BGLAP
Summary: This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:112260 Ensembl IDEnsembl:ENSG00000242252 HGNC IDHGNC:HGNC:1043 PHARMGKB IDPA25345 Map Location1q22 | |||||
GO terms in BGLAP
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | NAS | GO:0005198 | structural molecule activity |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | NAS | GO:0008147 | structural constituent of bone |
| MF | NAS | GO:0046848 | hydroxyapatite binding |
| BP | TAS | GO:0001501 | skeletal system development |
| BP | IEP | GO:0001649 | osteoblast differentiation |
Gene expression in normal tissue: BGLAP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BGLAP
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-159740 | Gamma-carboxylation of protein precursors |
| reactome | R-HSA-159763 | Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus |
| reactome | R-HSA-159782 | Removal of aminoterminal propeptides from gamma-carboxylated proteins |
| reactome | R-HSA-159854 | Gamma-carboxylation, transport, and amino-terminal cleavage of proteins |
| reactome | R-HSA-163841 | Gamma carboxylation, hypusine formation and arylsulfatase activation |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BGLAP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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