Gene
kifbp
- ID
- ZDB-GENE-070117-1989
- Name
- kinesin family binding protein
- Symbol
- kifbp Nomenclature History
- Previous Names
-
- kbp
- kif1bp
- kifbp
- fc59b03
- kiaa1279 (1)
- kif1-binding protein
- unm st23
- wu:fc59b03
- zgc:112085
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Involved in several processes, including central nervous system neuron axonogenesis; enteric nervous system development; and neuron projection maintenance. Predicted to localize to mitochondrion. Used to study Goldberg-Shprintzen syndrome. Human ortholog(s) of this gene implicated in Goldberg-Shprintzen syndrome. Is expressed in gut and nervous system. Orthologous to human KIFBP (kinesin family binding protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Goldberg-Shprintzen syndrome | Alliance | Goldberg-Shprintzen megacolon syndrome | 609460 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Goldberg-Shprintzen syndrome | kifbpst23/st23 | standard conditions | Lyons et al., 2008 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | KIF-1 binding protein | Tetratricopeptide-like helical domain superfamily |
|---|---|---|---|
|
UniProtKB:A8WE67
|
631 | ||
|
UniProtKB:B8A5I1
|
631 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kif1bp-201
(1)
|
Ensembl | 2,231 nt |
Interactions and Pathways
No data available
Plasmids
No data available