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
Predicted to have structural molecule activity. Involved in oocyte animal/vegetal axis specification and organelle disassembly. Localizes to cell cortex and mitochondrial cloud. Predicted to colocalize with intermediate filament. Human ortholog(s) of this gene implicated in lissencephaly. Is expressed in hair cell anterior macula; inner ear; macula; oocyte stage I; and posterior crista. 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 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 IPR035915 Plakin repeat superfamily
Homologous_superfamily IPR036534 GAR domain superfamily
Homologous_superfamily IPR036872 CH domain superfamily
Repeat IPR001101 Plectin repeat
Repeat IPR002017 Spectrin repeat
Repeat IPR018159 Spectrin/alpha-actinin
Repeat IPR049538 Plectin-like, spectrin-like repeat
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 Plakin repeat superfamily Plectin-like, spectrin-like repeat Plectin repeat SH3 domain Spectrin/alpha-actinin Spectrin repeat
UniProtKB:A0A8M3ASP2 8221
UniProtKB:A0A8M3AL27 7933
UniProtKB:A0A8M3B3N5 8112
UniProtKB:A0A8M3ASP9 8045
UniProtKB:A0A8M9PGN1 8021
UniProtKB:A0A8M6YTZ6 8253
UniProtKB:A0A8M6Z2F9 8221
UniProtKB:A0A8M6YU02 8080
UniProtKB:A0A8M6YUL9 8063
UniProtKB:A0A8M6YUK6 8259
UniProtKB:A0A8M3AKC0 8189
UniProtKB:A0A8M6Z325 8084
UniProtKB:A0A8M9PB61 8200
UniProtKB:A0A8M6Z331 5648
UniProtKB:A0A8M3AVP3 8042
UniProtKB:A0A8M3AL24 8238
UniProtKB:A0A8M6Z318 8255
UniProtKB:A0A8M6Z2G6 8072
UniProtKB:A0A8M6YWG9 8059
UniProtKB:A0A8M6YUL3 8150
UniProtKB:A0A8M2B696 8248
UniProtKB:A0A8M6YWG4 8115
UniProtKB:A0A8M9P1Z8 8238
UniProtKB:A0A8M3AVN6 8227
UniProtKB:A0A8M6YWF8 8256
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