Homo sapiens Gene: KALRN
Summary
InnateDB Gene IDBG-53661.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KALRN
Gene Name kalirin, RhoGEF kinase
Synonyms ARHGEF24; CHD5; CHDS5; DUET; DUO; HAPIP; TRAD
Species Homo sapiens
Ensembl Gene ENSG00000160145
Encoded Proteins
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
kalirin, RhoGEF kinase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
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 protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:124080023-124726325
Strand Forward strand
Band q21.1
Transcripts
ENST00000360013 ENSP00000353109
ENST00000240874 ENSP00000240874
ENST00000291478 ENSP00000291478
ENST00000354186 ENSP00000346122
ENST00000393501
ENST00000393496 ENSP00000377134
ENST00000448253 ENSP00000395236
ENST00000439170 ENSP00000402950
ENST00000454902 ENSP00000400064
ENST00000477496
ENST00000488825
ENST00000460856 ENSP00000418611
ENST00000483658
ENST00000498499
ENST00000522553
ENST00000484224
ENST00000494648
ENST00000473056
ENST00000471431
ENST00000459915 ENSP00000420318
ENST00000484542
ENST00000462213 ENSP00000418790
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0046872 metal ion binding
Biological Process
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007264 small GTPase mediated signal transduction
GO:0007399 nervous system development
GO:0016192 vesicle-mediated transport
GO:0032321 positive regulation of Rho GTPase activity
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0043547 positive regulation of GTPase activity
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0097190 apoptotic signaling pathway
Cellular Component
GO:0005829 cytosol
GO:0015629 actin cytoskeleton
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
NRAGE signals death through JNK pathway
G alpha (q) signalling events pathway
Gastrin-CREB signalling pathway via PKC and MAPK pathway
G alpha (12/13) signalling events pathway
Rho GTPase cycle pathway
Developmental Biology pathway
Signalling by NGF pathway
EPHB-mediated forward signaling pathway
Signaling by Rho GTPases pathway
Signaling by GPCR pathway
Axon guidance pathway
p75 NTR receptor-mediated signalling pathway
Signal Transduction pathway
GPCR downstream signaling pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
EPH-Ephrin signaling pathway
KEGG
INOH
PID NCI
Regulation of RAC1 activity
EPHB forward signaling
Arf6 downstream pathway
Cross-References
SwissProt
TrEMBL E7EUZ8
UniProt Splice Variant
Entrez Gene 8997
UniGene Hs.8004
RefSeq NM_001024660 NM_003947 NM_007064 XM_006713810 XM_006713811 XM_006713812 XM_006713813 XM_006713814 XM_006713815 XM_006713816 XM_006713817
HUGO HGNC:4814
OMIM 604605
CCDS CCDS3027 CCDS3028
HPRD 12169
IMGT
EMBL AC022336 AC069233 AC080008 AC112129 AC117401
GenPept
RNA Seq Atlas 8997