.2)
ENST00000439526 ENST00000495717 ENST00000370470 ENST00000475038 ENST00000492846
ENST00000463120 ENST00000478848 ENST00000218200(uc004fcj.3 uc010nst.3 uc022cgd.1 uc004fck.4 uc022cge.1 uc022cgg.1)
ENST00000370471(uc022cgc.1 uc022cgf.1) ENST00000440235
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FMR1 (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FMR1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): FMR1 (NM_002024) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FMR1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FMR1 |
Additional cDNA sequence: AB209188.1 AK294104.1 AK302707.1 BC038998.1 BC086957.1 M67468.1 NR_033699.1 NR_033700.1 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.92429946 DT.100785805 DT.75109144 DT.75178900 24/161 AceView cDNA sequences (see all 161): BM955874 BQ287827 AL120230 BM981866 BF055997 AU139964 AI478824 BM715918 AI953545 AI985139 BM757464 BF593035 AI262950 AI632532 BU520771 BM674238 AL119734 BM701283 AU137845 AW001682 BF592098 BX498094 AU136101 AA648969
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for FMR1 (see all 11) About this scheme
| 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: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for FMR1
|
Expression
for FMR1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FMR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGTTTTTAA
About this image
See FMR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FMR1
SOURCE GeneReport for Unigene cluster: Hs.103183
UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787Tissue specificity: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed inepithelial tissues and at very low levels in glial cells
SABiosciences Custom PCR Arrays for FMR1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FMR1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FMR1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FMR1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FMR1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FMR1 |
Orthologs
for FMR1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FMR1 gene from 5/21 species (see all 21) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
FMR11 |
fragile X mental retardation 1 |
85.68(n)
92.22(a) |
|
422395 XM_003641126.1 XP_003641174.1 |
lizard
(Anolis carolinensis) |
Reptilia |
FMR16 |
-- |
87(a) |
1 ↔ 1 |
AAWZ02036280(7573-21430) |
African clawed frog
(Xenopus laevis) |
Amphibia |
U25164.12 |
-- |
79.24(n) |
|
U25164.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
AF305882.12 |
-- |
78.95(n) |
|
259191 AF305882.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Fmr13 |
negative regulation of translation mRNA
binding |
45(a) |
|
-- |
ENSEMBL Gene Tree for FMR1 (if available)
TreeFam Gene Tree for FMR1 (if available) |
Paralogs
for FMR1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FMR1 gene
- FXR12 FXR22
2 SIMAP similar genes for FMR1 using alignment to 8 protein entries: FMR1_HUMAN (see all proteins):FXR1 FXR2
FMR1 for paralogs About GeneDecksing
|
Genomic Variants
for FMR1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FMR1 (146993469 - 147032647 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FMR1
1 CNV: 3272
Human Gene Mutation Database (HGMD): FMR1
Locus Specific Mutation Databases (LSDB): FMR1
| SABiosciences Cancer Mutation PCR Assays |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing FMR1: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FMR1 |
|
Disorders
/ Diseases
for FMR1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FMR1 for disorders About GeneDecksing
OMIM gene information: 309550
OMIM disorders: 300624 300623
UniProtKB/Swiss-Prot: FMR1_HUMAN, Q06787
Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome is a commongenetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mentalretardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocularspeech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which isdirectly in front of the coding region Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]. In FXTAS, the expandedrepeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions withgreater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutationtypically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physicalfeatures 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 ovariandisorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrheaor amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol
20/55  diseases for FMR1 (see all 55): About MalaCardspremature ovarian failure fragile x syndrome fragile x-associated tremor/ataxia syndrome fragile x-associated primary ovarian insufficiency
attention deficit hyperactivity disorder prader-willi syndrome beckwith-wiedemann syndrome williams-beuren syndrome
social cognition developmental disabilities short stature essential tremor
friedreich ataxia tremor multiple system atrophy myositis ossificans
testicular germ cell tumor myotonic dystrophy germ cell tumor spinocerebellar ataxia
6 diseases from the University of Copenhagen DISEASES database for FMR1:Fragile X syndrome Intellectual disability Premature ovarian failure Autistic disorder
Neurodegenerative disease Ovarian dysfunction 10/49 Novoseek disease relationships for FMR1 gene (see all 49) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fragile x syndrome |
99 |
674 |
7726157 (5), 10331602 (5), 11814427 (4), 10870330 (4) (see all 99) |
| mental retardation |
95.4 |
686 |
15475576 (4), 12447812 (3), 19849940 (3), 17136426 (3) (see all 99) |
| fraxa syndrome |
86.7 |
4 |
12883656 (1), 8593539 (1), 18616611 (1) |
| ovarian failure premature |
84.1 |
29 |
19041959 (3), 16275254 (2), 19373114 (2), 11299521 (2) (see all 22) |
| fraxe syndrome |
80.6 |
2 |
17506108 (1), 14526173 (1) |
| chromosome fragility |
68.8 |
3 |
8499907 (2), 8844096 (1) |
| autistic |
62.3 |
33 |
11450815 (4), 16700053 (3), 14755444 (2), 15000256 (2) (see all 15) |
| parkinsonism |
58.3 |
20 |
19204162 (4), 15390127 (2), 18273822 (2), 19796183 (2) (see all 9) |
| developmental delay |
56.3 |
2 |
16275254 (1), 10424820 (1) |
| cognitive deficit |
55.3 |
12 |
19368811 (2), 19796132 (1), 10748416 (1), 19574928 (1) (see all 8) |
GeneTests: FMR1
FMR1-Related Disorders
Genetic Association Database (GAD): FMR1
Human Genome Epidemiology (HuGE) Navigator: FMR1 (108 documents)
Export disorders for FMR1 gene to outside databases
|
Publications
for FMR1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FMR1 gene, integrated from 9 sources (see all 724):
(articles sorted by number of sources associating them with FMR1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- FXR1, an autosomal homolog of the fragile X mental retardation gene. (PubMed id 7781595)1, 2, 9 Siomi M.C....Dreyfuss G. (1995)
- Characterization of FMR1 proteins isolated from different tissues. (PubMed id 7633450)1, 2, 9 Verheij C.... Hoogeveen A.T. (1995)
- The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. (PubMed id 8401578)1, 2, 9 Devys D.... Mandel J.-L. (1993)
- The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. (PubMed id 7688265)1, 2, 9 Siomi H.... Dreyfuss G. (1993)
- Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. (PubMed id 11119302)1, 4, 9 Sharma D....Thelma B.K. (2001)
- FMR1 protein: conserved RNP family domains and selective RNA binding. (PubMed id 7692601)1, 2, 9 Ashley C.T. Jr.... Warren S.T. (1993)
- 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, 2, 9 Menon R.P.... Pastore A. (2004)
- 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. (PubMed id 12837692)1, 2, 9 Bardoni B.... Mandel J.-L. (2003)
- Implications of the FMR1 gene in menopause: study of 147 Spanish women. (PubMed id 11256870)1, 4, 9 Mallolas J....Mila M. (2001)
- Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. (PubMed id 15805463)1, 2, 9 Darnell J.C.... Darnell R.B. (2005)
|
External Searches for FMR1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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|
Genome Databases showing FMR1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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|
Other Databases showing FMR1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FMR1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FMR1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FMR1 |
|
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About This Section
| Patent Information for FMR1 gene:
Search GeneIP for patents involving FMR1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for FMR1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 | |
 |
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