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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ct68aGt | Transgenic insertion | Unknown | Unknown | DNA | |
| la011208Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la020792Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| p1CH1 | Allele with one deletion | Unknown | Exon Loss of Exon 5 | CRISPR | |
| p2CH1CH2 | Allele with one deletion | Unknown | Exon Loss of Exon 4 | CRISPR | |
| p3PRD | Allele with one deletion | Unknown | Exon Loss of Exon 36 | CRISPR | |
| p6cv | Allele with one deletion | Unknown | Frameshift, Premature Stop | not specified | |
| p11cv | Allele with one deletion | Unknown | Frameshift, Premature Stop | ENU | |
| p57bjta | unknown | Unknown | Unknown | not specified | |
| sa11432 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-macf1a | (2) | |
| CRISPR2-macf1a | (2) | |
| CRISPR3-macf1a | (2) | |
| CRISPR4-macf1a | (2) | |
| CRISPR5-macf1a | (2) |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 8221 | |||||||||||||||||
| UniProtKB:A0A8M3AL27 | InterPro | 7933 | |||||||||||||||||
| UniProtKB:A0A8M3B3N5 | InterPro | 8112 | |||||||||||||||||
| UniProtKB:A0A8M3ASP9 | InterPro | 8045 | |||||||||||||||||
| UniProtKB:A0A8M9PGN1 | InterPro | 8021 |
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| 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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-171A11 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-173J22 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-116A7 | ZFIN Curated Data | |
| Contained in | BAC | RP71-45K5 | ZFIN Curated Data | |
| Encodes | EST | fc46g01 | ||
| Encodes | EST | fa91g08 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068215299 (1) | 27973 nt | ||
| Genomic | GenBank:BX511004 (1) | 168626 nt | ||
| Polypeptide | UniProtKB:A0A8M6YUK6 (1) | 8259 aa |
- Zebrafish Nomenclature Committee (2025) Nomenclature Data Curation (2025). Nomenclature Committee Submission.
- Nguyen, H., Xie, J. (2019) Widespread Separation of the Polypyrimidine Tract From 3' AG by G Tracts in Association With Alternative Exons in Metazoa and Plants. Frontiers in genetics. 9:741
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Escobar-Aguirre, M., Zhang, H., Jamieson-Lucy, A., Mullins, M.C. (2017) Microtubule-actin crosslinking factor 1 (Macf1) domain function in Balbiani body dissociation and nuclear positioning. PLoS Genetics. 13:e1006983
- Pollock, L.M., Gupta, N., Chen, X., Luna, E.J., McDermott, B.M. (2016) Supervillin Is a Component of the Hair Cell's Cuticular Plate and the Head Plates of Organ of Corti Supporting Cells. PLoS One. 11:e0158349
- Wang, X., Zheng, Y., Zhang, Y., Li, J., Zhang, H., Wang, H. (2016) Effects of β-diketone antibiotic mixtures on behavior of zebrafish (Danio rerio). Chemosphere. 144:2195-2205
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Nolte, H., Hölper, S., Housley, M.P., Islam, S., Piller, T., Konzer, A., Stainier, D.Y., Braun, T., Krüger, M. (2015) Dynamics of zebrafish fin regeneration using a pulsed SILAC approach. Proteomics. 15(4):739-51
- Antonellis, P.J., Pollock, L.M., Chou, S.W., Hassan, A., Geng, R., Chen, X., Fuchs, E., Alagramam, K.N., Auer, M., and McDermott, B.M. (2014) ACF7 is a hair-bundle antecedent, positioned to integrate cuticular plate actin and somatic tubulin. The Journal of neuroscience : the official journal of the Society for Neuroscience. 34(1):305-312
- Ge, X., Grotjahn, D., Welch, E., Lyman-Gingerich, J., Holguin, C., Dimitrova, E., Abrams, E.W., Gupta, T., Marlow, F.L., Yabe, T., Adler, A., Mullins, M.C., Pelegri, F. (2014) Hecate/Grip2a acts to reorganize the cytoskeleton in the symmetry-breaking event of embryonic axis induction. PLoS Genetics. 10(6):e1004422
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