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
- Involved in face morphogenesis. Predicted to localize to filamentous actin and microtubule organizing center. Human ortholog(s) of this gene implicated in Opitz-GBBB syndrome 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
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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Calponin homology domain | CH domain superfamily | F-actin Monooxygenase Mical |
|---|---|---|---|---|
|
UniProtKB:A0A286YBD4
|
1132 | |||
|
UniProtKB:A0A8M3AV87
|
1027 | |||
|
UniProtKB:Q2KN93
|
1132 |
| 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 |
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