FMR1

GENERAL INFORMATION

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Gene name

FMR1

Gene description

Fragile X mental retardation 1

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

14
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Mainly cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
HPA050118 , HPA056084 , CAB012444
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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)

147911951 - 147951125

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000102081 (version 78.38)

Entrez gene

2332

UniProt

Q06787 (UniProt - Evidence at protein level)

neXtProt

NX_Q06787

Antibodypedia

FMR1 antibodies


PROTEIN BROWSER

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ENST00000218200
 
ENST00000334557
 
ENST00000370470
 
ENST00000370471
 
ENST00000370475
 
ENST00000370477
 
ENST00000439526
 
ENST00000440235
 
ENST00000463120
 
ENST00000495717
 
ENST00000616382
 
ENST00000621447
 
ENST00000621453
 
ENST00000621987
 
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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
FMR1-006 ENSP00000481474
ENST00000495717
Show » Show » 252 28.9 No 0
FMR1-007 ENSP00000480886
ENST00000463120
Show » Show » 119 13 No 0
FMR1-011 ENSP00000484324
ENST00000621447
Show » 31 3.5 No 0
FMR1-012 ENSP00000413764
ENST00000440235
Q06787
Show all »
Show » Show » 586 66.2 No 0
FMR1-201 ENSP00000218200
ENST00000218200
Q06787
Show all »
Show » Show » 611 69 No 0
FMR1-202 ENSP00000359502
ENST00000370471
G8JLE9
Show all »
Show » Show » 537 61 No 0
FMR1-203 ENSP00000481058
ENST00000616382
R9WPL0
Show all »
Show » Show » 419 47.9 No 0
FMR1-204 ENSP00000479528
ENST00000621453
R9WNI0
Show all »
Show » Show » 544 61.5 No 0
FMR1-205 ENSP00000477839
ENST00000621987
Q8IXW7
Show all »
Show » Show » 297 34.1 No 0