Gene
sh3kbp1
- ID
- ZDB-GENE-091204-186
- Name
- SH3-domain kinase binding protein 1
- Symbol
- sh3kbp1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable kinase activity. Acts upstream of or within blood vessel lumenization. Is expressed in axial blood vessel; caudal vein plexus; intermediate mesoderm; and notochord. Human ortholog(s) of this gene implicated in immunodeficiency 61. Orthologous to human SH3KBP1 (SH3 domain containing kinase binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhao et al., 2013
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Zhao et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| immunodeficiency 61 | Alliance | ?Immunodeficiency 61 | 300310 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR035770 | SH3 domain-containing kinase-binding protein 1, first SH3 domain |
| Domain | IPR035772 | SH3 domain-containing kinase-binding protein 1, third SH3 domain |
| Family | IPR050384 | Endophilin/SH3RF |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Endophilin/SH3RF | SH3 domain | SH3 domain-containing kinase-binding protein 1, first SH3 domain | SH3 domain-containing kinase-binding protein 1, third SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9P657 | InterPro | 632 | |||||
| UniProtKB:A0A8M9PGF3 | InterPro | 622 | |||||
| UniProtKB:A0A8M2B9Q8 | InterPro | 393 | |||||
| UniProtKB:A0A8M9PX84 | InterPro | 580 | |||||
| UniProtKB:A0A8M1RMS5 | InterPro | 634 | |||||
| UniProtKB:A0AB32TPA3 | InterPro | 535 | |||||
| UniProtKB:A0AB32TQS9 | InterPro | 525 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sh3kbp1-201
(1)
|
Ensembl | 2,007 nt | ||
| mRNA |
sh3kbp1-202
(1)
|
Ensembl | 2,651 nt |
Interactions and Pathways
No data available
Plasmids
No data available