Fragile X Mental Retardation 1 (FMR1) is a RNA-binding protein that is associated to polysomes. Studies suggest this protein is involved in the transport of mRNA from the nucleus to the cytoplasm. Defects in FMR1 are the cause of Fragile X syndrome, which is a common genetic disease characterized by moderate to severe mental retardation, macroorchidism, 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.
Product Information
Format
Purified
Control
Raji cell lysate
Presentation
Purified mouse monoclonal IgMκ in buffer containing PBS with 0.05% sodium azide.
Applications
Application
Anti-FMR1 Antibody, clone 7H3.2 is a Mouse Monoclonal Antibody for detection of FMR1 also known as Fragile X mental retardation 1 protein, FMRP & has been validated in WB, ICC.
Key Applications
Western Blotting
Immunocytochemistry
Application Notes
Immunocytochemistry Analysis: 1:250 dilution from a representative lot detected FMR1 in HeLa and A431 cells.
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].
FUNCTION: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). 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).
SUBUNIT STRUCTURE: Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complex in the brain (By similarity). 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.
TISSUE SPECIFICTY: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells.
PTM: Phosphorylated on several serine residues (By similarity).
INVOLVEMENT IN DISEASE: Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome 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.
MISCELLANEOUS: RNA-binding activity is inhibited by RANBP9.
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 SIMILARITIES: Belongs to the FMR1 family.
Contains 2 KH domains.
SEQUENCE CAUTION: The sequence AAA52458.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAA62466.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence AAA62467.1 differs from that shown. Reason: Erroneous gene model prediction.
Product Usage Statements
Quality Assurance
Evaluated by Western Blot in Raji cell lysate.
Western Blot Analysis: 1:50,000 dilution of this antibody detected FMR1 on 10 µg of Raji cell lysate.
Usage Statement
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Storage and Shipping Information
Storage Conditions
Stable for 1 year at 2-8°C from date of receipt.
Packaging Information
Material Size
100 µL
原厂资料：
Key Spec Table
Species Reactivity
Key Applications
Host
Format
Antibody Type
H
WB, ICC
M
Purified
Monoclonal Antibody
Description
Catalogue Number
05-1235
Description
Anti-FMR1 Antibody, clone 7H3.2
Alternate Names
Fragile X mental retardation 1 protein
Protein FMR-1
FMRP
Background Information
Fragile X Mental Retardation 1 (FMR1) is a RNA-binding protein that is associated to polysomes. Studies suggest this protein is involved in the transport of mRNA from the nucleus to the cytoplasm. Defects in FMR1 are the cause of Fragile X syndrome, which is a common genetic disease characterized by moderate to severe mental retardation, macroorchidism, 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.
Product Information
Format
Purified
Control
Raji cell lysate
Presentation
Purified mouse monoclonal IgMκ in buffer containing PBS with 0.05% sodium azide.
Applications
Application
Anti-FMR1 Antibody, clone 7H3.2 is a Mouse Monoclonal Antibody for detection of FMR1 also known as Fragile X mental retardation 1 protein, FMRP & has been validated in WB, ICC.
Key Applications
Western Blotting
Immunocytochemistry
Application Notes
Immunocytochemistry Analysis: 1:250 dilution from a representative lot detected FMR1 in HeLa and A431 cells.
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].
FUNCTION: Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). 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).
SUBUNIT STRUCTURE: Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complex in the brain (By similarity). 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.
TISSUE SPECIFICTY: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells.
PTM: Phosphorylated on several serine residues (By similarity).
INVOLVEMENT IN DISEASE: Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome 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.
MISCELLANEOUS: RNA-binding activity is inhibited by RANBP9.
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 SIMILARITIES: Belongs to the FMR1 family.
Contains 2 KH domains.
SEQUENCE CAUTION: The sequence AAA52458.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence AAA62466.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence AAA62467.1 differs from that shown. Reason: Erroneous gene model prediction.
Product Usage Statements
Quality Assurance
Evaluated by Western Blot in Raji cell lysate.
Western Blot Analysis: 1:50,000 dilution of this antibody detected FMR1 on 10 µg of Raji cell lysate.
Usage Statement
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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