Gene
specc1lb
- ID
- ZDB-GENE-090423-1
- Name
- sperm antigen with calponin homology and coiled-coil domains 1-like b
- Symbol
- specc1lb Nomenclature History
- Previous Names
-
- cytsab
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Acts upstream of or within frontonasal suture morphogenesis. Predicted to be located in cytoplasm; gap junction; and spindle. Predicted to be part of filamentous actin. Predicted to be active in microtubule organizing center. Used to study orofacial cleft. Human ortholog(s) of this gene implicated in Teebi hypertelorism syndrome 1 and oblique facial clefting 1. Orthologous to human SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Gfrerer et al., 2014
- 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 |
|---|---|---|---|---|---|
| la011406Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa6665 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11703 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43597 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 4 of 4
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-specc1lb | N/A | Saadi et al., 2011 |
| MO2-specc1lb | N/A | (2) |
1 - 2 of 2
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| oblique facial clefting 1 | Alliance | ?Facial clefting, oblique, 1 | 600251 |
| Teebi hypertelorism syndrome 1 | Alliance | Teebi hypertelorism syndrome 1 | 145420 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| orofacial cleft | zf393Tg + MO2-specc1lb | standard conditions | Gfrerer et al., 2014 |
| orofacial cleft | WT + MO2-specc1lb | standard conditions | Gfrerer et al., 2014 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Calponin homology domain | CH domain superfamily | F-actin Monooxygenase Mical |
|---|---|---|---|---|---|
| UniProtKB:A0A8M9PD49 | InterPro | 1146 | |||
| UniProtKB:A0A8M9PIS7 | InterPro | 1145 | |||
| UniProtKB:E7FG55 | InterPro | 1121 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
specc1lb-201
(1)
|
Ensembl | 3,722 nt | ||
| mRNA |
specc1lb-202
(1)
|
Ensembl | 317 nt | ||
| mRNA |
specc1lb-203
(1)
|
Ensembl | 2,847 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-specc1l | polyclonal | Rabbit |
|
1 |
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-68C19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-156G19 |
1 - 2 of 2
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_005161102 (1) | 6870 nt | ||
| Genomic | GenBank:CU466275 (1) | 104457 nt | ||
| Polypeptide | UniProtKB:A0A8M9PD49 (1) | 1146 aa |
- 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
- Gfrerer, L., Shubinets, V., Hoyos, T., Kong, Y., Nguyen, C., Pietschmann, P., Morton, C.C., Maas, R.L., Liao, E.C. (2014) Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis. Plastic and reconstructive surgery. 134:748-759
- Gfrerer, L., Dougherty, M., and Liao, E.C. (2013) Visualization of Craniofacial Development in the sox10: kaede Transgenic Zebrafish Line Using Time-lapse Confocal Microscopy. Journal of visualized experiments : JoVE. (79):e50525
- 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
- Saadi, I., Alkuraya, F.S., Gisselbrecht, S.S., Goessling, W., Cavallesco, R., Turbe-Doan, A., Petrin, A.L., Harris, J., Siddiqui, U., Grix, A.W., Hove, H.D., Leboulch, P., Glover, T.W., Morton, C.C., Richieri-Costa, A., Murray, J.C., Erickson, R.P., and Maas, R.L. (2011) Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting. American journal of human genetics. 89(1):44-55
- 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
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
1 - 7 of 7
Show