InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LBR

Summary

InnateDB Protein

IDBP-106943.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LBR

Protein Name

lamin B receptor

Synonyms

DHCR14B; LMN2R; PHA; TDRD18;

Species

Homo sapiens

Ensembl Protein

ENSP00000339883

InnateDB Gene

IDBG-106939 (LBR)

Protein Structure

UniProt Annotation

Function

Anchors the lamina and the heterochromatin to the inner nuclear membrane. {ECO:0000269PubMed:10828963}.

Subcellular Localization

Nucleus inner membrane; Multi-pass membrane protein.

Disease Associations

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:0000269PubMed:14617022}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:12618959}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:20522425}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	36 [view]
Protein-Protein	35 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0005521	lamin binding
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0044822	poly(A) RNA binding
GO:0070087	chromo shadow domain binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005635	nuclear envelope
GO:0005639	integral component of nuclear inner membrane
GO:0005739	mitochondrion
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031965	nuclear membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001171 Ergosterol biosynthesis ERG4/ERG24
IPR002999 Tudor domain
IPR010721 Protein of unknown function DUF1295
IPR019023 Lamin-B receptor of TUDOR domain

PFAM

PF01222
PF00567
PF06966
PF09465

PRINTS

PIRSF

SMART

SM00333

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q14739