Gene
specc1la
- ID
- ZDB-GENE-060810-139
- Name
- sperm antigen with calponin homology and coiled-coil domains 1-like a
- Symbol
- specc1la Nomenclature History
- Previous Names
-
- specc1l
- cytsaa
- im:7159316
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Acts upstream of or within face 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. 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
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7159316 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Gfrerer et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa41239 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-specc1la | N/A | Saadi et al., 2011 |
| MO2-specc1la | N/A | Gfrerer et al., 2014 |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Calponin homology domain | CH domain superfamily | F-actin Monooxygenase Mical |
|---|---|---|---|---|---|
| UniProtKB:A0A286YBD4 | InterPro | 1132 | |||
| UniProtKB:A0A8M3AV87 | InterPro | 1027 | |||
| UniProtKB:Q2KN93 | InterPro | 1132 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
specc1la-201
(1)
|
Ensembl | 3,950 nt | ||
| mRNA |
specc1la-202
(1)
|
Ensembl | 7,167 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-specc1l | polyclonal | Rabbit |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-118G10 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7159316 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001039816 (1) | 3950 nt | ||
| Genomic | GenBank:AL953914 (1) | 151737 nt | ||
| Polypeptide | UniProtKB:A0A286YBD4 (1) | 1132 aa |
- 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
- 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
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