Gene

fmr1

ID

ZDB-GENE-020731-6

Name

fragile X messenger ribonucleoprotein 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. 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. Is expressed in central nervous system; neurons; and testis. Orthologous to human FMR1 (FMRP translational regulator 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:66179 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 27 figures from 7 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
primary ovarian insufficiency 1	Alliance	Premature ovarian failure 1	311360

Associated With fmr1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
fragile X syndrome	fmr1^{hu2787/hu2787} (AB)	control	Kim et al., 2014
fragile X syndrome	fmr1^sib7/sib7 (AB)	standard conditions	Hu et al., 2020
fragile X syndrome	fmr1^{hu2787/hu2787}	standard conditions	(3)
autism spectrum disorder	fmr1^{hu2787/hu2787} (AB)	control	Kim et al., 2014

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 messenger ribonucleoprotein 1-like, C-terminal core
Domain	IPR032196	Fragile X messenger ribonucleoprotein 1, C-terminal region 2
Domain	IPR040472	Synaptic functional regulator FMRP, KH0 domain
Domain	IPR041560	FMR1, tudor domain
Domain	IPR047431	Fragile X messenger ribonucleoprotein 1, first Tudor-like Agenet domain
Domain	IPR047436	Fragile X messenger ribonucleoprotein 1, second Tudor-like Agenet domain
Domain	IPR047440	Fragile X messenger ribonucleoprotein 1, second type I K homology domain
Family	IPR040148	Fragile X messenger ribonucleoprotein 1
Homologous_superfamily	IPR036612	K Homology domain, type 1 superfamily