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Emd emerin [ Mus musculus (house mouse) ]

Gene ID: 13726, updated on 8-May-2016
Official Symbol
Emdprovided by MGI
Official Full Name
emerinprovided by MGI
Primary source
MGI:MGI:108117
See related
Ensembl:ENSMUSG00000001964 Vega:OTTMUSG00000017684
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Sta; AW550900
Summary
This gene is the founding member of the LEM (Lap2beta, Emerin, and Man1) domain gene family. It encodes an integral membrane protein of the inner nuclear membrane. This gene may be involved in transcriptional regulation and genomic organization. In humans, mutations in this gene cause a class of diseases called laminopathies, which includes Emery-Dreifuss muscular dystrophy (EDMD). [provided by RefSeq, Apr 2013]
Orthologs
Location:
X A7.3; X 37.92 cM
Exon count:
7
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) X NC_000086.7 (74254673..74261563)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (71500178..71503086)

Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene transketolase-like 1 Neighboring gene filamin, alpha Neighboring gene deoxyribonuclease 1-like 1 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ribosomal protein L10 Neighboring gene microRNA 7091

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
actin binding ISO
Inferred from Sequence Orthology
more info
 
beta-tubulin binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to growth factor stimulus ISO
Inferred from Sequence Orthology
more info
 
negative regulation of catenin import into nucleus ISO
Inferred from Sequence Orthology
more info
 
negative regulation of fibroblast proliferation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein export from nucleus ISO
Inferred from Sequence Orthology
more info
 
regulation of canonical Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
 
skeletal muscle cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
skeletal muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane ISO
Inferred from Sequence Orthology
more info
 
membrane ISO
Inferred from Sequence Orthology
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
nuclear inner membrane ISO
Inferred from Sequence Orthology
more info
 
nuclear inner membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear lamina TAS
Traceable Author Statement
more info
PubMed 
nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
nuclear outer membrane ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle ISO
Inferred from Sequence Orthology
more info
 

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)

  1. NM_007927.3NP_031953.1  emerin

    See identical proteins and their annotated locations for NP_031953.1

    Status: REVIEWED

    Source sequence(s)
    AK160531, AL807376, BY260524, CN694597
    Consensus CDS
    CCDS30222.1
    UniProtKB/Swiss-Prot
    O08579
    Related
    ENSMUSP00000002029, OTTMUSP00000019267, ENSMUST00000002029, OTTMUST00000042882
    Conserved Domains (1) summary
    cd12939
    Location:446
    LEM_emerin; LEM (Lap2/Emerin/Man1) domain found in emerin

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000086.7 Reference GRCm38.p3 C57BL/6J

    Range
    74254673..74261563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011247521.1XP_011245823.1  

    See identical proteins and their annotated locations for XP_011245823.1

    UniProtKB/TrEMBL
    Q3THM8
    Related
    ENSMUSP00000094133, OTTMUSP00000037703, ENSMUST00000088313, OTTMUST00000043835
    Conserved Domains (1) summary
    cd12939
    Location:446
    LEM_emerin; LEM (Lap2/Emerin/Man1) domain found in emerin

Alternate Mm_Celera

Genomic

  1. AC_000042.1 Alternate Mm_Celera

    Range
    65508829..65512035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)