Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8087
Gene name Gene Name - the full gene name approved by the HGNC.
FMR1 autosomal homolog 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FXR1
Synonyms (NCBI Gene) Gene synonyms aliases
CMYO9A, CMYO9B, CMYP9A, CMYP9B, FXR1P, MYOPMIL, MYORIBF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMYO9A, CMYO9B
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.33
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs769011065 AAAA>-,AAA,AAAAA Pathogenic Coding sequence variant, intron variant, frameshift variant
rs1577005361 ACAG>- Pathogenic Frameshift variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022502 hsa-miR-124-3p Proteomics 18668037
MIRT025398 hsa-miR-34a-5p Proteomics 21566225
MIRT028542 hsa-miR-30a-5p Proteomics 18668040
MIRT045986 hsa-miR-125b-5p CLASH 23622248
MIRT045421 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0001934 Process Positive regulation of protein phosphorylation IBA 21873635
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003730 Function MRNA 3'-UTR binding IBA 21873635
GO:0005515 Function Protein binding IPI 7489725, 11157796, 15380484, 16571602, 24981860, 26949739, 31413325
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600819 4023 ENSG00000114416
Protein
UniProt ID P51114
Protein name RNA-binding protein FXR1 (FMR1 autosomal homolog 1) (hFXR1p)
Protein function mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis (PubMed:17382880, PubMed:20417602, PubMed:30067974, Pu
PDB 2CPQ , 3KUF , 3O8V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18336 Tudor_FRX1 4 52 Fragile X mental retardation Tudor domain Domain
PF05641 Agenet 62 117 Agenet domain Domain
PF17904 KH_9 123 207 FMRP KH0 domain Domain
PF00013 KH_1 283 353 KH domain Domain
PF12235 FXMRP1_C_core 354 380 Fragile X-related 1 protein core C terminal Family
PF12235 FXMRP1_C_core 378 456 Fragile X-related 1 protein core C terminal Family
PF16096 FXR_C1 460 535 Fragile X-related 1 protein C-terminal region 2 Family
PF16097 FXR_C3 554 620 Fragile X-related 1 protein C-terminal region 3 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined including heart, brain, kidney and testis (PubMed:7781595, PubMed:9259278). In brain, present at high level in neurons and especially in the Purkinje cells at the interface between the granular layer a
Sequence
Sequence length 621
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Signaling by BRAF and RAF fusions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
30285260, 26198764, 31374203, 31268507, 29483656
Unknown
Disease term Disease name Evidence References Source
Myopathy myopathy, congenital proximal, with minicore lesions, myopathy, congenital, with respiratory insufficiency and bone fractures GenCC
Congenital myopathy congenital myopathy GenCC
Mastocytosis Mastocytosis GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 33871026
Amyotrophic lateral sclerosis 1 Associate 33871026
Autism Spectrum Disorder Associate 30559470
Autistic Disorder Associate 33863995
Bipolar Disorder Associate 26433762, 28242499
Brain Diseases Associate 30167849
Carcinogenesis Associate 35194031
Carcinoma Hepatocellular Stimulate 37517087
Carcinoma Non Small Cell Lung Associate 32951448
Cardiovascular Abnormalities Associate 27357083