Human Gene LMOD1 (ENST00000367288.5_12) from GENCODE V47lift37

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Description: leiomodin 1 (from RefSeq NM_012134.3)
Gencode Transcript: ENST00000367288.5_12
Gencode Gene: ENSG00000163431.14_14
Transcript (Including UTRs)
Position: hg19 chr1:201,865,584-201,915,676 Size: 50,093 Total Exon Count: 3 Strand: -
Coding Region
Position: hg19 chr1:201,867,500-201,915,468 Size: 47,969 Coding Exon Count: 3

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Pathways	Other Names	GeneReviews	Model Information
Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:201,865,584-201,915,676)			mRNA (may differ from genome)		Protein (600 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	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.

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: LMOD1 Diseases sorted by gene-association score: moved to 155310* (202), graves' disease (15), leukodystrophy, hypomyelinating, 13 (12), leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (12), cardiomyopathy, hypertrophic 6 (12), visceral myopathy (7), steroid-induced glaucoma (7), coronary restenosis (7), ethylmalonic encephalopathy (6), hyperthyroidism (6), thyroid cancer, nonmedullary, 2 (2) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D001564 Benzo(a)pyrene C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester D002251 Carbon Tetrachloride D002945 Cisplatin D003993 Dibutyl Phthalate D004237 Diuron D004958 Estradiol D004997 Ethinyl Estradiol D013629 Tamoxifen D013749 Tetrachlorodibenzodioxin more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 601.79 RPKM in Artery - Tibial Total median expression: 4744.28 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-66.10	208	-0.318	Picture	PostScript	Text
3' UTR	-749.70	1916	-0.391	Picture	PostScript	Text

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.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR004934 - Tropomodulin
IPR003124 - WH2_dom

Pfam Domains:
PF02205 - WH2 motif
PF03250 - Tropomodulin
PF13516 - Leucine Rich repeat

SCOP Domains:
52047 - RNI-like

ModBase Predicted Comparative 3D Structure on P29536


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0003779 actin binding GO:0005523 tropomyosin binding Biological Process: GO:0006936 muscle contraction GO:0030239 myofibril assembly GO:0030838 positive regulation of actin filament polymerization GO:0045010 actin nucleation GO:0051694 pointed-end actin filament capping Cellular Component: GO:0005737 cytoplasm GO:0005829 cytosol GO:0005856 cytoskeleton GO:0005865 striated muscle thin filament GO:0005884 actin filament GO:0016020 membrane GO:0030016 myofibril GO:0030017 sarcomere

Descriptions from all associated GenBank mRNAs


	X54162 - Human mRNA for a 64 Kd autoantigen expressed in thyroid and extra-ocular muscle. JD267311 - Sequence 248335 from Patent EP1572962. BC080187 - Homo sapiens leiomodin 1 (smooth muscle), mRNA (cDNA clone MGC:87977 IMAGE:6177902), complete cds. AK126474 - Homo sapiens cDNA FLJ44510 fis, clone UTERU3001652, highly similar to Leiomodin-1. JD512444 - Sequence 493468 from Patent EP1572962. JD371155 - Sequence 352179 from Patent EP1572962. JD387055 - Sequence 368079 from Patent EP1572962. JD084315 - Sequence 65339 from Patent EP1572962. JD113437 - Sequence 94461 from Patent EP1572962. JD504747 - Sequence 485771 from Patent EP1572962. JD426369 - Sequence 407393 from Patent EP1572962. JD079915 - Sequence 60939 from Patent EP1572962. JD420061 - Sequence 401085 from Patent EP1572962. JD190736 - Sequence 171760 from Patent EP1572962. JD078085 - Sequence 59109 from Patent EP1572962. JD471639 - Sequence 452663 from Patent EP1572962. JD247858 - Sequence 228882 from Patent EP1572962. JD546658 - Sequence 527682 from Patent EP1572962. JD038997 - Sequence 20021 from Patent EP1572962. JD167824 - Sequence 148848 from Patent EP1572962. JD351934 - Sequence 332958 from Patent EP1572962. JD114537 - Sequence 95561 from Patent EP1572962. JD121933 - Sequence 102957 from Patent EP1572962. JD192377 - Sequence 173401 from Patent EP1572962. JD132017 - Sequence 113041 from Patent EP1572962. JD463387 - Sequence 444411 from Patent EP1572962. JD146293 - Sequence 127317 from Patent EP1572962. JD350037 - Sequence 331061 from Patent EP1572962. JD346914 - Sequence 327938 from Patent EP1572962. JD076399 - Sequence 57423 from Patent EP1572962. JD170411 - Sequence 151435 from Patent EP1572962. JD491856 - Sequence 472880 from Patent EP1572962. JD453814 - Sequence 434838 from Patent EP1572962. JD512987 - Sequence 494011 from Patent EP1572962. JD090822 - Sequence 71846 from Patent EP1572962. JD188151 - Sequence 169175 from Patent EP1572962. JD373769 - Sequence 354793 from Patent EP1572962. JD346880 - Sequence 327904 from Patent EP1572962. JD474446 - Sequence 455470 from Patent EP1572962. JD348757 - Sequence 329781 from Patent EP1572962. JD477097 - Sequence 458121 from Patent EP1572962. JD107280 - Sequence 88304 from Patent EP1572962. JD518644 - Sequence 499668 from Patent EP1572962. JD304099 - Sequence 285123 from Patent EP1572962. BC001755 - Homo sapiens leiomodin 1 (smooth muscle), mRNA (cDNA clone IMAGE:3355265), complete cds. JD416781 - Sequence 397805 from Patent EP1572962. JD520901 - Sequence 501925 from Patent EP1572962. JD086324 - Sequence 67348 from Patent EP1572962. JD320731 - Sequence 301755 from Patent EP1572962. JD373168 - Sequence 354192 from Patent EP1572962. JD478741 - Sequence 459765 from Patent EP1572962. JD382185 - Sequence 363209 from Patent EP1572962. JD277367 - Sequence 258391 from Patent EP1572962. JD119142 - Sequence 100166 from Patent EP1572962. JD144447 - Sequence 125471 from Patent EP1572962. JD100820 - Sequence 81844 from Patent EP1572962. JD184829 - Sequence 165853 from Patent EP1572962. JD455295 - Sequence 436319 from Patent EP1572962. JD381605 - Sequence 362629 from Patent EP1572962. JD123475 - Sequence 104499 from Patent EP1572962. JD365585 - Sequence 346609 from Patent EP1572962. JD115796 - Sequence 96820 from Patent EP1572962. JD372404 - Sequence 353428 from Patent EP1572962. JD172632 - Sequence 153656 from Patent EP1572962. AK304852 - Homo sapiens cDNA FLJ53443 complete cds, highly similar to Leiomodin-1. AK304700 - Homo sapiens cDNA FLJ54257 complete cds, highly similar to Leiomodin-1. JD044605 - Sequence 25629 from Patent EP1572962. JD400233 - Sequence 381257 from Patent EP1572962. JD162616 - Sequence 143640 from Patent EP1572962. AK295824 - Homo sapiens cDNA FLJ55689 complete cds, highly similar to Leiomodin-1. JD088001 - Sequence 69025 from Patent EP1572962. JD473719 - Sequence 454743 from Patent EP1572962. JD439216 - Sequence 420240 from Patent EP1572962. KJ906100 - Synthetic construct Homo sapiens clone ccsbBroadEn_15770 LMOD1 gene, encodes complete protein. AK311740 - Homo sapiens cDNA, FLJ18782. CU687334 - Synthetic construct Homo sapiens gateway clone IMAGE:100022958 5' read LMOD1 mRNA. JD518874 - Sequence 499898 from Patent EP1572962. JD317462 - Sequence 298486 from Patent EP1572962. JD098270 - Sequence 79294 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein P29536 (Reactome details) participates in the following event(s): R-HSA-445705 Release Of ADP From Myosin R-HSA-445699 ATP Hydrolysis By Myosin R-HSA-445700 Myosin Binds ATP R-HSA-445704 Calcium Binds Caldesmon R-HSA-445355 Smooth Muscle Contraction R-HSA-397014 Muscle contraction

Other Names for This Gene


	Alternate Gene Symbols: B1APV6, C4AMB1, ENST00000367288.1, ENST00000367288.2, ENST00000367288.3, ENST00000367288.4, LMOD1_HUMAN, NM_012134, P29536, Q68EN2, uc318fum.1, uc318fum.2 UCSC ID: ENST00000367288.5_12 RefSeq Accession: NM_012134.3 Protein: P29536 (aka LMOD1_HUMAN)

GeneReviews for This Gene


	GeneReviews article(s) related to gene LMOD1: mmihs-ov (Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview)

Gene Model Information


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Methods, Credits, and Use Restrictions


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