LBR

Protein identityUniProt · HPA

UniProt accession

Q14739

Gene

LBR

Ensembl

ENSG00000143815

Chromosome

1

Canonical length

615 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nuclear membrane,Nucleoli fibrillar center

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

615 residues, UniProt reviewed canonical sequence.

>Q14739|LBR
     1  MPSRKFADGE VVRGRWPGSS LYYEVEILSH DSTSQLYTVK YKDGTELELK ENDIKPLTSF
    61  RQRKGGSTSS SPSRRRGSRS RSRSRSPGRP PKSARRSASA SHQADIKEAR REVEVKLTPL
   121  ILKPFGNSIS RYNGEPEHIE RNDAPHKNTQ EKFSLSQESS YIATQYSLRP RREEVKLKEI
   181  DSKEEKYVAK ELAVRTFEVT PIRAKDLEFG GVPGVFLIMF GLPVFLFLLL LMCKQKDPSL
   241  LNFPPPLPAL YELWETRVFG VYLLWFLIQV LFYLLPIGKV VEGTPLIDGR RLKYRLNGFY
   301  AFILTSAVIG TSLFQGVEFH YVYSHFLQFA LAATVFCVVL SVYLYMRSLK APRNDLSPAS
   361  SGNAVYDFFI GRELNPRIGT FDLKYFCELR PGLIGWVVIN LVMLLAEMKI QDRAVPSLAM
   421  ILVNSFQLLY VVDALWNEEA LLTTMDIIHD GFGFMLAFGD LVWVPFIYSF QAFYLVSHPN
   481  EVSWPMASLI IVLKLCGYVI FRGANSQKNA FRKNPSDPKL AHLKTIHTST GKNLLVSGWW
   541  GFVRHPNYLG DLIMALAWSL PCGFNHILPY FYIIYFTMLL VHREARDEYH CKKKYGVAWE
   601  KYCQRVPYRI FPYIY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LBR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

8

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

98 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LBR.

Disease | AllUniProt

Conditions LBR is implicated in, by any mechanism.

• Pelger-Huet anomaly (PHA) MIM:169400
• Greenberg dysplasia (GRBGD) MIM:215140
• Reynolds syndrome (REYNS) MIM:613471
• Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) MIM:618019

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 485 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Greenberg dysplasia
• Pelger-Huët anomaly
• RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
• Regressive spondylometaphyseal dysplasia
• LBR-related disorder

Disease | ImmuneIEDB

Conditions an epitope on LBR was assayed in.

• rheumatoid arthritis B cell

Disease | AutoantibodyPubMed

Conditions in which antibodies against LBR are reported. Each links to that disease's full target list.

• Liver Cirrhosis, Biliary 5

ReferencesPubMed · IEDB

Publications for LBR from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.42

gnomAD pLI

0.18

gnomAD missense Z

0.29

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cholesterol biosynthetic process
• neutrophil differentiation
• random inactivation of X chromosome

Molecular functions

• chromatin-protein adaptor activity
• chromo shadow domain binding
• Delta14-sterol reductase activity
• DNA binding
• lamin binding
• NADPH binding
• RNA binding

Cellular components

• cytoplasm
• endoplasmic reticulum membrane
• fibrillar center
• membrane
• nuclear envelope
• nuclear inner membrane
• nuclear lamina
• nuclear membrane
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Sterol biosynthesis ERG24/DHCR-like
• Tudor domain
• Sterol reductase, conserved site
• Ergosterol biosynthesis ERG4/ERG24 family
• Lamin-B receptor of TUDOR domain
• Lamin-B receptor of TUDOR domain

KeywordsUniProt

• Acetylation
• Cholesterol biosynthesis
• Cholesterol metabolism
• Cytoplasm
• DNA-binding
• Dwarfism
• Endoplasmic reticulum
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Nucleus
• Oxidoreductase
• Phosphoprotein
• Receptor
• Steroid biosynthesis
• Steroid metabolism
• Sterol biosynthesis
• Sterol metabolism
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of LBR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CBX5
• CLNK
• DNA
• TMEM147
• CBX1
• C1QBP
• CANX
• CBX3
• LMNB1
• YWHAG
• YWHAH