Gene
kank1b
- ID
- ZDB-GENE-060526-260
- Name
- KN motif and ankyrin repeat domains 1b
- Symbol
- kank1b Nomenclature History
- Previous Names
-
- si:dkey-226m8.9 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable oxidoreductase activity. Predicted to be involved in negative regulation of actin filament polymerization. Predicted to be active in cytoplasm and cytoskeleton. Is expressed in central nervous system; eye; hindbrain; and midbrain. Human ortholog(s) of this gene implicated in spastic quadriplegia. Orthologous to human KANK1 (KN motif and ankyrin repeat domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Hensley et al., 2016
- 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 |
---|---|---|---|
spastic quadriplegic cerebral palsy 2 | Alliance | Cerebral palsy, spastic quadriplegic, 2 | 612900 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR021939 | Kank N-terminal motif |
Family | IPR047184 | KN motif and ankyrin repeat domain-containing protein 1-4 |
Homologous_superfamily | IPR011254 | Prismane-like superfamily |
Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
Repeat | IPR002110 | Ankyrin repeat |
Domain Details Per Protein
Protein | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Kank N-terminal motif | KN motif and ankyrin repeat domain-containing protein 1-4 | Prismane-like superfamily |
---|---|---|---|---|---|---|
UniProtKB:A5WUM1
|
1054 | |||||
UniProtKB:A0A8M2BJ97
|
1170 | |||||
UniProtKB:A0A8M9PXR2
|
1009 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
kank1b-201
(1)
|
Ensembl | 3,907 nt | ||
mRNA |
kank1b-203
(1)
|
Ensembl | 2,438 nt | ||
mRNA |
kank1b-204
(1)
|
Ensembl | 411 nt | ||
ncRNA |
kank1b-003
(1)
|
Ensembl | 535 nt |
Interactions and Pathways
No data available
Plasmids