Gene
hcfc1a
- ID
- ZDB-GENE-030912-10
- Name
- host cell factor C1a
- Symbol
- hcfc1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable transcription coactivator activity. Acts upstream of or within brain development. Predicted to be located in cytoplasm and nucleus. Predicted to be part of histone methyltransferase complex. Human ortholog(s) of this gene implicated in methylmalonic acidemia and homocysteinemia cblX type. Orthologous to human HCFC1 (host cell factor C1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7159458 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 9 figures from Castro et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| co60 | Allele with one delins | Exon 3 | Premature Stop | CRISPR | |
| co64 | Allele with one delins | Exon 3 | Unknown | CRISPR | |
| la017800Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la027259Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa21913 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-hcfc1a | (2) | |
| CRISPR2-hcfc1a | LaCoursiere et al., 2024 | |
| CRISPR3-hcfc1a | LaCoursiere et al., 2024 | |
| MO1-hcfc1a | N/A | Quintana et al., 2014 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| methylmalonic acidemia and homocysteinemia cblX type | Alliance | Methylmalonic aciduria and homocysteinemia, cblX type | 309541 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Fibronectin type III | Fibronectin type III superfamily | Host cell factor | Immunoglobulin-like fold | Kelch-type beta propeller |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AXL2 | InterPro | 1802 | |||||
| UniProtKB:Q7SZY1 | InterPro | 1778 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hcfc1a-201
(1)
|
Ensembl | 6,964 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 | DKEY-13A21 | ||
| Contained in | BAC | DKEY-245F22 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-97E7 | ZFIN Curated Data | |
| Encodes | EST | fc61g09 | ||
| Encodes | EST | fj40c12 | ||
| Encodes | EST | IMAGE:7159458 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:158156 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:158300 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045064 (1) | 6952 nt | ||
| Genomic | GenBank:AL844847 (1) | 235174 nt | ||
| Polypeptide | UniProtKB:A0A8M3AXL2 (1) | 1802 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Castro, V.L., Paz, D., Virrueta, V., Estevao, I.L., Grajeda, B.I., Ellis, C.C., Quintana, A.M. (2023) Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes. Gene. 864:147290
- Castro, V.L., Reyes, J.F., Reyes-Nava, N.G., Paz, D., Quintana, A.M. (2020) Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain. BMC Neuroscience. 21:27
- 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
- Quintana, A.M., Geiger, E.A., Achilly, N., Rosenblatt, D.S., Maclean, K.N., Stabler, S.P., Artinger, K.B., Appel, B., Shaikh, T.H. (2014) Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating MMACHC expression. Developmental Biology. 396(1):94-106
- Pietri, T., Roman, A.C., Guyon, N., Romano, S.A., Washbourne, P., Moens, C.B., de Polavieja, G.G., and Sumbre, G. (2013) The first mecp2-null zebrafish model shows altered motor behaviors. Frontiers in neural circuits. 7:118
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Harden, M.V., Newton, L.A., Lloyd, R.C., Whitlock, K.E. (2006) Olfactory imprinting is correlated with changes in gene expression in the olfactory epithelia of the zebrafish. Journal of neurobiology. 66(13):1452-1466
- Coimbra, R.S., Weil, D., Brottier, P., Blanchard, S., Levi, M., Hardelin, J.-P., Weissenbach, J., and Petit, C. (2002) A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear. Genome research. 12(6):1007-1011
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