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 have oxidoreductase activity. Predicted to be involved in negative regulation of actin filament polymerization. Predicted to localize to cytoplasm and cytoskeleton. Human ortholog(s) of this gene implicated in spastic quadriplegia. Is expressed in central nervous system; eye; hindbrain; and midbrain. 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