GDAP1L1
Summary: The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ganglioside induced differentiation associated protein 1 like 1 | Ensembl:ENSG00000124194 | HGNC:HGNC:4213 | PA28627 | 20q13.12 |
GO terms in GDAP1L1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005739 | mitochondrion |
| CC | IBA | GO:0031307 | integral component of mitochondrial outer membrane |
| BP | IBA | GO:0000266 | mitochondrial fission |
| BP | IBA | GO:0006626 | protein targeting to mitochondrion |
| BP | IBA | GO:0007005 | mitochondrion organization |
| BP | IBA | GO:0008053 | mitochondrial fusion |
Gene expression in normal tissue: GDAP1L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GDAP1L1
| Database | Pathway ID | Pathway Des. |
|---|
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
| iGMDRD309 | 17AAG | 2 |
| iGMDRD399 | Selumetinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GDAP1L1
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