Gene
hcfc1b
- ID
- ZDB-GENE-030131-2411
- Name
- host cell factor C1b
- Symbol
- hcfc1b Nomenclature History
- Previous Names
-
- fc07b09
- fe17f08
- wu:fc07b09
- wu:fe17f08
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable transcription coactivator activity. Acts upstream of or within chondrocyte differentiation and embryonic viscerocranium morphogenesis. 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
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la010756Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la016453Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa7624 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa34295 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38666 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38667 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-hcfc1b | LaCoursiere et al., 2024 | |
| CRISPR2-hcfc1b | LaCoursiere et al., 2024 | |
| MO1-hcfc1b | N/A | (2) |
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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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003961 | Fibronectin type III |
| Family | IPR043536 | Host cell factor |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR015915 | Kelch-type beta propeller |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Repeat | IPR006652 | Kelch repeat type 1 |
Domain Details Per Protein
| Protein | Additional Resources | Length | Fibronectin type III | Fibronectin type III superfamily | Host cell factor | Immunoglobulin-like fold | Kelch repeat type 1 | Kelch-type beta propeller |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BE35 | InterPro | 1990 | ||||||
| UniProtKB:A0A8M9Q3I3 | InterPro | 1958 | ||||||
| UniProtKB:A0A8M9PQY4 | InterPro | 1993 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hcfc1b-201
(1)
|
Ensembl | 7,799 nt | ||
| ncRNA |
hcfc1b-002
(1)
|
Ensembl | 776 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128537 (1) | 7799 nt | ||
| Genomic | GenBank:BX571687 (1) | 173448 nt | ||
| Polypeptide | UniProtKB:A0A8M9PQY4 (1) | 1993 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
- 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., Yu, H.C., Brebner, A., Pupavac, M., Geiger, E.A., Watson, A., Castro, V.L., Cheung, W., Chen, S.H., Watkins, D., Pastinen, T., Skovby, F., Appel, B., Rosenblatt, D.S., Shaikh, T.H. (2017) Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Human molecular genetics. 26(15):2838-2849
- 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
- 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
- Harvey, S.A., Sealy, I., Kettleborough, R., Fenyes, F., White, R., Stemple, D., and Smith, J.C. (2013) Identification of the zebrafish maternal and paternal transcriptomes. Development (Cambridge, England). 140(13):2703-2710
- 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
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