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 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
-
- 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 |
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 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 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
macf1a-202
(1)
|
Havana | 18608 nt | |
| mRNA |
macf1a-203
(1)
|
Havana | 684 nt | |
| mRNA |
macf1a-204
(1)
|
Havana | 898 nt |
Interactions and Pathways
No data available
Plasmids
No data available