Gene

fmr1

ID
ZDB-GENE-020731-6
Name
FMRP translational regulator 1
Symbol
fmr1 Nomenclature History
Previous Names
  • zFMR1 (1)
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to have mRNA 3'-UTR binding activity; protein homodimerization activity; and translation regulator activity. Involved in several processes, including nervous system development; neural crest cell fate specification; and regulation of mRNA modification. Localizes to nucleus. Is expressed in central nervous system; neurons; and testis. Used to study autism spectrum disorder and fragile X syndrome. Human ortholog(s) of this gene implicated in fragile X syndrome; fragile X-associated tremor/ataxia syndrome; and premature ovarian failure. Orthologous to human FMR1 (FMRP translational regulator 1).
Genome Resources
Note
None
Expression
All Expression Data
8 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
22 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fmr1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
fragile X syndrome Alliance Fragile X syndrome 300624
fragile X-associated tremor/ataxia syndrome Alliance Fragile X tremor/ataxia syndrome 300623
premature ovarian failure Alliance Premature ovarian failure 1 311360
Associated With fmr1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR004087 K Homology domain
Domain IPR004088 K Homology domain, type 1
Domain IPR008395 Agenet-like domain
Domain IPR022034 Fragile X-related 1 protein, C-terminal core
Domain IPR032196 Fragile X-related mental retardation protein, C-terminal region 2
Domain IPR040472 Synaptic functional regulator FMRP, KH0 domain
Domain IPR041560 Fxr1, tudor domain
Family IPR040148 Fragile X mental retardation syndrome-related protein
Homologous_superfamily IPR036612 K Homology domain, type 1 superfamily
Domain Details Per Protein
Protein Length Agenet-like domain Fragile X mental retardation syndrome-related protein Fragile X-related 1 protein, C-terminal core Fragile X-related mental retardation protein, C-terminal region 2 Fxr1, tudor domain K Homology domain K Homology domain, type 1 K Homology domain, type 1 superfamily Synaptic functional regulator FMRP, KH0 domain
UniProtKB:Q7SYM7 493
UniProtKB:Q9DF20 569
UniProtKB:F1R159 569
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-fmr1 polyclonal Rabbit
  • IHC
  • WB
3
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations