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Tmem43 transmembrane protein 43 [ Mus musculus (house mouse) ]

Gene ID: 74122, updated on 12-May-2024

Summary

Official Symbol
Tmem43provided by MGI
Official Full Name
transmembrane protein 43provided by MGI
Primary source
MGI:MGI:1921372
See related
Ensembl:ENSMUSG00000030095 AllianceGenome:MGI:1921372
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
LUMA; 1200015A22Rik
Summary
Enables protein self-association. Acts upstream of or within nuclear membrane organization. Located in endoplasmic reticulum lumen and nuclear inner membrane. Is integral component of nuclear inner membrane. Is expressed in several structures, including aorta; cartilage; future spinal cord; genitourinary system; and oral epithelium. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 5; and autosomal dominant Emery-Dreifuss muscular dystrophy 7. Orthologous to human TMEM43 (transmembrane protein 43). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in subcutaneous fat pad adult (RPKM 68.5), mammary gland adult (RPKM 49.0) and 26 other tissues See more
Orthologs
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Genomic context

See Tmem43 in Genome Data Viewer
Location:
6 D1; 6 40.54 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (91450689..91465445)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (91473707..91488463)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1810044D09 gene Neighboring gene STARR-positive B cell enhancer ABC_E8117 Neighboring gene STARR-seq mESC enhancer starr_16640 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 Neighboring gene STARR-seq mESC enhancer starr_16641 Neighboring gene predicted gene, 52912 Neighboring gene xeroderma pigmentosum, complementation group C Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:91456115-91456352 Neighboring gene STARR-positive B cell enhancer ABC_E9671 Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in nuclear membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within nuclear membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within nuclear membrane organization ISO
Inferred from Sequence Orthology
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 43
NP_083042.1

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)

  1. NM_028766.3NP_083042.1  transmembrane protein 43

    See identical proteins and their annotated locations for NP_083042.1

    Status: VALIDATED

    Source sequence(s)
    AK004778, AK168559, BB035729, BY152013
    Consensus CDS
    CCDS20368.1
    UniProtKB/Swiss-Prot
    Q9DBS1
    Related
    ENSMUSP00000032183.5, ENSMUST00000032183.6
    Conserved Domains (1) summary
    pfam07787
    Location:122373
    DUF1625; Protein of unknown function (DUF1625)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    91450689..91465445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)