Emd emerin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Emdprovided by RGD
Official Full Name: emerinprovided by RGD
Primary source: RGD:2551
See related: EnsemblRapid:ENSRNOG00000058882 AllianceGenome:RGD:2551
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable actin binding activity and beta-tubulin binding activity. Involved in nuclear membrane reassembly. Located in nuclear envelope. Human ortholog(s) of this gene implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy. Orthologous to human EMD (emerin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Thymus (RPKM 81.4), Lung (RPKM 76.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq37

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (157190438..157193479)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (152038990..152042190)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (156452847..156455858, complement)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Suppressed nuclear envelope proteins activate autophagy of vascular smooth muscle cells during cyclic stretch application.
Title: Suppressed nuclear envelope proteins activate autophagy of vascular smooth muscle cells during cyclic stretch application.
Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient in Emery-Dreifuss muscular dystrophy.
Title: Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient.
Our findings establish the pathogenetic role of emerin and lamin A/C repression in stretch-induced VSMC proliferation and suggest mechanobiological mechanism underlying this process that involves the sequence-specific binding of emerin and lamin A/C to specific transcription factor motifs.
Title: Nuclear envelope proteins modulate proliferation of vascular smooth muscle cells during cyclic stretch application.
We now show that epitope masking in the nucleus is often responsible for failure to detect emerin and lamins in human, rat and pig tissues.
Title: The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables beta-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-tubulin binding	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in amyloid fibril formation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane organization	IEA Inferred from Electronic Annotation more info
involved_in nuclear membrane organization	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane reassembly	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of protein export from nucleus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal muscle cell differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in TMEM240-body	IEA Inferred from Electronic Annotation more info
located_in TMEM240-body	ISO Inferred from Sequence Orthology more info
located_in cortical endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in cortical endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear inner membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear inner membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear outer membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear outer membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle pole centrosome	IEA Inferred from Electronic Annotation more info
located_in spindle pole centrosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: emerin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012948.2 → NP_037080.2 emerin

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000021

UniProtKB/Swiss-Prot

Q63190

UniProtKB/TrEMBL

A0A0G2KAZ3, Q6PCU4

Related

ENSRNOP00000075584.2, ENSRNOT00000080990.3

Conserved Domains (1) summary

cd12939
Location:4 → 44

LEM_emerin; LEM (Lap2/Emerin/Man1) domain found in emerin