Gene

macf1a

ID
ZDB-GENE-030131-3606
Name
microtubule actin crosslinking factor 1a
Symbol
macf1a Nomenclature History
Previous Names
  • acf7a (1)
  • macf1
  • fc46g01
  • magellan (1)
  • mgn (1)
  • si:rp71-45k5.7
  • wu:fc46g01
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Is predicted to enable structural molecule activity. Involved in organelle disassembly. Acts upstream of or within oocyte animal/vegetal axis specification. Located in cell cortex and mitochondrial cloud. Predicted to colocalize with intermediate filament. Is expressed in hair cell anterior macula; inner ear; macula; oocyte stage I; and posterior crista. Human ortholog(s) of this gene implicated in lissencephaly 9 with complex brainstem malformation. Orthologous to human MACF1 (microtubule actin crosslinking factor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With macf1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
lissencephaly 9 with complex brainstem malformation Alliance Lissencephaly 9 with complex brainstem malformation 618325
Associated With macf1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR018247 EF-Hand 1, calcium-binding site
Conserved_site IPR001589 Actinin-type actin-binding domain, conserved site
Domain IPR001452 SH3 domain
Domain IPR001715 Calponin homology domain
Domain IPR002048 EF-hand domain
Domain IPR003108 GAR domain
Domain IPR041573 Desmoplakin, spectrin-like domain
Domain IPR041615 Desmoplakin, SH3 domain
Family IPR043197 Plakin
Homologous_superfamily IPR011992 EF-hand domain pair
Homologous_superfamily IPR036534 GAR domain superfamily
Homologous_superfamily IPR036872 CH domain superfamily
Repeat IPR002017 Spectrin repeat
Repeat IPR018159 Spectrin/alpha-actinin
Domain Details Per Protein
Protein Length Actinin-type actin-binding domain, conserved site Calponin homology domain CH domain superfamily Desmoplakin, SH3 domain Desmoplakin, spectrin-like domain EF-Hand 1, calcium-binding site EF-hand domain EF-hand domain pair GAR domain GAR domain superfamily Plakin SH3 domain Spectrin/alpha-actinin Spectrin repeat
UniProtKB:E9QFS3 5397
UniProtKB:K7DYG8 228
UniProtKB:F1RA35 5754
UniProtKB:K7DY63 214
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