Human Gene LMOD1 (uc021phl.1) Description and Page Index
Description: Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA. RefSeq Summary (NM_012134): The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC080187.1, X54162.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2146411 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000367288.5/ ENSP00000356257.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr1:201,865,584-201,915,716 Size: 50,133 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr1:201,867,406-201,915,468 Size: 48,063 Coding Exon Count: 3
ID:LMOD1_HUMAN DESCRIPTION: RecName: Full=Leiomodin-1; AltName: Full=64 kDa autoantigen 1D; AltName: Full=64 kDa autoantigen 1D3; AltName: Full=64 kDa autoantigen D1; AltName: Full=Leiomodin, muscle form; AltName: Full=Smooth muscle leiomodin; Short=SM-Lmod; AltName: Full=Thyroid-associated ophthalmopathy autoantigen; SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. TISSUE SPECIFICITY: Smooth muscle (heart, skeletal muscle, colon and small intestine), a subset of striated muscle fibers, and at low level in thyroid. SIMILARITY: Belongs to the tropomodulin family. SIMILARITY: Contains 1 WH2 domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LMOD1 CDC HuGE Published Literature: LMOD1 Positive Disease Associations: Parkinson Disease Related Studies:
Parkinson Disease Hon-Chung Fung et al. Lancet neurology 2006, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data., Lancet neurology.
We generated publicly available genotype data for Parkinsons disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P29536
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.