Gene

knl1

ID
ZDB-GENE-030131-5437
Name
kinetochore scaffold 1
Symbol
knl1 Nomenclature History
Previous Names
  • casc5 (1)
  • fd18f09
  • si:dkey-9k8.1 (1)
  • wu:fd18f09
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. Predicted to act upstream of or within cell division. Predicted to be active in nucleus. Used to study primary microcephaly. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 4; and sarcoma. Orthologous to human KNL1 (kinetochore scaffold 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Duerinckx et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With knl1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
primary autosomal recessive microcephaly 4 Alliance Microcephaly 4, primary, autosomal recessive 604321
Associated With knl1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR040850 Knl1, C-terminal RWD domain
Family IPR037388 Kinetochore scaffold 1
Repeat IPR043651 KNL1 MELT repeat
Domain Details Per Protein
Protein Length Kinetochore scaffold 1 Knl1, C-terminal RWD domain KNL1 MELT repeat
UniProtKB:Q56A53 508
UniProtKB:F1R5N3 1794
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations