FMR1 (FMRP translational regulator 1)

2011-08-01  

Identity

HGNC
FMR1
LOCATION
Xq27.3
LOCUSID
2332
ALIAS
FMRP,FRAXA,POF,POF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2332
MIM: 309550
HGNC: 3775
Ensembl: ENSG00000102081

Variants:

dbSNP: 2332
ClinVar: 2332
TCGA: ENSG00000102081
COSMIC: FMR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102081ENST00000218200Q06787
ENSG00000102081ENST00000334557Q8IXW7
ENSG00000102081ENST00000370470Q06787
ENSG00000102081ENST00000370471Q06787
ENSG00000102081ENST00000370475Q06787
ENSG00000102081ENST00000370477A8MQB8
ENSG00000102081ENST00000439526G3V0J0
ENSG00000102081ENST00000440235Q06787
ENSG00000102081ENST00000463120A0A087WXC0
ENSG00000102081ENST00000475038A0A087WWR6
ENSG00000102081ENST00000495717A0A087WY29
ENSG00000102081ENST00000616382A0A087WXI3
ENSG00000102081ENST00000616614A0A087WWU4
ENSG00000102081ENST00000621447A0A087X1M7
ENSG00000102081ENST00000621453R9WNI0
ENSG00000102081ENST00000621987Q8IXW7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379871172024Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.0
381100322024Complex interplay between FMRP and DHX9 during DNA replication stress.0
381243312024FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study.0
381428032024Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.0
385228372024FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.0
385404152024Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.1
385874862024LLPS of FXR proteins drives replication organelle clustering for β-coronaviral proliferation.2
386410862024Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant.0
387020112024Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.0
388624462024[High expression of fragile X mental retardation protein inhibits ferroptosis of colorectal tumor cells by activating the RAS/MAPK signaling pathway].0
379871172024Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.0
381100322024Complex interplay between FMRP and DHX9 during DNA replication stress.0
381243312024FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study.0
381428032024Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature.0
385228372024FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.0

Citation

Dessen P

FMR1 (FMRP translational regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52309