|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8997
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Kalirin RhoGEF kinase |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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KALRN |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
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ARHGEF24, CHD5, CHDS5, DUET, DUO, HAPIP, KALNC2, TRAD |
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Chromosome
Chromosome number
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3 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q21.1-q21.2 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
Huntington`s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated p |
| UniProt ID |
O60229
|
| Protein name |
Kalirin (EC 2.7.11.1) (Huntingtin-associated protein-interacting protein) (Protein Duo) (Serine/threonine-protein kinase with Dbl- and pleckstrin homology domain) |
| Protein function |
Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamel |
| PDB |
5QQD
,
5QQE
,
5QQF
,
5QQG
,
5QQH
,
5QQI
,
5QQJ
,
5QQK
,
5QQL
,
5QQM
,
5QQN
,
5QU9
,
8C7D
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF13716
|
CRAL_TRIO_2 |
54 → 230 |
Divergent CRAL/TRIO domain |
Domain |
|
PF00435
|
Spectrin |
310 → 416 |
Spectrin repeat |
Domain |
|
PF00435
|
Spectrin |
536 → 642 |
Spectrin repeat |
Domain |
|
PF00435
|
Spectrin |
890 → 1003 |
Spectrin repeat |
Domain |
|
PF00435
|
Spectrin |
1130 → 1236 |
Spectrin repeat |
Domain |
|
PF00621
|
RhoGEF |
1285 → 1457 |
RhoGEF domain |
Domain |
|
PF00169
|
PH |
1471 → 1580 |
PH domain |
Domain |
|
PF16609
|
SH3-RhoG_link |
1705 → 1911 |
|
Disordered |
|
PF00621
|
RhoGEF |
1933 → 2102 |
RhoGEF domain |
Domain |
|
PF07679
|
I-set |
2471 → 2565 |
Immunoglobulin I-set domain |
Domain |
|
PF00041
|
fn3 |
2570 → 2654 |
Fibronectin type III domain |
Domain |
|
PF00069
|
Pkinase |
2684 → 2938 |
Protein kinase domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Isoform 2 is brain specific. Highly expressed in cerebral cortex, putamen, amygdala, hippocampus and caudate nucleus. Weakly expressed in brain stem and cerebellum. Isoform 4 is expressed in skeletal muscle. {ECO:0000269|PubMed:1002307 |
| Sequence |
|
| Sequence length |
2986 |
| Interactions |
View interactions
|