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MGP001801

UniProt Annotations

Entry Information

Gene Name	lamin B receptor
Protein Entry	LBR_HUMAN
UniProt ID	Q14739
Species	Human

Comments

Comment type	Description
Disease	Greenberg dysplasia (GRBGD) [MIM:215140]: A rare autosomal recessive chondrodystrophy characterized by early in utero lethality. Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers. {ECO:0000269\|PubMed:12618959}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Pelger-Huet anomaly (PHA) [MIM:169400]: An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. Some individuals occasionally have skeletal anomalies, developmental delay, and seizures. {ECO:0000269\|PubMed:14617022}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Reynolds syndrome (REYNS) [MIM:613471]: A syndrome specifically associating limited cutaneous systemic sclerosis and primary biliary 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. {ECO:0000269\|PubMed:20522425}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Domain	The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3. {ECO:0000250}.
Function	Anchors the lamina and the heterochromatin to the inner nuclear membrane. {ECO:0000269\|PubMed:10828963}.
Interaction	Q13185:CBX3; NbExp=4; IntAct=EBI-1055147, EBI-78176; P45973:CBX5; NbExp=4; IntAct=EBI-1055147, EBI-78219;
Ptm	Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from the lamina and the chromatin. It is phosphorylated by different protein kinases in interphase when the membrane is associated with these structures. Phosphorylation of LBR and HP1 proteins may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle. Phosphorylated by SRPK1. In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing reassociation with chromatin. {ECO:0000269\|PubMed:10049757, ECO:0000269\|PubMed:18669648, ECO:0000269\|PubMed:20068231, ECO:0000269\|PubMed:21406692, ECO:0000269\|PubMed:21795390}.
Sequence Caution	Sequence=BAD92751.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the ERG4/ERG24 family. {ECO:0000305}.
Similarity	Contains 1 Tudor domain. {ECO:0000305}.
Subcellular Location	Nucleus inner membrane; Multi-pass membrane protein.
Subunit	Interacts directly with CBX5. Can interact with chromodomain proteins. Interacts directly with DNA. Interaction with DNA is sequence independent with higher affinity for supercoiled and relaxed circular DNA than linear DNA. {ECO:0000269\|PubMed:15882967, ECO:0000269\|PubMed:8157662, ECO:0000269\|PubMed:9169472}.