MGP Database

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MGP003765

UniProt Annotations

Entry Information
Gene Namekalirin, RhoGEF kinase
Protein EntryKALRN_HUMAN
UniProt IDO60229
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing, Alternative initiation; Named isoforms=6; Name=1; IsoId=O60229-1; Sequence=Displayed; Note=Produced by alternative splicing.; Name=2; IsoId=O60229-2; Sequence=VSP_028910, VSP_028911; Note=Produced by alternative splicing. No experimental confirmation available.; Name=3; IsoId=O60229-3; Sequence=VSP_028905, VSP_028906, VSP_028907, VSP_028908; Note=Produced by alternative initiation at Met-624 of isoform 1. Inferred by similarity.; Name=4; Synonyms=DUET, TRAD; IsoId=O60229-4; Sequence=VSP_028903, VSP_028912, VSP_047353; Note=Produced by alternative splicing.; Name=5; IsoId=O60229-5; Sequence=VSP_028904, VSP_028909, VSP_028913, VSP_028914, VSP_028915; Note=Produced by alternative splicing.; Name=6; IsoId=O60229-6; Sequence=VSP_028903, VSP_028912, VSP_028913; Note=Produced by alternative splicing. No experimental confirmation available.;
Catalytic ActivityATP + a protein = ADP + a phosphoprotein.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420;
DiseaseCoronary heart disease 5 (CHDS5) [MIM:608901]: A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. {ECO:0000269|PubMed:17357071}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DomainThe two GEF domains catalyze nucleotide exchange for RAC1 and RhoA which are bound by DH1 and DH2 respectively. The two GEF domains appear to play differing roles in neuronal development and axonal outgrowth. SH3 1 binds to the first GEF domain inhibiting GEF activity only when in the presence of a PXXP peptide, suggesting that the SH3 domain/peptide interaction mediates binding to GEF1. CRK1 SH3 domain binds to and inhibits GEF1 activity (By similarity). {ECO:0000250}.
FunctionPromotes 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 lamellipodia independent of its GEF activity. {ECO:0000269|PubMed:10023074}.
InteractionQ9Y6H5-1:SNCAIP; NbExp=3; IntAct=EBI-9075360, EBI-9075374;
MiscellaneousCalled DUO because the encoded protein is closely related to but shorter than TRIO.
PtmAutophosphorylated. {ECO:0000269|PubMed:18088087, ECO:0000269|PubMed:18669648}.
Sequence CautionSequence=AAH58015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
SimilarityBelongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. {ECO:0000305}.
SimilarityContains 1 CRAL-TRIO domain. {ECO:0000255|PROSITE- ProRule:PRU00056}.
SimilarityContains 1 fibronectin type-III domain. {ECO:0000255|PROSITE-ProRule:PRU00316}.
SimilarityContains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO:0000305}.
SimilarityContains 1 protein kinase domain. {ECO:0000255|PROSITE-ProRule:PRU00159}.
SimilarityContains 2 DH (DBL-homology) domains. {ECO:0000255|PROSITE-ProRule:PRU00062}.
SimilarityContains 2 PH domains. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 2 SH3 domains. {ECO:0000255|PROSITE- ProRule:PRU00192}.
SimilarityContains 5 spectrin repeats. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:10023074}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10023074}. Note=Associated with the cytoskeleton.
SubunitInteracts with the C-terminal of peptidylglycine alpha- amidating monooxygenase (PAM) and with the huntingtin-associated protein 1 (HAP1) (By similarity). Interacts with FASLG. {ECO:0000250, ECO:0000269|PubMed:19807924}.
Tissue SpecificityIsoform 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:10023074}.
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