FMR1

GENE INFORMATION

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Gene name

FMR1 (HGNC Symbol)

Synonyms

FMRP, FRAXA, MGC87458, POF, POF1

Description

Fragile X mental retardation 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

X

Cytoband

q27.3

Chromosome location (bp)

146993469 - 147032645

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000102081 (version 75.37)

Entrez gene

2332

UniProt

Q06787 (UniProt - Evidence at protein level)

neXtProt

NX_Q06787

Antibodypedia

FMR1 antibodies
 

PROTEIN VIEW

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FMR1-001
 
FMR1-002
 
FMR1-003
 
FMR1-004
 
FMR1-005
 
FMR1-201
 
FMR1-202
 
FMR1-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FMR1-001 ENSP00000359506
ENST00000370475
Q06787
Show all »
Show » Show » 632 71.2 No 0
FMR1-002 ENSP00000355115
ENST00000334557
Q8IXW7
Show all »
Show » Show » 297 34.1 No 0
FMR1-003 ENSP00000395923
ENST00000439526
G3V0J0
Show all »
Show » Show » 592 66.8 No 0
FMR1-004 ENSP00000359501
ENST00000370470
Q06787
Show all »
Show » Show » 590 66.5 No 0
FMR1-005 ENSP00000359508
ENST00000370477
A8MQB8
Show all »
Show » Show » 582 65.8 No 0
FMR1-201 ENSP00000218200
ENST00000218200
G8JL90
Show all »
Show » Show » 611 69 No 0
FMR1-202 ENSP00000359502
ENST00000370471
G8JLE9
Show all »
Show » Show » 537 61 No 0
FMR1-203 ENSP00000413764
ENST00000440235
F8W871
Show all »
Show » Show » 262 29 No 0