Community Action Needed: Please respond to the NIH RFI
Gene

fhl1a

ID
ZDB-GENE-040206-1
Name
four and a half LIM domains 1a
Symbol
fhl1a Nomenclature History
Previous Names
  • fhla
  • zgc:92025
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to enable transmembrane transporter binding activity. Acts upstream of or within heart development; locomotory behavior; and skeletal muscle satellite cell differentiation. Located in Z disc. Is expressed in several structures, including adaxial cell; blastomere; heart rudiment; musculature system; and pericardial region. Used to study myopathy. Human ortholog(s) of this gene implicated in Uruguay faciocardiomusculoskeletal syndrome; X-linked Emery-Dreifuss muscular dystrophy 6; reducing body myopathy 1A; and reducing body myopathy 1B. Orthologous to human FHL1 (four and a half LIM domains 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
19 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
14 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With fhl1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
reducing body myopathy 1A Alliance Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset 300717
reducing body myopathy 1B Alliance Reducing body myopathy, X-linked 1b, with late childhood or adult onset 300718
scapuloperoneal myopathy Alliance Scapuloperoneal myopathy, X-linked dominant 300695
Uruguay faciocardiomusculoskeletal syndrome Alliance ?Uruguay faciocardiomusculoskeletal syndrome 300280
X-linked Emery-Dreifuss muscular dystrophy 6 Alliance Emery-Dreifuss muscular dystrophy 6, X-linked 300696
X-linked Emery-Dreifuss muscular dystrophy 6 Alliance Myopathy, X-linked, with postural muscle atrophy 300696
Associated With fhl1a Via Experimental Models
Human Disease Fish Conditions Citations
myopathy WT + MO3-fhl1a standard conditions Ke├čler et al., 2018
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001781 Zinc finger, LIM-type
Family IPR037987 Four and a half LIM domains protein 2/3/5
Domain Details Per Protein
Protein Length Four and a half LIM domains protein 2/3/5 Zinc finger, LIM-type
UniProtKB:A0A2R8Q5D9 289
UniProtKB:Q9W6K4 104
UniProtKB:Q6GQL7 297
UniProtKB:A0A140LFQ9 281
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations