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 type II 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 | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
specc1la-201
(1)
|
Havana | 3950 nt | |
| mRNA |
specc1la-202
(1)
|
Ensembl | 7167 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