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 enable actin filament binding activity. Acts upstream of or within clustering of voltage-gated sodium channels and myelination in peripheral nervous system. Located in node of Ranvier and paranode region of axon. Is expressed in several structures, including bone tissue; cranial ganglion; eye; immature eye; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. 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 | Additional Resources | 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 | InterPro | 2480 | |||||||||
| UniProtKB:A0A8M9P3B0 | InterPro | 2474 | |||||||||
| UniProtKB:A0A8M9PCM4 | InterPro | 2496 | |||||||||
| UniProtKB:A0A8M9PQF8 | InterPro | 2474 | |||||||||
| UniProtKB:A0A8M9PCN0 | InterPro | 2485 | |||||||||
| UniProtKB:A0A8M9P3A5 | InterPro | 2490 | |||||||||
| UniProtKB:A0A8M9PQF2 | InterPro | 2501 | |||||||||
| UniProtKB:A0A8M9PI94 | InterPro | 2481 | |||||||||
| UniProtKB:A0A8M9PTV0 | InterPro | 2475 | |||||||||
| UniProtKB:A0A8M9PI97 | InterPro | 2455 | |||||||||
| UniProtKB:A0A8M9PCN5 | InterPro | 2460 | |||||||||
| UniProtKB:A0AB32T7V1 | InterPro | 2480 |
- Genome Browsers
| 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