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lamin B1

Summary

Gene Symbol

LMNB1

Organism

Homo sapiens (human)

External Links

NCBI Gene

4001

PubChem

4001

Alliance of Genome Resources

HGNC:6637

Annotation

Keyword

3D-structure
Acetylation
Chromosomal rearrangement
Coiled coil
Direct protein sequencing
Disease variant
Disulfide bond
Glycoprotein
Intellectual disability
Intermediate filament
Isopeptide bond
Leukodystrophy
Methylation
Nucleus
Phosphoprotein
Prenylation
Primary microcephaly
Reference proteome
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
B4DZT3
P20700

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
heterochromatin formation	IBA
nuclear migration	IBA
protein localization to nuclear envelope	IBA
nuclear pore localization	IBA
cytoskeleton organization	IEA

GO Hierarchy

biological process

cellular process [inference]

cellular localization [inference]

intracellular transport [inference]

nuclear migration

localization within membrane [inference]

nuclear pore localization

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to nucleus [inference]

protein localization to nuclear envelope

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

nucleus organization [inference]

nuclear pore localization

cytoskeleton organization

protein-containing complex organization [inference]

protein-DNA complex organization [inference]

chromatin organization [inference]

chromatin remodeling [inference]

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

heterochromatin organization [inference]

heterochromatin formation

membrane organization [inference]

nuclear envelope organization

localization [inference]

protein-containing complex localization [inference]

nuclear pore localization

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to nucleus [inference]

protein localization to nuclear envelope

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

nuclear migration

establishment of localization in cell [inference]

intracellular transport [inference]

nuclear migration

establishment of organelle localization [inference]

nuclear migration

organelle localization [inference]

nucleus localization [inference]

nuclear migration

establishment of organelle localization [inference]

nuclear migration

cellular localization [inference]

intracellular transport [inference]

nuclear migration

localization within membrane [inference]

nuclear pore localization

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to organelle [inference]

protein localization to nucleus [inference]

protein localization to nuclear envelope

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

epigenetic regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of gene expression [inference]

negative regulation of gene expression, epigenetic [inference]

heterochromatin formation

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
nuclear inner membrane	IEA
nuclear membrane	HDA IDA	16791210
membrane	HDA	19946888
nuclear lamina	IBA IMP	32910914
lamin filament	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle membrane [inference]

organelle inner membrane [inference]

nuclear inner membrane

nuclear membrane

nuclear inner membrane

nuclear matrix

envelope [inference]

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

intermediate filament [inference]

lamin filament

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein binding	IPI	21346760 21988832 25158218 26496610 26524528 29568061 29997244 30021884 31467278 32296183 32814053 33961781 35271311 37398436
sequence-specific double-stranded DNA binding	IEA
structural constituent of cytoskeleton	IBA
structural constituent of nuclear lamina	TAS	7557986
phospholipase binding	IEA

GO Hierarchy

molecular function

structural molecule activity [inference]

binding [inference]

protein binding

enzyme binding [inference]

phospholipase binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding [inference]

double-stranded DNA binding [inference]

sequence-specific double-stranded DNA binding

sequence-specific DNA binding [inference]

sequence-specific double-stranded DNA binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Lamin

Functional Category

E: Amino acid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
nuclear envelope organization
protein localization to nuclear envelope
structural constituent of cytoskeleton

Displaying **all 4** entries
InterPro
Intermediate filament protein, conserved site
Intermediate filament, rod domain
Lamin tail domain superfamily
Lamin tail domain

Disease

Disease Ontology

Displaying entries **1 - 10** of 12 in total

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DO ID	Disease Name	Source
DOID:0050557	congenital muscular dystrophy	Alliance of Genome Resources
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly	Alliance of Genome Resources
DOID:0110425	dilated cardiomyopathy 1A	Alliance of Genome Resources
DOID:0110640	congenital muscular dystrophy due to LMNA mutation	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy	Alliance of Genome Resources
DOID:3911	progeria	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 73 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	16906		MGI:96795	MOUSE23211
Drosophila melanogaster	33782		FB:FBgn0002525
Drosophila melanogaster	36615		FB:FBgn0010397
Rattus norvegicus	116685		RGD:620522	RATNO13268
Caenorhabditis elegans	172687		WB:WBGene00003052
Danio rerio	195816		ZFIN:ZDB-GENE-020424-2
Xenopus laevis	379745		Xenbase:XB-GENE-489662
Xenopus tropicalis	394806		Xenbase:XB-GENE-489658
Xenopus laevis	397911		Xenbase:XB-GENE-17340188
Pan troglodytes	462035	9598_0:0017d8		PANTR36047

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Last updated: December 9, 2024