Gene
knl1
- ID
- ZDB-GENE-030131-5437
- Name
- kinetochore scaffold 1
- Symbol
- knl1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to be involved in attachment of spindle microtubules to kinetochore and protein localization to kinetochore. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly and primary autosomal recessive microcephaly 4. Orthologous to human KNL1 (kinetochore scaffold 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7145448 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Duerinckx et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary autosomal recessive microcephaly 4 | Alliance | Microcephaly 4, primary, autosomal recessive | 604321 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| primary microcephaly | knl1ulb10/ulb10 | standard conditions | Duerinckx et al., 2019 |
| primary microcephaly | knl1ulb9/ulb9 | standard conditions | Duerinckx et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Kinetochore scaffold 1 | Knl1, C-terminal RWD domain | KNL1 MELT repeat |
|---|---|---|---|---|
|
UniProtKB:A0A8M9Q0A9
|
1676 | |||
|
UniProtKB:A0A8M3AY08
|
1824 |
Interactions and Pathways
No data available
Plasmids
No data available