LBR lamin B receptor [Homo sapiens (human)]
| Gene Symbol | LBR |
| Entrez Gene ID | 3930 |
| Full Name | lamin B receptor |
| Synonyms | DHCR14B, FLJ43126, LMN2R, MGC9041, PHA |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
1 1q42.1 |
| Summary | The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq]. |
| Disorder | MIM: 600024 Pelger-Huet anomaly, 169400 (3); HEM skeletal dysplasia, 215140 (3); |
| mRNA | NM_002296, 328447199 |
| Protein | NP_002287, 37595750 |
| Product | lamin-B receptor |
| RefSeq Status | REVIEWED |
| mRNA | NM_194442, 328447198 |
| Protein | NP_919424, 37595752 |
| Product | lamin-B receptor |
| RefSeq Status | REVIEWED |
| META_PWY66-3 | cholesterol biosynthesis II (via 24,25-dihydrolanosterol) |
| META_PWY66-4 | cholesterol biosynthesis III (via desmosterol) |
| META_PWY-6074 | zymosterol biosynthesis |
| META_PWY66-341 | cholesterol biosynthesis I |
| META_PWY66-5 | superpathway of cholesterol biosynthesis |
Reactome
| REACT_9405 | Cholesterol biosynthesis |
| REACT_22258 | Metabolism of lipids and lipoproteins |
| Homo sapiens (human) | LBR | NP_002287.2 |
| Pan troglodytes (chimpanzee) | LBR | XP_514234.2 |
| Canis lupus familiaris (dog) | LBR | XP_547512.2 |
| Bos taurus (cattle) | LBR | NP_001093799.1 |
| Mus musculus (house mouse) | Lbr | NP_598576.1 |
| Rattus norvegicus (Norway rat) | Lbr | NP_604448.1 |
| Gallus gallus (chicken) | LBR | NP_990673.1 |
| Danio rerio (zebrafish) | lbr | NP_001002720.1 |
| ID | Name | Evidence |
| GO:0006695 | cholesterol biosynthetic process | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005635 | nuclear envelope | EXP |
| GO:0005637 | nuclear inner membrane | IEA |
| GO:0005639 | integral to nuclear inner membrane | TAS |
| GO:0005643 | nuclear pore | IEA |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IDA |
Function
| ID | Name | Evidence |
| GO:0003677 | DNA binding | IEA |
| GO:0004872 | receptor activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0005521 | lamin binding | TAS |
| GO:0050613 | delta14-sterol reductase activity | EXP |
| GO:0070087 | chromo shadow domain binding | IPI |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |