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LBR lamin B receptor [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002296 Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
NM_194442 Homo sapiens lamin B receptor (LBR), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15
XM_005273125 PREDICTED: Homo sapiens lamin B receptor (LBR), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol LBR
Entrez Gene ID 3930
Full Name lamin B receptor
Synonyms DHCR14B, LMN2R, PHA, TDRD18
General protein information
Preferred Names
lamin-B receptor
Names
lamin-B receptor
tudor domain containing 18
integral nuclear envelope inner membrane protein
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, Jul 2008].
Disorder

MIM: 600024

Pelger-Huet anomaly, 169400 (3); HEM skeletal dysplasia, 215140 (3);

mRNA Protein Product Sequence Price Select
NM_002296, 328447199 NP_002287, 37595750 lamin-B receptor ORF Sequence $490.00
NM_194442, 328447198 NP_919424, 37595752 lamin-B receptor ORF Sequence $490.00
XM_005273125, 530366189 XP_005273182, 530366190 lamin-B receptor isoform X1 ORF Sequence $700.00
WikiPathways
WP2363Gastric cancer network 2
BIOCYC
META_PWY66-341cholesterol biosynthesis I
META_PWY66-5superpathway of cholesterol biosynthesis
META_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
META_PWY66-4cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY66-5superpathway of cholesterol biosynthesis
HUMAN_PWY66-341cholesterol biosynthesis I
HUMAN_PWY66-3cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
HUMAN_PWY66-4cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY-6074zymosterol biosynthesis
Reactome
REACT_9405Cholesterol biosynthesis
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)LBRNP_919424.1
Pan troglodytes (chimpanzee)LBRXP_001137563.1
Macaca mulatta (Rhesus monkey)LBRXP_001094360.1
Canis lupus familiaris (dog)LBRXP_547512.2
Bos taurus (cattle)LBRNP_001093799.1
Mus musculus (house mouse)LbrNP_598576.2
Rattus norvegicus (Norway rat)LbrNP_604448.1
Gallus gallus (chicken)LBRNP_990673.1
Danio rerio (zebrafish)lbrNP_001002720.1
Drosophila melanogaster (fruit fly)LBRNP_726115.1
Process
IDNameEvidence
GO:0006695cholesterol biosynthetic processTAS
GO:0044281small molecule metabolic processTAS
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005635nuclear envelopeTAS
GO:0005639integral component of nuclear inner membraneTAS
GO:0005739mitochondrionIDA
GO:0016020membraneIDA
GO:0016021integral component of membraneIDA
GO:0031965nuclear membraneIDA
Function
IDNameEvidence
GO:0003677DNA bindingIEA
GO:0005515protein bindingIPI
GO:0005521lamin bindingTAS
GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptorIEA
GO:0044822poly(A) RNA bindingIDA
GO:0070087chromo shadow domain bindingIPI
GeneCards LBR
PDB 2DIG
UniProt Q14739
Vega OTTHUMG00000037520
MIM 600024
Ensembl ENSG00000143815
HGNC 6518
HPRD 02488

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the LBR gene?

The LBR gene provides instructions for making a protein called the lamin B receptor. Different regions (domains) of this protein give it two distinct functions.

One region of the protein, called the sterol reductase domain, gives the protein sterol reductase function (specifically Δ14-sterol reductase function). This function of the lamin B receptor plays an important role in the production (synthesis) of cholesterol. Cholesterol is a lipid (fat) that is obtained from foods that come from animals: eggs, meat, fish, and dairy products. The body also makes (synthesizes) its own cholesterol. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows the protein to perform one of several chemical reactions that convert a molecule called lanosterol to cholesterol.

The body needs cholesterol to develop and function normally. Before birth, cholesterol interacts with signaling proteins that control early development of the brain, limbs, genitals, and other structures. It is also an important component of cell membranes and myelin, the fatty covering that insulates nerve cells. Additionally, cholesterol is used to make certain hormones and is important for the production of acids used in digestion (bile acids).

Another region of the lamin B receptor, called the DNA-binding domain, attaches (binds) to chromatin, the complex of DNA and proteins that packages DNA into chromosomes. The lamin B receptor can be found in the membrane that surrounds the nucleus (the nuclear envelope). The protein's interaction with chromatin attaches it to the nuclear envelope and helps maintain the chromatin's structure. Proper interaction of chromatin with the nuclear envelope may play a role in several important cellular functions such as making new copies of DNA (replication), controlling the activity of genes, and regulating programmed cell death (apoptosis). The DNA-binding domain of the protein also plays a role in the formation of the nucleus within cells.

Interactant

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