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 |
|---|---|---|---|---|---|
| bone gamma-carboxyglutamate protein | MIM:112260 | Ensembl:ENSG00000242252 | HGNC:HGNC:1043 | PA25345 | 1q22 |
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 |
| BP | IEA | GO:0002076 | osteoblast development |
| BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | NAS | GO:0007155 | cell adhesion |
| BP | IEA | GO:0007569 | cell aging |
| BP | IEA | GO:0009612 | response to mechanical stimulus |
| BP | IEA | GO:0009629 | response to gravity |
| BP | IEA | GO:0010043 | response to zinc ion |
| BP | IEA | GO:0014823 | response to activity |
| BP | NAS | GO:0030282 | bone mineralization |
| BP | IEA | GO:0030500 | regulation of bone mineralization |
| BP | IEA | GO:0032571 | response to vitamin K |
| BP | IEP | GO:0033280 | response to vitamin D |
| BP | IEA | GO:0033574 | response to testosterone |
| BP | IEA | GO:0033594 | response to hydroxyisoflavone |
| BP | IEA | GO:0042476 | odontogenesis |
| BP | IEA | GO:0043627 | response to estrogen |
| BP | NAS | GO:0045124 | regulation of bone resorption |
| BP | IEA | GO:0045471 | response to ethanol |
| BP | NAS | GO:0045670 | regulation of osteoclast differentiation |
| BP | IEA | GO:0051384 | response to glucocorticoid |
| BP | IEA | GO:0060348 | bone development |
| BP | IEA | GO:0071305 | cellular response to vitamin D |
| BP | IEA | GO:0071363 | cellular response to growth factor stimulus |
| CC | IEA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | IEA | GO:0005791 | rough endoplasmic reticulum |
| CC | TAS | GO:0005796 | Golgi lumen |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0031982 | vesicle |
| CC | IEA | GO:0043204 | perikaryon |
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 |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| wikipathways | WP2332 | Interleukin-11 Signaling Pathway |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP322 | Osteoblast Signaling |
| pharmgkb | PA145011114 | Warfarin Pathway, Pharmacodynamics |
| pid | fgf_pathway | FGF signaling pathway |
| pid | fra_pathway | Validated transcriptional targets of AP1 family members Fra1 and Fra2 |
| pid | hes_heypathway | Notch-mediated HES/HEY network |
| pid | rb_1pathway | Regulation of retinoblastoma protein |
| pid | reg_gr_pathway | Glucocorticoid receptor regulatory network |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BGLAP
CLASSFICATION
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