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Protein Page:
LBR (human)

Overview
LBR Anchors the lamina and the heterochromatin to the inner nuclear membrane. Defects in LBR are a cause of Pelger-Huet anomaly (PHA). PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities. Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM); also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short- limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations. Defects in LBR may be a cause of Reynolds syndrome (REYNS). It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. Belongs to the ERG4/ERG24 family. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1q42.1
Cellular Component: integral to endoplasmic reticulum membrane; integral to membrane; integral to nuclear inner membrane; membrane; nuclear envelope; nuclear membrane
Molecular Function: delta14-sterol reductase activity; lamin binding; oxidoreductase activity, acting on the CH-CH group of donors; protein binding
Biological Process: cholesterol biosynthetic process; sterol biosynthetic process
Disease: Greenberg Dysplasia; Pelger-huet Anomaly; Reynolds Syndrome
Reference #:  Q14739 (UniProtKB)
Alt. Names/Synonyms: DHCR14B; FLJ43126; Integral nuclear envelope inner membrane protein; lamin B receptor; Lamin-B receptor; LBR; LMN2R; MGC9041; PHA
Gene Symbols: LBR
Molecular weight: 70,703 Da
Basal Isoelectric point: 9.41  Predict pI for various phosphorylation states
Select Structure to View Below

LBR

Protein Structure Not Found.
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