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 Ensembl IDEnsembl:ENSG00000160145 HGNC IDHGNC:HGNC:4814 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 |
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 |
Gene-Drug: Aster Plot
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 | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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