Gene
sptan1
- ID
- ZDB-GENE-051113-60
- Name
- spectrin alpha, non-erythrocytic 1
- Symbol
- sptan1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Involved in clustering of voltage-gated sodium channels. Localizes to node of Ranvier and paranode region of axon. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 5. Is expressed in several structures, including cranial ganglion; eye; fin; immature eye; and post-vent region. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 11 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 11 | 620528 |
| developmental and epileptic encephalopathy 5 | Alliance | Developmental and epileptic encephalopathy 5 | 613477 |
| Developmental delay with or without epilepsy | 620540 | ||
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 620538 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR014837 | EF-hand, Ca insensitive |
| Domain | IPR035825 | Alpha Spectrin, SH3 domain |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Length | Alpha Spectrin, SH3 domain | EF-Hand 1, calcium-binding site | EF-hand, Ca insensitive | EF-hand domain | EF-hand domain pair | SH3 domain | SH3-like domain superfamily | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A3FG33
|
2480 | |||||||||
|
UniProtKB:A0A8M9P3B0
|
2474 | |||||||||
|
UniProtKB:A0A8M9PCM4
|
2496 | |||||||||
|
UniProtKB:A0A8M9PQF8
|
2474 | |||||||||
|
UniProtKB:A0A8M9PCN0
|
2485 | |||||||||
|
UniProtKB:A0A8M9P3A5
|
2490 | |||||||||
|
UniProtKB:A0A8M9PQF2
|
2501 | |||||||||
|
UniProtKB:A0A8M9PI94
|
2481 | |||||||||
|
UniProtKB:A0A8M9PTV0
|
2475 | |||||||||
|
UniProtKB:A0A8M9PI97
|
2455 | |||||||||
|
UniProtKB:A0A8M9PCN5
|
2460 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sptan1-201
(1)
|
Ensembl | 7,875 nt | ||
| mRNA |
sptan1-202
(1)
|
Ensembl | 1,766 nt | ||
| mRNA |
sptan1-204
(1)
|
Ensembl | 538 nt | ||
| ncRNA |
spna2-003
(1)
|
Ensembl | 729 nt | ||
| ncRNA |
spna2-005
(1)
|
Ensembl | 861 nt |
Interactions and Pathways
No data available
Plasmids
No data available