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HUMAN:FMR1
Contents |
| Species (Taxon ID) | Homo sapiens (Human). ([1]) | |
| Gene Name(s) | FMR1 | |
| Protein Name(s) | Fragile X mental retardation 1 protein
FMRP Protein FMR-1 | |
| External Links | ||
| EMBL | L29074 L29074 L29074 CH471171 CH471171 CH471171 CH471171 CH471171 CH471171 BC086957 L29074 L29074 L29074 M67468 X69962 S65791 L19476 L19477 L19478 L19479 L19480 L19481 L19482 L19483 L19484 L19485 L19486 L19487 L19488 L19489 L19490 L19491 L19492 L19493 S76590 | |
| IPI | IPI00215720 IPI00215721 IPI00215723 IPI00215724 IPI00215725 IPI00412343 IPI00645666 IPI00783298 | |
| PIR | I68614 S45243 | |
| RefSeq | NP_001172004.1 NP_001172005.1 NP_001172010.1 NP_001172011.1 NP_002015.1 | |
| UniGene | Hs.103183 | |
| PDB | 2BKD 2FMR 2LA5 2QND | |
| PDBsum | 2BKD 2FMR 2LA5 2QND | |
| ProteinModelPortal | Q06787 | |
| SMR | Q06787 | |
| DIP | DIP-29022N DIP-29509N | |
| IntAct | Q06787 | |
| MINT | MINT-108156 | |
| STRING | Q06787 | |
| PhosphoSite | Q06787 | |
| PRIDE | Q06787 | |
| Ensembl | ENST00000370475 | |
| GeneID | 2332 | |
| KEGG | hsa:2332 | |
| UCSC | uc004fck.2 uc010nst.1 | |
| CTD | 2332 | |
| GeneCards | GC0XP135963 | |
| H-InvDB | HIX0028374 | |
| HGNC | HGNC:3775 | |
| HPA | CAB012444 | |
| MIM | 300623 300624 309550 311360 | |
| neXtProt | NX_Q06787 | |
| Orphanet | 908 93256 619 261483 | |
| PharmGKB | PA28191 | |
| eggNOG | prNOG08842 | |
| HOGENOM | HBG717761 | |
| HOVERGEN | HBG005739 | |
| InParanoid | Q06787 | |
| OMA | TFHKIKL | |
| PhylomeDB | Q06787 | |
| NextBio | 9465 | |
| ArrayExpress | Q06787 | |
| Bgee | Q06787 | |
| CleanEx | HS_FMR1 | |
| Genevestigator | Q06787 | |
| GermOnline | ENSG00000102081 | |
| GO | GO:0005737 GO:0005845 GO:0005730 GO:0005654 GO:0005625 GO:0003729 GO:0005515 GO:0051028 GO:0045947 | |
| InterPro | IPR008395 IPR022034 IPR004087 IPR004088 IPR018111 | |
| KO | K15516 | |
| Pfam | PF05641 PF12235 PF00013 | |
| SMART | SM00322 | |
| PROSITE | PS50084 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0003723 |
RNA binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0003723 |
RNA binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0003723 |
RNA binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0003723 |
RNA binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0003723 |
RNA binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0003723 |
RNA binding |
IEA: Inferred from Electronic Annotation |
F |
Seeded From UniProt |
||||
| GO:0003723 |
RNA binding |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0003729 |
mRNA binding |
TAS: Traceable Author Statement |
|
F |
Seeded From UniProt |
|||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005625 |
soluble fraction |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000085906 |
C |
Seeded From UniProt |
|||
| GO:0005654 |
nucleoplasm |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005730 |
nucleolus |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0188 |
C |
Seeded From UniProt |
|||
| GO:0005730 |
nucleolus |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0086 |
C |
Seeded From UniProt |
|||
| GO:0005737 |
cytoplasm |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0005845 |
mRNA cap binding complex |
ISS: Inferred from Sequence or Structural Similarity |
C |
Seeded From UniProt |
||||
| GO:0006810 |
transport |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0007417 |
central nervous system development |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000085906 |
P |
Seeded From UniProt |
|||
| GO:0045947 |
negative regulation of translational initiation |
ISS: Inferred from Sequence or Structural Similarity |
P |
Seeded From UniProt |
||||
| GO:0051028 |
mRNA transport |
IEA: Inferred from Electronic Annotation |
P |
Seeded From UniProt |
||||
| GO:0042788 |
polysomal ribosome |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0007417 |
central nervous system development |
IMP: Inferred from Mutant Phenotype |
P |
Figures 2 and 3. Fragile X syndrome is usually the result of an expanded trinucleotide array of the FMR1 gene; this case shows evidence that it can also manifest due to a de novo deletion within the FMR1 gene. |
complete | |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Siomi H et al. (1994) Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell 77: 33-9 PubMed GONUTS page
- ↑ Ashley CT Jr et al. (1993) FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262: 563-6 PubMed GONUTS page
- ↑ 3.0 3.1 Bardoni B et al. (1999) A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. Hum Mol Genet 8: 2557-66 PubMed GONUTS page
- ↑ 4.0 4.1 Schenck A et al. (2001) A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A 98: 8844-9 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 Ramos A et al. (2006) The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. Structure 14: 21-31 PubMed GONUTS page
- ↑ Devys D et al. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 4: 335-40 PubMed GONUTS page
- ↑ Tamanini F et al. (2000) The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Hum Mol Genet 9: 1487-93 PubMed GONUTS page
- ↑ Bardoni B et al. (2003) 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Hum Mol Genet 12: 1689-98 PubMed GONUTS page
- ↑ Hirst M et al. (1995) Two new cases of FMR1 deletion associated with mental impairment. Am J Hum Genet 56: 67-74 PubMed GONUTS page
