LHFPL1
Summary: This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300566 Ensembl IDEnsembl:ENSG00000182508 HGNC IDHGNC:HGNC:6587 PHARMGKB IDPA30359 Map LocationXq23 | |||||
GO terms in LHFPL1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0016021 | integral component of membrane |
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Gene expression in normal tissue: LHFPL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LHFPL1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LHFPL1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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