Gene

fxr1

ID

ZDB-GENE-030131-5431

Name

FMR1 autosomal homolog 1

Symbol

fxr1 Nomenclature History

Previous Names

wu:fb16f11
wu:fd18c10

Type

protein_coding_gene

Location

Chr: 22 Mapping Details/Browsers

Description

Predicted to have mRNA 3'-UTR binding activity; protein homodimerization activity; and translation regulator activity. Involved in animal organ development; muscle fiber development; and somitogenesis. Predicted to localize to several cellular components, including dendrite; polysome; and postsynaptic density. Is expressed in several structures, including adaxial cell; heart; musculature system; neurons; and skeletal muscle myoblast. Orthologous to human FXR1 (FMR1 autosomal homolog 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

14 figures from 4 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:66226 (11 images)
eu176 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With fxr1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
congenital myopathy 9A	Alliance	?Congenital myopathy 9A with respiratory insufficiency and bone fractures	618822
congenital myopathy 9B	Alliance	Congenital myopathy 9B, proximal, with minicore lesions	618823

Associated With fxr1 Via Experimental Models

No data available

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	IPR032172	Fragile X-related protein 1, C-terminal region 1
Domain	IPR032177	Fragile X-related 1 protein, C-terminal region 3
Domain	IPR040472	Synaptic functional regulator FMRP, KH0 domain
Domain	IPR041560	FMR1, tudor domain
Domain	IPR047425	RNA-binding protein FXR1, first Tudor-like Agenet domain
Domain	IPR047427	RNA-binding protein FXR1, second Tudor-like Agenet domain
Domain	IPR047494	RNA-binding protein FXR1, first type I K homology domain
Domain	IPR047495	RNA-binding protein FXR1, second type I K homology domain
Domain	IPR047496	RNA-binding protein FXR2, third type I K homology domain
Family	IPR040148	Fragile X messenger ribonucleoprotein 1
Homologous_superfamily	IPR036612	K Homology domain, type 1 superfamily

Domain Details Per Protein

Protein	Length	Agenet-like domain	FMR1, tudor domain	Fragile X messenger ribonucleoprotein 1	Fragile X messenger ribonucleoprotein 1-like, C-terminal core	Fragile X-related 1 protein, C-terminal region 3	Fragile X-related protein 1, C-terminal region 1	K Homology domain	K Homology domain, type 1	K Homology domain, type 1 superfamily	RNA-binding protein FXR1, first Tudor-like Agenet domain	RNA-binding protein FXR1, first type I K homology domain	RNA-binding protein FXR1, second Tudor-like Agenet domain	RNA-binding protein FXR1, second type I K homology domain	RNA-binding protein FXR2, third type I K homology domain	Synaptic functional regulator FMRP, KH0 domain
UniProtKB:A0A9F7TY55 InterPro	648
UniProtKB:F1QLR3 InterPro	622

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	fxr1-201 (1) Ensembl	Ensembl	2,737 nt	Select Tool
mRNA	fxr1-203 (1) Ensembl	Ensembl	2,753 nt	Select Tool
ncRNA	fxr1-004 (1) Ensembl	Ensembl	669 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-fxr1	polyclonal	fxr1		Rabbit	IHC WB		2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations