Gene
macf1a
- ID
- ZDB-GENE-030131-3606
- Name
- microtubule actin crosslinking factor 1a
- Symbol
- macf1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable structural molecule activity. Involved in organelle disassembly. Acts upstream of or within oocyte animal/vegetal axis specification. Is active in cell cortex and mitochondrial cloud. 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
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
macf1a-201
(1)
|
Ensembl | 16,194 nt | ||
| mRNA |
macf1a-202
(1)
|
Ensembl | 18,608 nt | ||
| mRNA |
macf1a-203
(1)
|
Ensembl | 684 nt | ||
| mRNA |
macf1a-204
(1)
|
Ensembl | 898 nt |
Interactions and Pathways
No data available
Plasmids
No data available