ZFIN is now using GRCz12tu for Genomic Data
Gene
sptbn1
- ID
- ZDB-GENE-031006-3
- Name
- spectrin, beta, non-erythrocytic 1
- Symbol
- sptbn1 Nomenclature History
- Previous Names
-
- fb30a06
- fb92e08
- si:zfos-1837d3.1
- wu:fb30a06
- wu:fb92e08
- zmp:0000000587
- zmp:0000000859
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable actin filament binding activity. Predicted to be involved in actin cytoskeleton organization and protein localization to plasma membrane. Predicted to be located in cytoplasm; cytoskeleton; and membrane. Predicted to be part of spectrin. Predicted to be active in several cellular components, including cell junction; cortical actin cytoskeleton; and plasma membrane. Orthologous to human SPTBN1 (spectrin beta, non-erythrocytic 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Developmental delay, impaired speech, and behavioral abnormalities | 619475 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001605 | Pleckstrin homology domain, spectrin-type |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR041681 | Pleckstrin homology domain 9 |
| Family | IPR016343 | Spectrin, beta subunit |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | PH-like domain superfamily | Pleckstrin homology domain | Pleckstrin homology domain 9 | Pleckstrin homology domain, spectrin-type | Spectrin/alpha-actinin | Spectrin, beta subunit | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3BDW6 | InterPro | 2363 | ||||||||||
| UniProtKB:A0AB13A3L2 | InterPro | 2272 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:zfos-1837d3.1-201
(1)
|
Ensembl | 608 nt | ||
| mRNA |
sptbn1-202
(1)
|
Ensembl | 6,889 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers