BGLAP (bone gamma-carboxyglutamate protein) - Rat Genome Database

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Gene: BGLAP (bone gamma-carboxyglutamate protein) Homo sapiens
Analyze
Symbol: BGLAP
Name: bone gamma-carboxyglutamate protein
RGD ID: 619567
HGNC Page HGNC
Description: Predicted to have calcium-dependent protein binding activity; hydroxyapatite binding activity; and metal ion binding activity. Predicted to be a structural constituent of bone. Involved in osteoblast differentiation and response to vitamin D. Localizes to cytoplasm. Implicated in osteoarthritis; osteoporosis; prostate cancer; rheumatoid arthritis; and vitamin K deficiency bleeding. Biomarker of several diseases, including calcium oxalate nephrolithiasis; cystic fibrosis; diabetes insipidus; diabetes mellitus (multiple); and end stage renal disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BGP; bone gamma-carboxyglutamate (gla) protein (osteocalcin); bone Gla protein; gamma-carboxyglutamic acid-containing protein; OC; OCN; osteocalcin; PMF1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1156,242,184 - 156,243,317 (+)EnsemblGRCh38hg38GRCh38
GRCh381156,242,184 - 156,243,317 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371156,211,975 - 156,213,108 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,478,629 - 154,479,736 (+)NCBINCBI36hg18NCBI36
Build 341153,025,077 - 153,026,185NCBI
Celera1129,284,933 - 129,286,094 (+)NCBI
Cytogenetic Map1q22NCBI
HuRef1127,573,050 - 127,574,222 (+)NCBIHuRef
CHM1_11157,607,726 - 157,609,096 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (ISO)
(S)-nicotine  (EXP,ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-bisphospho-D-glyceric acid  (EXP)
2,3-bisphosphoglyceric acid  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-aminobenzamide  (EXP)
4',5,7-trihydroxy-3'-methoxyflavone  (ISO)
5-(1,4-diazepane-1-sulfonyl)isoquinoline  (ISO)
5-azacytidine  (ISO)
5-fluorouracil  (ISO)
5-formyltetrahydrofolic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
9-cis-retinoic acid  (EXP,ISO)
acrylamide  (ISO)
aldehydo-D-glucosamine  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
allopurinol  (ISO)
alloxanthine  (ISO)
aluminium atom  (ISO)
aluminium oxide  (EXP)
aluminium(0)  (ISO)
ammonium chloride  (EXP,ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (ISO)
apocynin  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (ISO)
atorvastatin calcium  (EXP)
aucubin  (EXP)
azadirachtin A  (ISO)
bafilomycin A1  (EXP)
beclomethasone  (EXP)
benzo[a]pyrene  (EXP)
berberine  (EXP)
beta-D-glucosamine  (EXP)
bexarotene  (EXP)
bisphenol A  (ISO)
Bisphenol A diglycidyl ether  (ISO)
boron atom  (EXP)
budesonide  (EXP)
Butylparaben  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
caesium atom  (ISO)
caffeine  (ISO)
calciol  (EXP,ISO)
calcitriol  (EXP,ISO)
calcium carbonate  (EXP)
calcium dichloride  (EXP)
cannabidiol  (EXP)
CHIR 99021  (ISO)
chitosan  (EXP)
chlormequat chloride  (ISO)
chloroquine  (EXP)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cycloheximide  (ISO)
daidzein  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (ISO)
disulfiram  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
elemental boron  (EXP)
enalapril  (ISO)
enzacamene  (ISO)
ethanol  (ISO)
Falecalcitriol  (EXP)
fasudil hydrochloride  (ISO)
fentin hydroxide  (ISO)
flavonoids  (ISO)
fluticasone  (EXP)
fulvestrant  (EXP,ISO)
gamma-aminobutyric acid  (ISO)
gamma-Oryzanol (TN)  (ISO)
genistein  (EXP,ISO)
glycerol 2-phosphate  (EXP,ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
Goserelin  (EXP)
hexadecanoic acid  (ISO)
hydrogen chloride  (EXP)
hydrogen peroxide  (EXP,ISO)
icariin  (ISO)
icariside II  (ISO)
ifosfamide  (EXP)
ionomycin  (ISO)
iron dextran  (ISO)
isonicotinamide  (EXP,ISO)
L-ascorbic acid  (EXP,ISO)
L-ascorbic acid 2-phosphate  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
levonorgestrel  (EXP)
lithium chloride  (EXP)
lithocholic acid  (EXP)
magnesium atom  (EXP)
melatonin  (EXP)
menadione  (EXP,ISO)
menaquinone  (EXP,ISO)
menaquinone-7  (ISO)
menatetrenone  (ISO)
methotrexate  (ISO)
methylparaben  (ISO)
montelukast  (ISO)
myricitrin  (EXP,ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
naringin  (EXP,ISO)
nebivolol  (ISO)
neoeriocitrin  (ISO)
nicotine  (EXP,ISO)
nitric acid  (ISO)
NMN zwitterion  (ISO)
norethisterone  (EXP)
notoginsenoside R1  (EXP)
ormeloxifene  (ISO)
oxaliplatin  (ISO)
pamidronate  (EXP)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
Phenylamil  (EXP)
phosphatidic acid  (EXP)
phylloquinone  (ISO)
pioglitazone  (ISO)
poly(ethylene)  (EXP)
prallethrin  (ISO)
quercetin  (EXP,ISO)
quinoxyfen  (ISO)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
sciadopitysin  (ISO)
simvastatin  (EXP,ISO)
sirolimus  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (EXP,ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
titanium atom  (ISO)
topotecan  (ISO)
tributylstannane  (EXP,ISO)
troglitazone  (ISO)
tubocurarine  (EXP)
tungsten  (ISO)
uranium atom  (ISO)
valproic acid  (EXP)
vitamin D  (EXP,ISO)
vitamin E  (ISO)
vitamin K  (ISO)
vorinostat  (EXP)
warfarin  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Achemlal L, etal., Clin Rheumatol. 2005 Sep;24(5):493-6. Epub 2005 Mar 4.
2. Arrabal-Polo MA, etal., Urology. 2012 Jan;79(1):48-54. doi: 10.1016/j.urology.2011.07.1382. Epub 2011 Sep 9.
3. Bruyere O, etal., Maturitas. 2003 Apr 25;44(4):259-65.
4. Christoforidis A, etal., J Bone Miner Metab. 2011 May;29(3):321-7. doi: 10.1007/s00774-010-0220-1. Epub 2010 Sep 16.
5. Gevers G, etal., Br J Rheumatol. 1986 Aug;25(3):260-2.
6. GOA_HUMAN data from the GO Consortium
7. Horiuchi T, etal., J Bone Miner Metab. 2004;22(3):236-40.
8. Inukai T, etal., Diabetes Res Clin Pract. 1997 Oct;38(1):53-9.
9. Kalichman L and Kobyliansky E, Rheumatol Int. 2010 Jun;30(8):1131-5. Epub 2010 Feb 16.
10. Kanazawa I, etal., Calcif Tissue Int. 2009 Sep;85(3):228-34. doi: 10.1007/s00223-009-9272-4. Epub 2009 Jul 30.
11. Kang KY, etal., Rheumatol Int. 2012 Mar 25.
12. Kim SY, etal., J Cutan Pathol. 2008 Sep;35(9):826-31. doi: 10.1111/j.1600-0560.2007.00904.x. Epub 2008 Apr 18.
13. Li YL and Wang H, Zhongguo Dang Dai Er Ke Za Zhi. 2012 Sep;14(9):653-6.
14. Maicas N, etal., Antioxid Redox Signal. 2011 Aug 15;15(4):889-901. Epub 2011 May 25.
15. Masse PG, etal., J Am Coll Nutr. 2010 Aug;29(4):419-29.
16. Miazgowski T and Czekalski S, Osteoporos Int. 1998;8(5):399-403.
17. Naito K, etal., Int J Mol Med. 2012 May;29(5):756-60. doi: 10.3892/ijmm.2012.897. Epub 2012 Jan 26.
18. Nakajima S, etal., Nutrition. 2011 Oct;27(10):1023-8. Epub 2011 Apr 9.
19. Nickolas TL, etal., J Am Soc Nephrol. 2011 Aug;22(8):1560-72. doi: 10.1681/ASN.2010121275. Epub 2011 Jul 22.
20. Nicolaidou P, etal., Eur J Pediatr. 2006 Aug;165(8):540-5. Epub 2006 Apr 19.
21. Okura T, etal., Kidney Blood Press Res. 2010;33(1):66-71. Epub 2010 Mar 2.
22. Oostlander AE, etal., J Cell Biochem. 2012 Jul;113(7):2424-2431. doi: 10.1002/jcb.24119.
23. Oste L, etal., Ren Fail. 2007;29(1):1-12.
24. Owen C, etal., J Cell Biochem. 2012 Jul;113(7):2432-41. doi: 10.1002/jcb.24115.
25. Pennisi P, etal., J Endocrinol Invest. 2009 Jun;32(6):546-51. Epub 2009 May 5.
26. Petramala L, etal., Arch Dermatol Res. 2012 May;304(4):325-31. Epub 2011 Nov 27.
27. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
28. Pivonello R, etal., J Clin Endocrinol Metab. 1998 Jul;83(7):2275-80.
29. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
30. RGD automated import pipeline for gene-chemical interactions
31. Salekzamani S, etal., Diabetes Metab Syndr Obes. 2011;4:205-12. Epub 2011 Jun 10.
32. Sato Y, etal., Mov Disord. 2005 Dec;20(12):1598-603.
33. Silva IV, etal., J Bone Miner Res. 2003 Apr;18(4):615-23.
34. Soontrapa S, etal., J Med Assoc Thai. 2005 Oct;88 Suppl 5:S29-32.
35. Takeuchi H, etal., Endocr J. 1993 Jun;40(3):351-62.
36. Thomas S, etal., Bone Miner. 1990 Jan;8(1):1-6.
37. Tural S, etal., Gene. 2013 Feb 15;515(1):167-72. doi: 10.1016/j.gene.2012.10.041. Epub 2012 Nov 5.
38. Wang CJ, etal., Arch Orthop Trauma Surg. 2011 Aug;131(8):1153-8. Epub 2011 Mar 9.
39. Weiler H, etal., Pediatr Nephrol. 2002 Oct;17(10):795-9. Epub 2002 Aug 10.
40. Wientroub S, etal., Calcif Tissue Int. 1987 Mar;40(3):166-72.
41. Wu HC, etal., Eur Urol. 2003 Feb;43(2):197-200.
42. Zeng GF, etal., J Ethnopharmacol. 2011 Jun 14;136(1):224-9. Epub 2011 Apr 28.
Additional References at PubMed
PMID:2336375   PMID:2394711   PMID:2785029   PMID:3019668   PMID:6967872   PMID:7768973   PMID:9076588   PMID:10393081   PMID:10486212   PMID:10865224   PMID:11199188   PMID:11396736  
PMID:11574953   PMID:11856645   PMID:11918225   PMID:11979972   PMID:12112004   PMID:12145306   PMID:12202187   PMID:12270142   PMID:12393937   PMID:12467198   PMID:12477932   PMID:12674332  
PMID:12843190   PMID:12879219   PMID:15108070   PMID:15502821   PMID:15562030   PMID:15753298   PMID:15949438   PMID:16263577   PMID:16387359   PMID:16412323   PMID:16735944   PMID:17000892  
PMID:17023519   PMID:17242729   PMID:17252541   PMID:17254772   PMID:17627084   PMID:17889845   PMID:18160010   PMID:18163903   PMID:18171674   PMID:18285546   PMID:18321663   PMID:18496130  
PMID:18551993   PMID:18657532   PMID:19031822   PMID:19063687   PMID:19088165   PMID:19136823   PMID:19453261   PMID:19595020   PMID:19732762   PMID:19751416   PMID:19751417   PMID:19767102  
PMID:19856264   PMID:19877133   PMID:20139978   PMID:20200947   PMID:20221651   PMID:20305683   PMID:20355242   PMID:20395593   PMID:20410230   PMID:20433876   PMID:20501596   PMID:20562864  
PMID:20574675   PMID:20577791   PMID:20587710   PMID:20592451   PMID:20625700   PMID:20694489   PMID:20831864   PMID:21153019   PMID:21169728   PMID:21178793   PMID:21292339   PMID:21301010  
PMID:21333348   PMID:21353261   PMID:21425331   PMID:21427224   PMID:21487672   PMID:21521304   PMID:21521333   PMID:21558934   PMID:21590731   PMID:21713451   PMID:21873635   PMID:21935388  
PMID:21944272   PMID:21964930   PMID:21968268   PMID:22034088   PMID:22068385   PMID:22068892   PMID:22102412   PMID:22136751   PMID:22219025   PMID:22517558   PMID:22577088   PMID:22615158  
PMID:22652825   PMID:22679141   PMID:22735266   PMID:22752126   PMID:22773701   PMID:22842327   PMID:22978420   PMID:23001602   PMID:23135318   PMID:23162093   PMID:23206207   PMID:23261860  
PMID:23342952   PMID:23386651   PMID:23485732   PMID:23512417   PMID:23553865   PMID:23616149   PMID:23696116   PMID:23788330   PMID:24037881   PMID:24078129   PMID:24113735   PMID:24167545  
PMID:24219294   PMID:24339141   PMID:24405382   PMID:24455828   PMID:24465160   PMID:24503413   PMID:24529156   PMID:24583540   PMID:24606073   PMID:24785155   PMID:24801588   PMID:24804200  
PMID:24842726   PMID:24852846   PMID:24859912   PMID:24893146   PMID:24896339   PMID:25050899   PMID:25068814   PMID:25093461   PMID:25134387   PMID:25163392   PMID:25174991   PMID:25195811  
PMID:25224152   PMID:25279794   PMID:25325424   PMID:25327813   PMID:25365314   PMID:25376262   PMID:25416346   PMID:25480426   PMID:25538061   PMID:25577163   PMID:25587715   PMID:25644945  
PMID:25675353   PMID:25716667   PMID:25721846   PMID:25738584   PMID:25809656   PMID:25816734   PMID:25855755   PMID:25868823   PMID:25871789   PMID:25932680   PMID:25955226   PMID:25963022  
PMID:26077201   PMID:26078267   PMID:26089135   PMID:26166639   PMID:26194493   PMID:26308289   PMID:26372899   PMID:26381729   PMID:26406918   PMID:26567728   PMID:26576474   PMID:26636404  
PMID:26708046   PMID:26743527   PMID:26747614   PMID:26772621   PMID:26863345   PMID:26922969   PMID:26938749   PMID:27025722   PMID:27061949   PMID:27251081   PMID:27515675   PMID:27604070  
PMID:27667744   PMID:27673554   PMID:27889949   PMID:28000970   PMID:28002816   PMID:28093839   PMID:28106724   PMID:28242268   PMID:28429221   PMID:28443718   PMID:28521505   PMID:28732499  
PMID:28766135   PMID:28822067   PMID:28841723   PMID:28847266   PMID:28921598   PMID:28922389   PMID:28933309   PMID:28991837   PMID:29050649   PMID:29172726   PMID:29476244   PMID:29638140  
PMID:29712943   PMID:29882816   PMID:30010079   PMID:30051143   PMID:30089739   PMID:30179426   PMID:30188218   PMID:30372633   PMID:30424752   PMID:30941847   PMID:31300749   PMID:31397589  
PMID:31455100   PMID:31549398   PMID:31769248   PMID:31886290   PMID:32296183   PMID:32370705   PMID:32418417   PMID:32927845   PMID:33057142   PMID:33237935  


Genomics

Comparative Map Data
BGLAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1156,242,184 - 156,243,317 (+)EnsemblGRCh38hg38GRCh38
GRCh381156,242,184 - 156,243,317 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371156,211,975 - 156,213,108 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,478,629 - 154,479,736 (+)NCBINCBI36hg18NCBI36
Build 341153,025,077 - 153,026,185NCBI
Celera1129,284,933 - 129,286,094 (+)NCBI
Cytogenetic Map1q22NCBI
HuRef1127,573,050 - 127,574,222 (+)NCBIHuRef
CHM1_11157,607,726 - 157,609,096 (+)NCBICHM1_1
Bglap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39388,290,802 - 88,291,773 (-)NCBIGRCm39mm39
GRCm39 Ensembl388,290,808 - 88,291,771 (-)Ensembl
GRCm38388,383,495 - 88,384,466 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl388,383,501 - 88,384,464 (-)EnsemblGRCm38mm10GRCm38
MGSCv37388,187,417 - 88,188,386 (-)NCBIGRCm37mm9NCBIm37
MGSCv36388,469,422 - 88,470,391 (-)NCBImm8
Celera388,423,135 - 88,424,104 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map338.82NCBI
Bglap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22173,838,518 - 173,839,495 (-)NCBI
Rnor_6.0 Ensembl2187,741,770 - 187,742,747 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02187,741,770 - 187,748,445 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02207,144,494 - 207,150,926 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,482,313 - 180,483,290 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12180,432,418 - 180,433,396 (-)NCBI
Celera2167,783,260 - 167,784,237 (-)NCBICelera
Cytogenetic Map2q34NCBI
Bglap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555452,381,156 - 2,381,978 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555452,381,091 - 2,382,114 (+)NCBIChiLan1.0ChiLan1.0
BGLAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11135,413,871 - 135,416,432 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,413,871 - 135,416,432 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01131,583,789 - 131,586,459 (+)NCBIMhudiblu_PPA_v0panPan3
BGLAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,630,092 - 41,630,976 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl741,630,098 - 41,665,791 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,117,871 - 41,118,763 (-)NCBI
ROS_Cfam_1.0741,494,521 - 41,495,418 (-)NCBI
UMICH_Zoey_3.1741,275,834 - 41,276,717 (-)NCBI
UNSW_CanFamBas_1.0741,329,023 - 41,329,894 (-)NCBI
UU_Cfam_GSD_1.0741,613,117 - 41,614,007 (-)NCBI
LOC101978603
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,449,368 - 26,451,906 (+)NCBI
SpeTri2.0NW_0049365805,480,023 - 5,482,288 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC103223843
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,623,716 - 7,626,353 (-)NCBI
ChlSab1.1 Ensembl207,623,883 - 7,624,812 (-)Ensembl
Bglap
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248851,526,625 - 1,528,235 (+)NCBI

Position Markers
PMC351321P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,212,359 - 156,212,931UniSTSGRCh37
Build 361154,478,983 - 154,479,555RGDNCBI36
Celera1129,285,341 - 129,285,913RGD
Cytogenetic Map1qUniSTS
Cytogenetic Map1q22UniSTS
HuRef1127,573,458 - 127,574,030UniSTS
A003B36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,213,273 - 156,213,422UniSTSGRCh37
Build 361154,479,897 - 154,480,046RGDNCBI36
Celera1129,286,255 - 129,286,404RGD
Cytogenetic Map1q22UniSTS
HuRef1127,574,372 - 127,574,521UniSTS
GeneMap99-GB4 RH Map1562.48UniSTS
NCBI RH Map11405.1UniSTS
AB055289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,213,226 - 156,213,374UniSTSGRCh37
Build 361154,479,850 - 154,479,998RGDNCBI36
Celera1129,286,208 - 129,286,356RGD
HuRef1127,574,325 - 127,574,473UniSTS
STS-X04143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,212,985 - 156,213,169UniSTSGRCh37
Build 361154,479,609 - 154,479,793RGDNCBI36
Celera1129,285,967 - 129,286,151RGD
Cytogenetic Map1q22UniSTS
HuRef1127,574,084 - 127,574,268UniSTS
GeneMap99-GB4 RH Map1560.93UniSTS
RH12024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,213,292 - 156,213,460UniSTSGRCh37
Build 361154,479,916 - 154,480,084RGDNCBI36
Celera1129,286,274 - 129,286,442RGD
Cytogenetic Map1q22UniSTS
HuRef1127,574,391 - 127,574,559UniSTS
GeneMap99-GB4 RH Map1562.37UniSTS
NCBI RH Map11400.3UniSTS
RH11125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,212,062 - 156,212,394UniSTSGRCh37
Build 361154,478,686 - 154,479,018RGDNCBI36
Celera1129,285,044 - 129,285,376RGD
Cytogenetic Map1q22UniSTS
HuRef1127,573,161 - 127,573,493UniSTS
GeneMap99-GB4 RH Map1562.07UniSTS
UniSTS:485876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,211,951 - 156,213,043UniSTSGRCh37
Celera1129,284,933 - 129,286,025UniSTS
HuRef1127,573,050 - 127,574,142UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)20110513
MIR135Bhsa-miR-135b-5pMirtarbaseexternal_infoqRT-PCRNon-Functional MTI (Weak)19795981

Predicted Target Of
Summary Value
Count of predictions:650
Count of miRNA genes:445
Interacting mature miRNAs:493
Transcripts:ENST00000368272, ENST00000471413
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1
Medium 862 358 857 17 199 8 404 373 1670 22 604 671 9 209 317
Low 1517 2593 821 570 1503 418 3905 1810 2049 292 815 882 160 995 2470 3 2
Below cutoff 54 31 43 34 161 35 37 6 10 99 27 45 3 1 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000368272   ⟹   ENSP00000357255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1156,242,184 - 156,243,317 (+)Ensembl
RefSeq Acc Id: ENST00000471413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1156,242,189 - 156,243,289 (+)Ensembl
RefSeq Acc Id: NM_199173   ⟹   NP_954642
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,242,184 - 156,243,317 (+)NCBI
GRCh371156,211,951 - 156,213,123 (+)ENTREZGENE
Build 361154,478,629 - 154,479,736 (+)NCBI Archive
HuRef1127,573,050 - 127,574,222 (+)ENTREZGENE
CHM1_11157,607,726 - 157,609,096 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_954642   ⟸   NM_199173
- Peptide Label: preproprotein
- UniProtKB: P02818 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000357255   ⟸   ENST00000368272
Protein Domains
Gla

Promoters
RGD ID:6784706
Promoter ID:HG_KWN:5492
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000040867,   OTTHUMT00000046294
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,477,441 - 154,478,787 (+)MPROMDB
RGD ID:6857558
Promoter ID:EPDNEW_H1944
Type:initiation region
Name:BGLAP_2
Description:bone gamma-carboxyglutamate protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1946  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,233,626 - 156,233,686EPDNEW
RGD ID:6857562
Promoter ID:EPDNEW_H1946
Type:multiple initiation site
Name:BGLAP_1
Description:bone gamma-carboxyglutamate protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1944  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,242,189 - 156,242,249EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198406.3(PAQR6):c.*663C>T single nucleotide variant Calcium oxalate urolithiasis [RCV000128582] Chr1:156243466 [GRCh38]
Chr1:156213257 [GRCh37]
Chr1:154479881 [NCBI36]
Chr1:1q22
association
GRCh38/hg38 1q22(chr1:155834419-156434205)x3 copy number gain See cases [RCV000138885] Chr1:155834419..156434205 [GRCh38]
Chr1:155804210..156403997 [GRCh37]
Chr1:154070834..154670621 [NCBI36]
Chr1:1q22
uncertain significance
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1q22(chr1:156070888-156238593)x1 copy number loss See cases [RCV000599483] Chr1:156070888..156238593 [GRCh37]
Chr1:1q22
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1
pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 copy number gain not provided [RCV000684659] Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
LMNA-NTRK1 fusion fusion Infantile fibrosarcoma [RCV000754610] Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1
pathogenic
NM_199173.6(BGLAP):c.281G>A (p.Arg94Gln) single nucleotide variant not provided [RCV000961307] Chr1:156243140 [GRCh38]
Chr1:156212931 [GRCh37]
Chr1:1q22
benign
NC_000001.11:g.(?_156114919)_(156243162_?)del deletion Charcot-Marie-Tooth disease, type 2 [RCV000823232] Chr1:156114919..156243162 [GRCh38]
Chr1:156084710..156212953 [GRCh37]
Chr1:1q22
pathogenic
GRCh37/hg19 1q22(chr1:156037369-156463980)x3 copy number gain not provided [RCV000846254] Chr1:156037369..156463980 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1043 AgrOrtholog
COSMIC BGLAP COSMIC
Ensembl Genes ENSG00000242252 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000357255 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368272 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000242252 GTEx
HGNC ID HGNC:1043 ENTREZGENE
Human Proteome Map BGLAP Human Proteome Map
InterPro GLA-like_dom_SF UniProtKB/Swiss-Prot
  GLA_domain UniProtKB/Swiss-Prot
  Osteocalcin UniProtKB/Swiss-Prot
  Osteocalcin/MGP UniProtKB/Swiss-Prot
KEGG Report hsa:632 UniProtKB/Swiss-Prot
NCBI Gene 632 ENTREZGENE
OMIM 112260 OMIM
PANTHER PTHR14235 UniProtKB/Swiss-Prot
PharmGKB BGLAP RGD, PharmGKB
PRINTS GLABONE UniProtKB/Swiss-Prot
PROSITE GLA_1 UniProtKB/Swiss-Prot
  GLA_2 UniProtKB/Swiss-Prot
SMART GLA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57630 UniProtKB/Swiss-Prot
UniProt OSTCN_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5TCK6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 BGLAP  bone gamma-carboxyglutamate protein    bone gamma-carboxyglutamate (gla) protein  Symbol and/or name change 5135510 APPROVED