KALRN


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. [provided by RefSeq, Apr 2016].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:604605
PHARMGKB IDPA29189
Map Location3q21.1-q21.2

GO terms in KALRN


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IEA GO:0004674 protein serine/threonine kinase activity
MF EXP GO:0005085 guanyl-nucleotide exchange factor activity
MF TAS GO:0005085 guanyl-nucleotide exchange factor activity
MF TAS GO:0005089 Rho guanyl-nucleotide exchange factor activity
MF TAS GO:0005096 GTPase activator activity
MF IEA GO:0005524 ATP binding
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Gene expression in normal tissue: KALRN

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in KALRN


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Database
Pathway ID
Pathway Des.
pid arf6downstreampathway Arf6 downstream pathway
pid ephbfwdpathway EPHB forward signaling
pid rac1_reg_pathway Regulation of RAC1 activity
reactome R-HSA-1266738 Developmental Biology
reactome R-HSA-162582 Signal Transduction
reactome R-HSA-193648 NRAGE signals death through JNK
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD260 FQI-2 3
iGMDRD247 Blebbistatin 2
iGMDRD801 2,4-dideoxy-DC-45-A2 4
iGMDRD224 Necrostatin-1 4
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in KALRN

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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